Search

Pregnancy and childbirth are uncertain experiences that become even more so when parents receive an unexpected medical diagnosis for their child. In the present study, we document sources of uncertainty and the tools used to manage uncertainty in 44 mothers' narratives about the birth and diagnosis of their child with Down syndrome (DS); we also explore variability in the sources of uncertainty and uncertainty management tools as a function of whether mothers received a prenatal or postnatal diagnosis of DS for their child. Across our sample, thematic analysis revealed four sources of uncertainty in mothers' narratives: navigating dissonance between parents and providers during diagnosis, managing disclosure of the diagnosis to others, anticipating child-centered challenges and adjusting developmental expectations, and anticipating family-centered challenges and adjusting familial expectations. Analyses also revealed four ways that uncertainty was managed: finding balance between parents and providers during diagnosis, reducing knowledge gaps by seeking information, pursuing support and building positive interpersonal relationships, and pursuing support and building positive relationships in DS communities. These findings, along with potential nuance based on whether mothers received a prenatal or postnatal diagnosis of DS for their child, have important implications for healthcare providers and medical professionals regarding how to best communicate DS diagnoses to families as a means of understanding and ultimately reducing the uncertainty they experience., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Scruggs et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

The past decade has seen technological advances in prenatal screening technologies rapidly integrated into clinical practice. These technologies have revolutionised healthcare and raised complex socio-ethical issues such as equitable access, medical commercialisation, and new eugenics. However, the important issue of the impact of these technologies on healthcare professionals is receiving less attention. Exploring this issue in the Australian context, we conducted a survey from August to November 2022, targeting health and allied health professionals who work with parents in the perinatal period who have received a fetal diagnosis. We received 75 substantive responses from a diversity of professionals, including sonographers, midwives, genetic counsellors and medical providers. In this article, we consider the unintended impacts of prenatal screening technologies on healthcare workers, drawing from Ziebland et al., 's 2021 unintended consequences framework. Our reflexive thematic analysis produced three key themes: "Unintended Clinical Complexities", "Adapting Work Practices to Keep Up in Systems that Lack", and "Unintended Intensification of Emotional Labour". Prenatal testing technologies have intentionally increased early testing and fetal information, offering veiled promises of increased certainty in pregnancy. However, our analysis highlights that these advancing technologies also generate more ambiguous results, creating unintended clinical and emotional complexities for healthcare providers. Workers must manage increased clinical uncertainty and constant change, creating intensified emotional labour in under-prepared systems. We conclude by identifying the need to recognise the impacts of advancing prenatal screening technologies on healthcare workers and for targeted professional training to prepare healthcare professionals for the complexities introduced by these new technologies., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Objective: The aim of this study was to explore parents' experiences of their relationships and interactions with healthcare professionals (HCPs) during care related to prenatal diagnosis and termination of pregnancy for foetal anomaly (TOPFA)., Methods: A qualitative approach was used. Participants included 33 parents (23 women and 10 men) from Northern Ireland (n = 11) and Ireland (n = 22) who had a TOPFA. Data collection methods included semi-structured interviews and written narrative accounts. Data were analysed using thematic analysis., Results: Findings confirmed that TOPFA was a traumatic, life-altering experience for parents, impacting their health and well-being. The actions, behaviours and words of HCPs impacted how parents perceived and interpreted their healthcare experiences and their access to services and supports. In relation to this, five themes are presented: (1) the importance of compassionate and non-judgemental care, (2) the value of effective information and communication, (3) the desire for compassionate care for baby and facilitation of memory making, (4) the need for continuity of care and (5) parents' experiences of healthcare relationships during times of legislative change., Conclusion: This research reveals the important role HCPs play in helping parents cope with prenatal testing and TOPFA. Parents who had a positive relationship with an HCP, in which information was communicated effectively and compassionate and non-judgmental care was provided, felt more supported and more able to accept and adapt to their loss., Patient and Public Contribution: An advisory group composed of parents who had experienced TOPFA and HCPs with experience in caring for such families were involved in the study from the outset, contributing to the design and development of data collection materials, interpretation of the findings and design of dissemination materials., (© 2024 The Author(s). Health Expectations published by John Wiley & Sons Ltd.)

Advances in fetal cardiac imaging over the last few decades have allowed for increased prenatal detection and detailed counseling of congenital heart disease (CHD). When CHD is detected, fetal cardiologists are faced with the challenge of providing nuanced prenatal counseling. Studies in other specialties have shown that differences in physician attitudes exist around termination of pregnancy and correlate with variations in the counseling provided to parents. We conducted an anonymous cross-sectional survey of fetal cardiologists in New England (n = 36) regarding attitudes toward termination of pregnancy and the counseling provided to parents with a fetal diagnosis of hypoplastic left heart syndrome. Using a screening questionnaire, there was no significant difference in the counseling provided to parents regardless of the physician's personal or professional views on termination of pregnancy, age, gender, location, type of practice, or years of experience. There were, however, differences among physicians on reasons to consider termination and their perceived professional responsibility to the fetus or mother. Further investigation on a larger geographic scale may reveal additional insights on variations in physician beliefs and whether such beliefs affect variability in counseling practices., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Sickle cell disease (SCD) is a single gene blood disorder characterised by frequent episodes of pain, chronic anaemic, acute chest syndrome, severe disease complications and lifelong debilitating multi-system organ damage. Genetic testing and screening programs for SCD and the sickle cell trait (SCT) are valuable for early diagnosis and management of children living with SCD, and in the identification of carriers of SCT. People with SCT are for the most part asymptomatic and mainly identified as through genetic testing or when they have a child with SCD. This qualitative study explored perceptions towards genetic testing for SCD and SCT in Cameroon, Ghana, and Tanzania. The results show a general preference for newborn screening for SCD over prenatal and premarital/preconception testing, primarily due to its simpler decision-making process and lower risk for stigmatization. Premarital testing for SCT was perceived to be of low public health value, as couples are unlikely to alter their marriage plans despite being aware of their risk of having a child with SCD. Adolescents were identified as a more suitable population for SCT testing. In the case of prenatal testing, major concerns were centred on cultural, religious, and personal values on pregnancy termination. The study revealed a gender dimension to SCD/SCT testing. Participants mentionned that women bear a heightened burden of decision making in SCD/SCT testing, face a higher risk of rejection by potential in-laws/partners if the carriers of SCT, as well as the possibility of  divorce if they have a child with SCD. The study highlights the complex cultural, ethical, religious and social dynamics surrounding genetic testing for SCD and emphasises the need for public education on SCD and the necessity of incorporating genetic and psychosocial counselling into SCD/SCT testing programs., (© 2024. The Author(s).)

The objective of this study was to conduct qualitative research by clarifying the thoughts of pregnant women undergoing non-invasive prenatal testing (NIPT) in Japan, to collect evidence to provide information and psychosocial support in genetic counseling (GC). We attempted to conduct qualitative research to provide support for GC and the society in relation to children with special needs, by clarifying the thoughts of pregnant women undergoing NIPT. Between January 2016 and December 2017, we administered an open-ended questionnaire to pregnant Japanese women undergoing NIPT to clarify their ethical views in relation to children with special needs. The target population included 754 pregnant women who described their feelings and thoughts about undergoing NIPT and about children with special needs. Pregnant women undergoing NIPT have a variety of various mixed feelings and concerns. We classified the feelings and thoughts of pregnant women who underwent NIPT into the following four primary categories (multiple classifications): (1) perception about people with special needs (18.0%); (2) relation between NIPT and life selection (22.3%); (3) attitudes towards undergoing NIPT (47.5%); and (4) negative feelings and thoughts about raising children with special needs (48.1%). Most pregnant women undergoing NIPT expressed negative feelings and raising children with special needs. These feelings and thoughts may be one of the reasons why pregnant women undergo NIPT. In GC, it is important to also provide wide information on the social support and the current situation in the actual life of children with special needs., (© 2024 Japanese Teratology Society.)

Objective: There is a general assumption that Muslim women refuse Down syndrome screening, and therefore, many health practitioners do not offer it or briefly discuss it with their participants. This study aims to objectively assess women's awareness, knowledge, and attitudes toward Down Syndrome screening (D.S.S) in a Muslim-majority population., Methods: We conducted a cross-sectional study among attendees of antenatal clinics at a major university hospital in Saudi Arabia, aiming for a sample size of at least 385 Muslim women. A semi-structured questionnaire assessed awareness of different D.S.S. options and the source of that information (2 items), specific knowledge of D.S.S. (14 items), and attitudes (4 items). The knowledge and attitudes scores were calculated using a five-level agreement Likert-type scale., Results: Among 434 participants, with an even distribution among all age groups and a majority of a college degree holder or higher (71%), 178 (41.0%) reported awareness of D.S.S. Factors associated with increased awareness were maternal age above 40 or those under 30, nulliparity, and extended family history of fetal congenital anomalies (P-value = 0.03,0.015, and 0.017, respectively). Recognized tests were ultrasound measurement of nuchal translucency (71.9%) and first-trimester serum screening (58.4%). The sources of knowledge were obstetricians (53.9%), followed by family and friends (27.0%). The overall mean ± SD knowledge score was 53.9 ± 8.7 out of 70, and the mean attitude score was 17.4 ± 2.9 out of 20. Having 1 or 2 children is associated with a higher knowledge score, and most participants who reported awareness of D.S.S. (51.7%) had a favorable attitude toward screening., Conclusion: Awareness of D.S.S. among Muslim women is associated with favorable attitudes towards testing, contradicting the general assumption and highlighting the need for systematic education to increase awareness and subsequent testing uptake., (© 2024. The Author(s).)

Background: There is a growing interest in exploring parents' views on the benefits of early diagnosis and awareness of sex chromosome trisomies. However, only a few studies focus specifically on the experience of parents of children with XYY syndrome. The present study aimed to assess, in parents of individuals with XYY, the perceived severity of their children's condition, their level of satisfaction with the disclosure process and their concerns about their children's present and future condition., Methods: A national online sample of 56 Italian parents of children and young adults diagnosed with XYY syndrome participated in the study. They filled out a specifically developed online survey that assessed their children's areas of concern, their experience with the disclosure process and their worries about their children's condition., Results: Seventy per cent of the parents received a prenatal diagnosis, whereas 30% received a postnatal diagnosis. High individual variability was found in the parent report of their child's condition. The most frequent areas of concern were attention regulation, emotion control and behaviour control. Individuals with a postnatal diagnosis showed more severe profiles. Parents were generally dissatisfied with the disclosure process, with no differences between prenatal and postnatal disclosure. However, more than 50% of the parents who received a prenatal disclosure reported that their child's condition was less severe than they had expected. In contrast, only 11% of the parents with postnatal disclosure reported this situation. Parents' concerns were negatively related to global satisfaction with the disclosure process and the correspondence between current and expected conditions but positively associated with the child's severity level., Conclusions: The results suggest that clear and realistic information during the disclosure process to parents is needed in both prenatal and postnatal communication and may alleviate parents' concerns., (© 2024 The Author(s). Child: Care, Health and Development published by John Wiley & Sons Ltd.)

The use of prenatal testing in Japan is expected to increase. However, there are ethical concerns regarding pregnancy termination upon the detection of fetal chromosomal abnormalities, such as Down syndrome. Furthermore, factors associated with decision-making following a positive result of Down syndrome after prenatal screening remain unclear. Therefore, we aimed to evaluate the association between decision-making among university students following a hypothetical positive result of Down syndrome in prenatal screening and their perception of their future career development defined as vocational identity. This cross-sectional study included 256 individuals (109 men, 143 women, and four who preferred not to answer). Self-anonymous semi-structured questionnaires were distributed to collect information regarding socio-demographic characteristics, vocational identity, and decision-making following a positive prenatal screening result of Down syndrome. Vocational identity was assessed using the Vocational Identity Measure. Women students were more likely to intend to continue the pregnancy (76.9%, p < 0.05); however, students without siblings (68.2%, p < 0.01) and men and women students with higher scores for vocational identities who were raised in an academically oriented family were more likely to intend to terminate the pregnancy (p < 0.05). Therefore, gender and vocational identity were associated with decision-making following a positive result of Down syndrome. Further qualitative and quantitative studies on factors associated with decision-making following a positive result of Down syndrome are necessary to eliminate the burden and social barrier, including gender division of labor and the effect of vocational career for people wishing to parent a child with Down syndrome., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Sunagozaka, Tsutsumi. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

This study aims to investigate the relationship between Corona Virus Disease 2019 (COVID-19) cognition, social support, and mental health among pregnant women proposed for undergoing interventional prenatal diagnosis in Sichuan Province during the COVID-19 pandemic. A total of 2270 pregnant women (2232 valid) who were proposed to undergo interventional prenatal diagnosis at a tertiary hospital prenatal diagnosis center in Sichuan Province from January to December 2022 were selected by Convenience sampling and surveyed using a self-administered general information questionnaire, social support rating scale, mental health questionnaire (including: Self-Rating Anxiety Scale, Self-Rating Depression Scale), and self-administered COVID-19 cognition questionnaire. Structural equation modeling showed that social support negatively predicted anxiety (β = -0.34, t = -14.98, P < .001) and negatively predicted depressive status (β = -0.21, t = -9.57, P < .001); COVID-19 cognition negatively predicted anxiety (β = -0.76, t = -5.34, P < .001) and depression (β = -0.40, t = -2.99, P < .01); anxiety positively predicted anxiety (β = 0.73, t = 37.34, P < .001). The overall knowledge rate of COVID-19 cognition among 2232 pregnant women who were to undergo interventional prenatal diagnosis was 76.40%. The fit indices of the model were: CMIN/DF = 3.071, GFI = 0.999, AGFI = 0.993, CFI = 0.999, RMSEA = 0.030, NFI = 0.998, and TLI = 0.992, indicating that the model had a good fit and the model was scientifically valid. Pregnant women in Sichuan province who are to undergo prenatal interventional diagnosis have a medium level of COVID-19 awareness, and their level of COVID-19 awareness and social support will directly affect their anxiety and depression level, and their anxiety level will also affect their depression level. We should give more attention to pregnant women, especially those in particular situations such as advanced age, poor maternal history, family history of genetic disease, etc, they should be given adequate care and social support, and multiple channels and types of health education should be provided for the COVID-19 to improve the pregnant women's knowledge of COVID-19, which is important for improving the mental health of pregnant women., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Purpose: Prenatal genetic screens and diagnostic tests are vital components of prenatal care. The first prenatal visit is a critical time in the decision-making process when patients decide whether to use these tests in addition to address a series of other essential prenatal care aspects. We conducted this study to examine the role of a shared decision-making (SDM) instrument to support these discussions., Methods: We conducted a cluster randomized controlled trial of patients allocated to an SDM tool or usual care at their first prenatal visit. Participants completed a baseline survey to measure decision-making needs and preferences. Direct observation was conducted and analyzed using the OPTION scale to measure SDM during prenatal genetic testing discussions., Results: Levels of SDM were similar across groups ( P  = 0.081). The highest levels of SDM were observed during screening test discussions (NEST 2.4 ± 0.9 v. control 2.6 ± 1.0). Lowest levels were observed in discussions about patients' preference for risk versus diagnostic information (NEST 1.0 ± 1.1 v. control 1.2 ± 1.3)., Conclusion: Study findings demonstrate the need for targeted patient-focused and provider-focused efforts to improve SDM to enhance patients' informed decision making about these options. Importantly, patients' baseline knowledge and attitudes need to be considered given that patients with less knowledge may need more carefully crafted communication., Highlights: Choices about whether, when, and how to use prenatal genetic tests are highly preference-based decisions, with patients' baseline attitudes about these options as a major driver in health care discussions.The decision-making process is also shaped by patient preferences regarding a shared or informed decision-making process for medical decisions that are highly personal and have significant ramifications for obstetric outcomes.There is a need to develop targeted efforts to improve decision making and enhance patients' ability to make informed decisions about prenatal genetic tests in early pregnancy., Competing Interests: The authors declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: Susannah Rose, consulting ethicist, National Pharmacy and Medical Policy Committee & National Pharmacy and Therapeutics Committee, Blue Cross Blue Shield Association (nonprofit); Bo Hu, National Institutes of Health and Patient-Centered Outcomes Research Institute. All other authors declare no conflicts of interest.

There is a paucity of research on the experiences of parents of children with trisomy X (47,XXX). Increased prenatal diagnoses associated with advances in noninvasive prenatal screening necessitate a better understanding of how trisomy X impacts family systems. This qualitative investigation aimed to describe the lived experience of parents of young daughters with prenatally identified trisomy X to guide genetic counseling. Semi-structured qualitative interviews were conducted via teleconferencing with parents (n = 11) of girls with trisomy X, ages 6-44 months. A descriptive phenomenological approach was used to code transcripts for significant statements and reduce data into themes describing the experience of receiving a diagnosis of trisomy X and the experience of early parenting in this population. Participants described an emotional journey of adapting to prenatally identified trisomy X. Four descriptive themes included two related, yet distinct, life stages: Negative Diagnostic Experience and a Hopeful Early Childhood, as well as two ongoing experiences: Persistent Ambiguity and Coping with and Adapting to Uncertainty. Results suggest providers should carefully consider word choice and timing in delivery of diagnosis, and genetic counseling should provide expectant parents with current research specific to trisomy X, facilitate connections with other parents of young girls with trisomy X, introduce developmental monitoring approaches, and be prepared to support families with a range of emotional responses to the diagnosis and decisions regarding disclosure., (© 2023 National Society of Genetic Counselors.)

Diagnostic genetic testing and non-invasive prenatal testing (NIPT) for conditions associated with disability are becoming increasingly available to consumers. This genetic information can be used in the disability setting to inform factors such as prognosis, management, and reproductive decision-making. Genetic counselors (GCs) play an important role in the provision of genetic testing and NIPT, and their attitudes toward disability can influence how genetic information is communicated and shape patients' responses. This study aimed to evaluate and describe Australasian GCs' experience with and attitudes toward disabilities to identify potential biases and training needs. A cross-sectional survey was distributed to 400 GCs registered with the Human Genetics Society of Australasia. Of the 106 respondents (participation rate: 26%), a significantly greater proportion were more comfortable interacting with individuals with physical disability as compared to intellectual disability (p < 0.001). GCs with personal experiences with disabilities reported significantly greater comfort interacting with people with intellectual disability than those without experience (p = 0.012). Qualitative analysis revealed discomfort was less reflective of bias than inexperience and apprehension about communicating disrespectfully. GCs believed people with disabilities experience discrimination and that having a disability could make a person stronger, wiser, and more motivated. Most GCs viewed prenatal testing for disabilities positively as it allowed for decisions regarding continuing the pregnancy and/or provided opportunity to prepare. Challenges identified for prenatal counseling included negative societal attitudes and the low visibility of disability. GCs felt that 'personal beliefs' was the primary factor influencing the decision to terminate a pregnancy affected by disability. These findings highlight important education and training needs for GCs to improve preparedness and comfort when communicating with people with a disability., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Aim: To determine the attitudes of pregnant couples toward carrier screening genomic tests., Methods: A validated 22-item questionnaire was offered in person by medical staff to pregnant women ≥32 weeks' gestation and their partners attending prenatal classes from May to July 2014. The questionnaire inquired about demographic data, interest in various forms of genetic carrier screening tests, and genetic literacy., Results: Of 497 respondents, 69% expressed strong interest in carrier screening. The interested respondents exhibited substantial support for screening for common (82%) or all known genetic diseases (79%), as well as for treatable (79%) and untreatable diseases (85%). The majority of respondents believed that genetic test results could provide them with a sense of security but also provoke anxiety and fear. They were aware that these results could affect their perspective on life, work, and the atmosphere within their family, and acknowledged the potential effect on their relationship with their partner. However, none of these concerns diminished their desire to learn about their carrier status. Respondents with higher genetic literacy exhibited greater interest in screening tests (P=0.006). More non-religious respondents compared with practicing religious respondents (P=0.002), and more respondents with higher education compared with those with lower education, expressed interest in screening (P=0.003)., Conclusion: Most respondents expressed considerable interest in receiving information about their carrier status through genetic tests.

Although there are numerous benefits to diagnostic prenatal testing, such as fetal exome sequencing, there are also consequences, including the possibility of receiving variants of uncertain significance or identifying secondary findings. In this study, we utilized a survey-based discrete choice experiment to elicit the preferences of pregnant people in Northern California for hypothetical prenatal genomic tests. Pregnant individuals were invited to complete the survey through advertisements on social media. Five test attributes were studied: likelihood of getting a result, time taken to receive results, who explains results, reporting of uncertain results, and reporting of secondary findings. The survey also gathered information about the participants' demographics, current and past pregnancies, and tolerance of uncertainty using the IUS-12 scale. Participants were eligible if they were female, currently 24 or more weeks pregnant, and able to read/write enough English or Spanish to complete an online survey. Overall, participants (n = 56) preferred the option of having a prenatal test over not having a prenatal test (p < 0.01) and had substantially higher preferences for tests with the highest likelihood of getting a result (p < 0.01). There were also positive preferences for tests that reported secondary findings (p = 0.01) and those where results were returned by a genetic specialist (vs. their prenatal provider) (p = 0.04). These findings can be used to guide conversations between pregnant individuals and genetics specialists, such as genetic counselors, as they weigh the pros and cons of diagnostic prenatal testing options., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Background: Caring for parents continuing pregnancy after learning about a severe life-limiting condition in their unborn is challenging. Most existing studies focus on affected families, whereas research on the subjective experience of care professionals is scarce., Aim: We aimed to (1) explore experiences and needs of involved care professionals, (2) obtain information about existing care structures, and (3) identify requirements for a structured perinatal palliative care program., Design: Grounded Theory study using theoretical sampling. Data was collected by semi-structured interviews and analyzed following the principles of grounded theory coding and situational analysis., Setting: A total of 18 professionals from 12 different services in Munich and surroundings participated in the study: 8 physicians, 3 midwives, 2 nurses, 1 each pregnancy counselor, grief counselor, chaplain, clinical psychologist, and undertaker., Results: Several organizations provide support for affected parents, but inter-institutional communication is scarce. Due to the lack of a dedicated perinatal palliative care program, professionals make immense and partly unpaid efforts to support concerned parents. Providers experience "collateral beauty" in their work despite all the suffering and grief. This includes the development of a humble attitude and feelings of gratitude toward life, the feeling of having a meaningful task and professional as well as personal growth. Requirements for a structured perinatal palliative care program include: fostering peer support, ensuring regular supervision, and enhancing interdisciplinary exchange., Conclusions: Perinatal palliative care demands a high level of personal engagement but is experienced as highly rewarding by care professionals., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: To examine parental experiences during pregnancies affected by Arthrogryposis Multiplex Congenita (AMC) by identifying commonalities, risk factors, and areas for improvement in detection rates, care protocols, and patient experience., Study Design: An online survey was distributed via AMC support groups on Facebook. Topics included demographics, risk factors, parental recall of sonographic findings, delivery characteristics and neonatal findings. Responses were divided into antenatally detected cases (ADCs) and postnatally detected cases (PDCs). Quantitative responses were analyzed with the Fisher exact test. Qualitative data were analyzed with thematic analysis., Results: The antenatal detection rate of arthrogryposis was 37%. Decreased fetal movement was reported by 53% and early bleeding by 21%. Sonographic findings in ADCs included clubfoot (83%), clenched hand (51%), decreased fetal movement (50%), elbow contracture (51%), and knee contracture (46%). Among ADCs, 29% delivered vaginally and 71% delivered by cesarean versus PDCs (44% vaginal, 56% cesarean). Neonatal intensive care unit admission rate was 63%. Bone fracture occurred in 9%. Detection led to a planned change in delivery mode in 33% and location in 50%. Among ADCs, 17% felt their concerns were not adequately addressed versus 43% of PDCs., Conclusions: Antenatal detection of arthrogryposis was low. We propose enhanced screening criteria to aid prenatal diagnosis and promote utilization of more robust practice guidelines., (© 2024 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Objective: To explore how the COVID-19 pandemic affected fetal care, social support, and emotional functioning for women carrying a fetus with CHD., Method: This was a single-centre qualitative study of 31 women who received a prenatal diagnosis of CHD during the pandemic. Patients completed semi-structured interviews about their experiences with fetal care, social support, and perceptions of risk to themselves and their fetus. Consistent themes regarding the impact of the pandemic were identified using an inductive thematic approach. Demographic data were collected via self-report and chart review., Results: Women generally reported consistent access to fetal care throughout the pandemic, with frequent use of telemedicine in addition to in-person care, but negative impacts resulting from restrictions on family support at appointments. Limited access to social support overall and a loss of pregnancy traditions were described. Many women reported feeling isolated and experiencing worries and fears about COVID-19 but also noted feeling supported by their healthcare team. Partner/family support during appointments and connection to peer-to-peer support were identified as recommendations to mitigate negative impacts., Conclusion: Women carrying a fetus with CHD during the COVID-19 pandemic experienced unique stressors that may affect mental health. However, many also experienced unexpected supports that may mitigate effects of pandemic-related stressors. Results can inform efforts to promote positive family outcomes during and following the COVID-19 pandemic.

Objectives: Decisional conflict and regret about prenatal genetic screening and diagnostic tests may have important consequences in the current pregnancy and for future reproductive decisions. Identifying mechanisms that reduce conflict associated with the decision to use or decline these options is necessary for optimal patient counseling., Methods: We conducted a cluster-randomized controlled trial of a shared decision-making tool (NEST) at the beginning of prenatal care. Enrolled patients completed follow-up surveys at the time of testing (QTT) and in the second-third trimester (QFF), including the Decision Conflict Scale (DCS). Total DCS scores were analyzed using a multivariate linear mixed-effect model., Results: Of the total number of participants (n=502) enrolled, 449 completed the QTT and QFF surveys. The mean age of participants was 31.6±3.8, with most parous at the time of study participation (n=321; 71.7 %). Both the NEST (the intervention) and control groups had lower median total DCS scores at QFF (NEST 13.3 [1.7, 25.0] vs. control 16.7 [1.7, 25.0]; p=0.24) compared to QTT (NEST 20.8 [5.0, 25.0] vs. control 18.3 [3.3, 26.7]; p=0.89). Participants exposed to NEST had lower decisional conflict at QFF compared to control (β -3.889; [CI -7.341, -0.437]; p=0.027)., Conclusions: Using a shared decision-making tool at the start of prenatal care decreased decisional conflict regarding prenatal genetic testing. Such interventions have the potential to provide an important form of decision-making support for patients facing the unique type of complex and preference-based choices about the use of prenatal genetic tests., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)

Objectives: To analyze the reasons for refusal of aneuploidy screening in a multicultural Middle Eastern population., Methods: The study included patients delivering in a university hospital, who had refused aneuploidy screening during their pregnancy. We evaluated through a questionnaire submitted during the postpartum period the sociodemographic characteristics, beliefs, attitudes, and the main reason underpinning their choice. Religious, ethical, and financial factors, personal beliefs, medical information, perceived media information, and familial input were assessed through a Likert scale., Results: Our pilot study included 70 patients. The main reason (33 %) was the refusal to terminate pregnancy if the screening tests ultimately led to a diagnosis of aneuploidy. Lack of adequate information on the availability and benefits of this screening method (28 %), religious beliefs (17 %), in addition to other minor reasons such as financial considerations, familial recommendations, late pregnancy follow-ups, and media influence were also identified as contributing factors., Conclusions: Aneuploidy screening is routinely offered to couples, with varying uptake rates observed worldwide. Sufficient information on prenatal screening and diagnosis should be provided to all pregnant women, presenting all available options, thus enabling them to make a free and informed choice during their pregnancy., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)

Non-invasive prenatal testing (NIPT) can not only accurately detect early in pregnancy the presence of chromosomal abnormalities but also fetal sex. However, whether fetal sex should be reported after performing NIPT is ethically contentious. In Belgium, NIPT is practically fully reimbursed and offered to all pregnant women as a first-tier screening. In practice, fetal sex is reported upon request of the expectant parents; however, this is not stipulated in guidelines. As more countries are offering NIPT and looking to implement it in public healthcare, challenges and insights of healthcare professionals working in Belgium can be of value for others. We assessed healthcare professionals' experiences with and perspectives on sex determination and reporting following NIPT in Belgium by conducting a semi-structured interview study. We interviewed 30 professionals involved in prenatal screening. While overall healthcare professionals did not consider reporting fetal sex to be an issue if the expectant parents want to know, some consider the reporting of a non-medical trait like fetal sex problematic when it is reimbursed or if it could lead to sex-selective termination of pregnancy. Moreover, the strong desire of expectant parents to know fetal sex risks compromising informed decision-making about NIPT. In this way, fetal sex may distract from the primary aim of NIPT as a test for medical conditions. Improving pre-test counseling both in terms of quality and availability may help overcome some of these issues., (© 2024. The Author(s), under exclusive licence to European Society of Human Genetics.)

There is a lack of standardized measurement tools globally to assess knowledge, attitudes, and perceptions of expecting women toward prenatal screening. The purpose of this systematic review was to identify reasons women pursue or decline prenatal screening and compare the strengths and limitations of available measurement tools used to assess pregnant women's perceptions, knowledge, and attitudes toward prenatal screening. This review followed the five-step York methodology by Arksey and O'Malley and incorporated recommendations from the Preferred Reporting Items for Systematic Reviews and Meta-Analysis checklist for the extraction, analysis, and presentation of results. The five steps consisted of: (1) identification of the research questions; (2) searching for relevant studies; (3) selection of studies relevant to the research questions; (4) data charting; and (5) collation, summarization, and reporting of results. Four online databases (PubMed, Embase, Web of Science, and Cochrane Library) were selected after the librarian's development of a detailed search strategy. The Rayyan platform was used between June 2023 and August 2023 to epitomize the articles produced from our search. A total of 68 eligible studies were included in the analysis. The top five major reasons for declining prenatal screening uptake included (1) being unsure of the risk of prenatal screening and harm to the baby or miscarriage ( n  = 15), (2) not considering action such as termination of pregnancy for prenatal screening to be considered as necessary ( n  = 14), (3) high cost ( n  = 12), (4) lack of knowledge about testing procedures and being anxious about the test ( n  = 10), and (5) being worried about probability of false negative or false positive results ( n  = 6). Only 32 studies utilized scientifically validated instruments. Difficulties in capturing representative, adequately sized samples inclusive of diverse ethnicities and demographics were pervasive. Findings highlight the need for rigorous validation of research measurement methodologies to ensure the accuracy and applicability of resulting data regarding the assessment of prenatal screening perceptions, knowledge, and attitudes across diverse female populations. Registration: N/A.

Background: Prenatal screening technology has consistently raised concerns regarding the conversations and information provided about disabilities, particularly given that research shows trauma related to negative prenatal screening and diagnosis experiences among parents of children with Down syndrome. 1 OBJECTIVE: To determine what information obstetric medical providers (OB/MFMs) are most and least likely to provide when delivering prenatal screening/testing results about Down syndrome (DS), the subsequent impact of bias on prenatal screening experiences, and how these issues can be addressed through training, resources, and professional guidelines., Methods: Online surveys were distributed to parents of children with DS born between 2016 and 2021 via local DS organizations and the national DS Diagnosis Network (April 2020-December 2021)., Results: Of the 242 parents who completed the survey, a majority indicated that OB/MFMs were most likely to discuss medical issues and reproductive options while less than 40% reported that OB/MFMs discussed psychosocial outcomes, supports, and services. Respondents reported that the 61.3% of OB/MFMs who delivered the diagnosis as bad news or said "I'm sorry" were significantly less likely than their counterparts to provide information about life outcomes, supports and services, condition-specific resources, or more comprehensive prenatal care. Qualitative responses about screening/diagnosis experiences provided further context about the impact of implicit and explicit bias on the provision of accurate, up-to-date information., Conclusion: To meet information needs during prenatal screening, OB/MFMs need access to accurate, balanced, and up-to-date information about disabilities and more training on disability cultural competency and how to deliver prenatal screening/testing results without implicit or explicit bias., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Background: This research addresses inadequate understanding of interventional prenatal diagnosis, preoperative anxiety psychological problems in pregnant women undergoing interventional prenatal diagnosis, proposing a health education mode combined AIDET standard communication and King's theory of goal attainment approach to potentially improve health education outcomes, anxiety psychological problems, and patient satisfaction., Methods: A convenient sampling method was used to select a total of 300 pregnant women who were ready to undergo interventional prenatal diagnosis. They were randomly divided into a implementation group and a control group, with 150 pregnant women in each group. The control group used the communication mode of the traditional process of nurse-patient communication. The implementation group used the AIDET standard communication health education model under the King theory of goal attainment in the process of nurse-patient communication and the interventional prenatal diagnosis health education content questionnaire, the pregnant women's satisfaction questionnaire, state anxiety scale, and disease uncertainty scale were used for evaluation., Results: The results of the interventional prenatal diagnosis health education questionnaire, the results of pregnant women's anxiety, the results of pregnant women's disease uncertainty, the results of pregnant women's satisfaction, the implementation group all were better than the control group (P < .05)., Conclusion: Using the AIDET standard communication health education model under the King theory of goal attainment in nurse-patient communication is conducive to the rapid establishment of a harmonious and trusting nurse-patient relationship between pregnant women and nurses, helping pregnant women and nurses jointly promote the establishment and implementation of health education goals, helping to improve pregnant women's acceptance of information related to interventional prenatal diagnosis, health education and the procedure of walking on the day of surgery. It helps enhance the effectiveness of health education and satisfaction, reducing pregnant women's uncertainty about the disease, their unfamiliarity with the surgery environment and surgery procedure, and their preoperative anxiety., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background: Prenatal genetic testing, in particular non-invasive prenatal testing (NIPT), as well as screening for risks associated with pregnancy, and counseling, play pivotal roles in reproductive healthcare, offering valuable information about the health of the fetus to expectant parents. This study aims to delve into the perspectives and experiences of women considering genetic testing and screening during pregnancy, focusing on their decision-making processes and the implications for informed consent., Methods: A nationwide qualitative study was conducted in Switzerland, involving in-depth interviews with women who were 1 to 2 years post-partum, covered by basic compulsory Swiss insurance, including women with a migration background. Thematic analysis was employed to identify key themes and patterns in the data., Results: The findings underscore the significance of effective communication during prenatal counseling, suggesting that healthcare providers could not only convey technical information but also support women in their decision-making processes. Women need comprehensive information about genetic testing and its implications, as well as the reasons for screening during pregnancy, as there might be a need to bridge knowledge gaps and clarify misconceptions. Furthermore, the study highlights the multifaceted nature of decision-making, with women considering factors such as uncertainty, values, emotional responses, and societal support systems. The concept of acceptance emerged as a crucial theme, with some women expressing their readiness to love and accept their child, regardless of genetic anomalies or disabilities., Conclusion: This study offers valuable insights into the perspectives and needs of women regarding prenatal genetic testing, screening, and counseling in Switzerland. It underscores the importance of enhancing the clinical interaction and informed consent process by providing comprehensive information, addressing misconceptions, and supporting women in decision-making about pregnancy management and the management of the child's health, following prenatal genetic testing, including NIPT. These findings can inform healthcare providers and policymakers in improving the quality of prenatal counseling, ensuring informed consent, and supporting women in making well-informed and meaningful decisions about genetic testing, and on the use of screening during pregnancy., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Non-invasive prenatal testing (NIPT) has grown in ubiquity in the last decade and is now endorsed by Society for Maternal Fetal Medicine and American College of Obstetricians and Gynecologists as a screening tool for aneuploidy in all patients. Past studies have demonstrated a tendency among obstetrics patients to focus on the ability of NIPT to predict fetal sex chromosomes; however, data on the experiences of genetic counselors (GCs) counseling on NIPT and fetal sex prediction are limited. This mixed-methods study aimed to explore how GCs counsel about NIPT and fetal sex prediction, as well as the use of gender-inclusive language in this setting. A 36-item survey with multiple choice, Likert scale, and open-ended questions was distributed to GCs who currently offer NIPT to patients. Quantitative data were analyzed using R and qualitative data were manually analyzed and coded via inductive content analysis. A total of 147 individuals completed at least some portion of the survey. A majority of participants (68.5%) reported frequent interchangeable use of the terms 'sex' and 'gender' by patients. A majority (72.9%) of participants reported that they rarely or never discuss the difference between these terms in sessions (Spearman's rho = 0.17, p = 0.052). Seventy-five respondents (59.5%) indicated that they had taken continuing education courses on inclusive clinical practices for trans and gender-diverse (TGD) patients. Several themes arose from free responses; the most frequently identified themes were the need for thorough pretest counseling that properly describes the scope of NIPT and the challenge of discrepant pretest counseling by other healthcare providers. Results from our research identified challenges and misconceptions GCs face when offering NIPT and various tactics implemented to mitigate these. Our study highlighted the need for the standardization of pretest counseling regarding NIPT, additional guidance from professional organizations, and continuing education focused on gender-inclusive language and clinical practices., (© 2023 National Society of Genetic Counselors.)

Non-invasive prenatal screening (NIPS) using cell-free DNA is a screening test for fetal aneuploidy offered by a variety of prenatal healthcare providers. Guidelines for genetic screening consistently recommend that providers facilitate informed choices, which have been associated with better psychological and clinical outcomes than uninformed choices. The multidimensional measure of informed choice (MMIC) is a widely used and theory-based measure that combines knowledge, values, and behavior to classify decisions as either informed or uniformed. We implemented a previously validated version of the MMIC for women offered NIPS to describe the choices made by women receiving prenatal care at the Vanderbilt University Medical Center. The survey included the Ottawa Decisional Conflict scale, an outcome measure used for validation of choice categorization. We found that most women (87%) made an informed choice about NIPS. Of the women categorized as uninformed, 67% had insufficient knowledge, and 33% had an attitude discordant with their decision. The vast majority of respondents (92.5%) underwent NIPS and had a positive attitude toward screening (94.3%). Ethnicity (p = 0.04) and education (p = 0.01) were found to be significantly associated with informed choice. Decisional conflict was extremely low among all participants, with only 5.6% of all participants demonstrating any form of decisional conflict, and all being categorized as having made an informed choice. This study suggests that pre-test counseling by a genetic counselor results in high rates of informed choice and low-decisional conflict amongst women offered NIPS by genetic counselors, though more research is required to determine if rates of informed choice remain high when NIPS is offered by other prenatal providers., (© 2023 National Society of Genetic Counselors.)

As both the scope and popularity of non-invasive prenatal testing (NIPT) have expanded, debate has emerged about the extent to which this test enhances or undermines reproductive autonomy. Genetic counseling is crucial to support autonomy in the context of making complex and value-laden decisions about reproductive care following high-chance results from NIPT. Two models of post-test prenatal genetic counseling have been proposed; the first of these, non-directive counseling, is the predominant model, while shared decision making is an alternative model deriving from patient care for chronic conditions. In this paper, we argue that neither of these approaches is adequate for counseling after NIPT to support reproductive autonomy. Instead, then, we propose an alternative approach that we call reproductive deliberation. This approach to prenatal genetic counseling simultaneously recognizes the relationality of the counseling encounter and supports the decision making capacity and decisional responsibility of the pregnant person., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

The Internet plays a crucial role for people searching for health information. In the context of parents faced with a prenatal diagnosis of a chromosomal abnormality, Internet-based resources convey critical information and attitudes that bear on the process of healthcare decision-making. In this study, we collected and analyzed 268 websites for Klinefelter syndrome and Down syndrome, which are two of the most common genetic conditions marked by an abnormal number of chromosomes. While these two syndromes are quite different in terms of their associated symptoms and health consequences, they are commonly screened for, have similar incidence rates, and parents who are presented with prenatal diagnosis of the two conditions terminate pregnancies at similar rates. The study found substantial differences in framings of information, and social support available online for Klinefelter syndrome and Down syndrome. This study's key finding supports the argument that social support and framing are important mechanisms that mediate online information and perceptions of information utility, hope and decision tendency. The study extends theories and literature related to information framing in a mass media context, social support, and cognitive information processing and applies to investigating online health information, social support and perceptions.

Background: Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) has expanded from detecting chromosome aneuploidy to testing for a variety of genetic conditions, including some select single gene disorders. As next generation sequencing/whole exome sequencing technology develops, it may be possible to expand NIPT of cfDNA to identify hundreds of single gene and chromosomal disorders in a fetus, thereby increasing the complexity of pretest counselling and parental decision-making., Aim: The aim of this study was to assess the views of women on the phenotypes of genetic conditions potentially detectable with expanded NIPT that they would consider severe enough to warrant pregnancy termination., Materials and Methods: Using multiple clinical scenarios, we asked women via an online survey about the early detection of several well-described genetic phenotypes in pregnancy that in theory could be detected by expanded NIPT., Results: Two hundred and nineteen women participated in this study. There was high support for early diagnosis and the option for termination of pregnancy in conditions perceived as severe (52-71%). Women expressed a preference for testing to be provided by general practitioners and assigned a high value to genetic counselling support (75-90%). In the case of a continuing pregnancy, women recognised the essential role of ongoing psychosocial counselling for family members and childhood early intervention programs., Conclusion: Women expressed clear preferences for termination of pregnancy for severe conditions and as early in gestation as feasible. Information and support from genetic counsellors are a highly valued resource in decision-making following a prenatal diagnosis of a fetal genetic abnormality., (© 2022 Royal Australian and New Zealand College of Obstetricians and Gynaecologists.)

Background: The Netherlands and Belgium have been among the first countries to offer non-invasive prenatal testing (NIPT) as a first-tier screening test. Despite similarities, differences exist in counseling modalities and test uptake. This study explored decision-making and perspectives of pregnant women who opted for NIPT in both countries., Methods: A questionnaire study was performed among pregnant women in the Netherlands (NL) (n = 587) and Belgium (BE) (n = 444) opting for NIPT, including measures on informed choice, personal and societal perspectives on trisomy 21, 18 and 13 and pregnancy termination., Results: Differences between Dutch and Belgian women were shown in the level of informed choice (NL: 83% vs. BE: 59%, p < 0.001), intention to terminate the pregnancy in case of confirmed trisomy 21 (NL: 51% vs. BE: 62%, p = 0.003) and trisomy 13/18 (NL: 80% vs. BE: 73%, p = 0.020). More Belgian women considered trisomy 21 a severe condition (NL: 64% vs. BE: 81%, p < 0.001). Belgian women more frequently indicated that they believed parents are judged for having a child with trisomy 21 (BE: 42% vs. NL: 16%, p < 0.001) and were less positive about quality of care and support for children with trisomy 21 (BE: 23% vs. NL: 62%, p < 0.001)., Conclusion: Differences in women's decision-making regarding NIPT and the conditions screened for may be influenced by counseling aspects and country-specific societal and cultural contexts., (© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Background: Pregnant women with suspected fetal anomalies experience a great deal of stress following prenatal screening tests. The present study aimed to investigate women's worries about prenatal screening tests suspected of fetal anomalies., Methods: Through the use of qualitative content analysis, the reports of women whose prenatal screening tests were suspected of fetal anomalies were analyzed and the results were interpreted. The participants were selected from four public and private maternity care clinics of Babol, Iran, from December 2021 to January 2022, using targeted convenience sampling. Data were collected from 20 women aged 24 to 41 years old, who underwent prenatal screening tests and were suspected of fetal anomalies, using semi-structured face-to-face interviews., Results: The four main themes included the "causes of worries" (with sub-themes of challenge with spouse and relatives, medical diagnosis processes, previous unpleasant experiences, physical and mental problems, financial worries, and misinformation), "anxiety-coping styles" (with cognitive emotion-oriented, behavioral emotion-oriented, and problem-oriented sub-themes), "reactions to a possible diagnosis of anomaly" (with three sub-themes, namely concealment, extreme fear and worry, and denial), and "attribution of the cause of the anomaly" (with sub-themes of consanguine marriage, evil eyes, tendency to have a baby of a particular gender, a history of anomalies in the previous child, the spouse's medical illness, unplanned pregnancy, and high maternal anxiety)., Conclusion: Women with suspected fetal anomalies experience a great deal of stress, the most important reason for which is the "physician's uncertainty". "Sharing worries with relatives" was the most common style of coping with worries. Establishing emotional support and empathetic communication between midwives and physicians with pregnant women suspected of fetal anomalies were important ways to reduce their worries., (© 2023. The Author(s).)

Background: Advanced technologies in antenatal screening provide complex and accurate information about the fetus that allows for early intervention, but it increases pregnant women's concerns about fetal health. This study aimed to investigate the concerns and experiences of Iranian pregnant women in the fetal anomaly screening process., Methods: This qualitative study was performed from September 2018 to June 2019 in Tehran, Iran. Twenty pregnant women who referred to prenatal care clinics, four specialists, and two midwives took part in this study. The sampling was done purposefully until data saturation. Qualitative interviews were analyzed using the content analysis approach and Graneheim and Lundman's method. The MAXQDA 10 was used for data management., Results: The pregnant women who participated in the study were 22-40 years old. The following 4 themes were obtained from the analysis: the challenge of deciding to perform the tests, bitter pregnancy experience, challenges of facing an abortion, and unmet needs of pregnant women by the health system., Conclusion: The findings indicate that pregnant women need real information and support. Designing and implementing interventions that reduce the psychological impact of performing fetal anomaly screening tests can highlight the potential benefits for pregnant women's health., Competing Interests: None declared., (Copyright: © International Journal of Community Based Nursing and Midwifery.)

Background: Non-invasive prenatal screening (NIPS) is being increasingly used by expectant parents. Much provision of this test in Australia is occurring in clinical settings where specialised genetic counselling is unavailable, such as general practice. Potential psychosocial consequences from this kind of prenatal genetic screening remain largely unexplored., Aims: To explore clinicians' experiences with NIPS for aneuploidy, their perspectives of the benefits and harms of NIPS, clinicians' information needs, and their perceptions of the needs of expectant parents., Materials and Methods: Qualitative, semi-structured interviews with 17 health professionals (clinical geneticists, obstetricians, genetic counsellors and general practitioners) who request and counsel for NIPS in Australian hospital and private practice settings, conducted between June 2019 and February 2020., Results: Five themes were identified relating to clinicians' perceptions and experiences of NIPS in their practice: perceived benefits of NIPS, perceived harms of NIPS (with two subthemes: clinical harms and psychosocial harms), financial and equity-related concerns, counselling as a protective buffer against perceived harms, and clinicians' unmet education needs. While clinicians view NIPS as a useful and high-quality screening test, especially for detection of common trisomies, many participants had concerns about how NIPS has been implemented in practice, particularly the quality (and often absence) of pre-/post-test counselling and the routinisation of testing for sex chromosome aneuploidies, microdeletion and microduplication syndromes., Conclusion: These findings support the need for targeted clinician training around NIPS, and for a shared decision-making approach to support expectant parents' autonomous decisions about NIPS., (© 2022 The Authors. Australian and New Zealand Journal of Obstetrics and Gynaecology published by John Wiley & Sons Australia, Ltd on behalf of Royal Australian and New Zealand College of Obstetricians and Gynaecologists.)

Women's autonomy and an inclusive society for all individuals are highly valued in Norway. The Norwegian Biotechnology Act changed in 2020 allowing first-trimester screening and cell-free DNA for common trisomies to all pregnant women. However, implementing non-invasive prenatal testing (NIPT) in a public antenatal care program is difficult, because many patients, politicians, and medical professionals do not consider trisomy 21 a severe medical disease. Screening for trisomies at an early gestation might inevitably lead to an increase in pregnancy terminations and making cost-benefit calculations is ethically challenging. Moreover, offering NIPT to all pregnant women is debatable because of the lower prevalence of fetal trisomies in younger women. Therefore, appropriate genetic pre-test counseling is essential. Furthermore, organizing the service between private institutions and public hospitals poses another debate and challenges both quality and equal access to health services for women across the country., (© 2022 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).)

In Japan, prenatal testing does not include a publicly insured routine health check-up for pregnant women. Hence, taking advantage of such prenatal testing procedures is still not an option for a majority of Japanese women. However, social support systems for children and adults with disabilities have been developed with the assumption that people with disabilities will continue receiving support from their family members, especially their mothers. In this study, we described pregnant women's experiences regarding noninvasive prenatal testing (NIPT) within the context of their physical experiences during the NIPT process, Japanese society, and their medical circumstances. Women with no family history of genetic diseases or fetal disabilities and who had also received negative results after the NIPT explanation were recruited. Altogether, 15 women participated in the biographical narrative interview. The data were subjected to reflexive thematic analysis and signified advanced age for pregnancy as a trigger for both the women's consideration regarding receiving NIPT and interventions from their families and social group members. Participants considered themselves as the main caretaker for the older adults and individuals with disabilities and thus were afraid of the multiple responsibilities inherent in this reality. They were also concerned about the impact on any other siblings if the baby had disabilities. In addition, participants encounter physical and mental changes during the timeframe of the NIPT processes. Hence, as their fetuses mature, the psychological bonds the women develop with them are constantly evolving, and participants with histories of miscarriages or possible miscarriages expressed concerned not only about the results of NIPT but also about the specific possibility of losing their child in any way. In conclusion, the continuous support of these women throughout the NIPT process and social efforts for the improvement of the welfare system for people with disabilities are required to utilize NIPT effectively., (© 2021 National Society of Genetic Counselors.)

Objectives: Our primary objective was to evaluate how prenatal diagnosis of a major fetal structural anomaly and resulting pregnancy outcome affected postpartum depression risk, as assessed by the Edinburgh Postnatal Depression Scale (EPDS). Secondary objectives were to review the rate of mental health follow-up and subsequent diagnosis of postpartum depression in screen-positive women., Study Design: Singleton pregnancies with prenatal diagnosis of one or more major fetal structural anomalies were ascertained from prospectively maintained databases that included perinatal outcomes and subsequent EPDS responses from January 2010 to May 2018. EPDS scores of 13 or higher were considered positive and prompted referral for mental health follow-up, which was verified by medical record review. Statistical analyses were performed using Student's t -test, χ 2 , and odds ratios (ORs) with p  < 0.05 considered significant., Results: A total of 1,306 women had a prenatal diagnosis of one or more major fetal structural anomalies, 896 (68%) also had a postpartum EPDS screening, and 82 (9.2%) screened positive. Positive EPDS screening was more common with anomalies of multiple organ systems (16.5 vs 7.8%, p  = 0.002) and aneuploidy (17.1 vs 9.3%, p  = 0.02). Pregnancies complicated by fetal death, neonatal death, and termination for anomaly were significantly more likely to screen positive than those with neonatal survival to discharge (OR, 3.1 [95% confidence interval [CI], 1.6-6.2], 3.0 [95% CI, 1.5-5.8], and 4.4 [95% CI, 2.1-8.9], respectively, p ≤ 0.002). Of the 35 (43%) screen-positive women who attended follow-up appointments with mental health providers, 18 (51%) were diagnosed with a depressive disorder, accounting overall for 22% of those with a positive EPDS screen., Conclusion: Among women with a prenatal diagnosis of a major fetal structural anomaly, those experiencing a perinatal loss or pregnancy termination have an increased risk of positive EPDS screen result compared with who have a neonate surviving to discharge. A depressive disorder was diagnosed postpartum in 22% of these women with a positive EPDS screen. Our findings highlight the mental health needs in this vulnerable population., Key Points: · Adverse pregnancy outcome increased positive EPDS screen risk among women with prenatal anomalies.. · A depressive disorder was diagnosed postpartum in 22% of such women with a positive EPDS screen.. · Our findings highlight the mental health needs in this vulnerable population.., Competing Interests: None declared., (Thieme. All rights reserved.)

Objectives: To investigate the knowledge, attitudes, and practices of healthcare professionals (HCPs) working in prenatal diagnosis toward expanded non-invasive prenatal testing (NIPT) in China., Methods: We conducted a national online survey among HCPs working in prenatal diagnosis, including specialists in prenatal diagnosis and foetal medicine, obstetricians and gynaecologists, nurses in obstetrics and gynaecology, obstetric ultrasound doctors, and technicians in prenatal diagnosis laboratories. A total of 1882 questionnaires were collected, among which 1822 questionnaires met the research criteria and were included in the analysis., Results: More than 99% of all participants opted for NIPT for trisomies 21, 18, and 13. The rates of support for expanded NIPT for sex chromosome aneuploidies, rare autosomal trisomies, microdeletions and microduplications, and single-gene disorders were 93.9%, 88.6%, 89.4%, and 86.8%, respectively. Specialists in prenatal diagnosis and foetal medicine had greater knowledge but were less likely to support expanded NIPT compared to other participants. Knowledge increased with educational level, whereas support for expanded NIPT decreased with educational level., Conclusions: More than 80% of HCPs working in prenatal diagnosis in China expressed support for expanding NIPT to conditions other than common trisomies. The degree of knowledge was negatively associated with the rate of support., (© 2021 John Wiley & Sons Ltd.)

The diagnosis of fetal anomaly can be a major stressor to the expectant mother. Current understanding of the relationship between psychological stress and cortisol in pregnancy is limited. This study examined: (1) differences in the ratio of serum cortisol to cortisol binding globulin (SC/CBG) and cortisone levels among women with and without a diagnosis of fetal anomaly, (2) the association between self-reported stress and cortisol from mid to late pregnancy, and (3) the agreement between two different techniques for analyzing cortisol: liquid chromatography-tandem mass spectrometry (LC-MS/MS) and radioimmunoassay (RIA). Thirty-six pregnant women with a diagnosis of fetal anomaly (study group) and 101 women with healthy pregnancies (comparison group) provided blood samples and completed self-report questionnaires at gestational weeks 18-24 (T1) and 30 (T2). In the comparison group, mean SC/CBG increased from 0.341 nmol/L at T1 to 0.415 at T2 (p < .001), whereas in the study group there was no change (0.342 nmol/L at T1, 0.343 at T2). There was no difference in cortisone levels between the groups at either timepoints. There was a negative association between both depression and traumatic stress at T1, and SC/CBG at T2 (p < .05). There was no association between general distress and SC/CBG. The two methods for analyzing cortisol gave similar results, but with LC-MS/MS showing a lower detection limit than RIA. Increased cortisol with advancing gestational age is expected, thus these findings indicate that under certain conditions of severe stress there may be a suppression of maternal cortisol increase from mid to late gestation. The discrepancy does not seem to be due to differences in the metabolization of cortisol, as indicated by the similar levels of cortisone. Further research is needed in order to understand the potential underlying mechanisms limiting the expression of cortisol in response to certain types of stress in pregnancy., (Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background: Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guidelines emphasize the importance of informed decision-making and patient's preferences regarding the use of these screens. Yet, it is unclear how to achieve this ideal as prenatal genetic screening options rapidly become more complex and increasingly available to patients. With increased complexity and availability of reproductive testing options, decision-support strategies are critical to prepare patients to consider AS and/or CS., Methods: A self-administered survey evaluated knowledge and decision-making preferences for expanded carrier (CS) and aneuploidy (AS) prenatal screening. The survey was administered to participants before their first prenatal visit to assess baseline decision-making needs and preference at the initiation of prenatal care. Analysis was approached as a descriptive process., Results: Participants had similar familiarity with the concepts associated with AS compared to CS; mean knowledge scores for CS was 0.59 [possible range 0.00 to 1.00] and 0.55 for AS. Participants reported preferences to learn about a range of conditions, including those with severe or mild impact, childhood-onset, and adult-onset. Decision-making preference with respect to learning about the associated disease phenotypes for the contained on AS and CS panel shifted with the complexity of the panel, with a greater preference to learn about conditions post-test compared pre-test education as panels increased from 5 to 100 conditions., Conclusion: Patients' baseline knowledge of prenatal genetic screens coupled with evolving decision-making preferences presents challenges for the delivery of prenatal genetic screens. This calls for the development and implementation of innovative approaches to support pregnant patients' decision-making commensurate with advances in prenatal genomics., (© 2021. The Author(s).)

The aim of this scoping review was to explore interventions and their effect in facilitating decision making on prenatal screening and testing among pregnant women. This review was conducted according to the Joanna Briggs Institute Methods Manual for scoping reviews. Studies published 2000-2019 that consist of interventions to facilitate pregnant women's decision making in prenatal screening and testing were specifically reviewed. A total of 27 studies are included in this scoping review. In these studies, various methods, including face-to-face individual or group interventions, e-Health interventions, video-based interventions, written educational materials, and decision aid interventions, were developed and tested for their effectiveness in facilitating informed decision making on prenatal screening and testing. While these methods appeared to be effective, further studies involving diverse populations are needed to integrate them into practice. Genetic counselors and healthcare providers working with individuals who are referred for genetic education and counseling need to work collaboratively to facilitate informed decisions on prenatal screening of women and/or their partners., (© 2021 National Society of Genetic Counselors.)

Objective: Preconception and prenatal carrier screening is designed to provide reproductive risk information, but carriers for some autosomal recessive or X-linked conditions also have personal health risks. This study investigated the prevalence of and inclusion of personal health implications in pre- and post-test counseling., Methods: Twelve genetic conditions with personal health risks for carriers included on carrier screening panels but not otherwise screened routinely were identified (e.g., Gaucher disease with Parkinson's disease risk). A retrospective review was performed of patients with a positive carrier screen for one of these conditions at our center from 2012 to 2019., Results: Of 6147 individuals that had carrier screening for one of the twelve conditions, 96 (1.56%) did not report a known family history and screened positive for one of the conditions. Testing was ordered largely by reproductive endocrinologists (51.0%) and genetic counselors (35.4%). Most individuals did not receive pre- (96.8%) or post-test (64.6%) counseling about personal health risks. Post-test counseling was performed principally by genetic counselors (97.1%). For carriers of conditions with guidelines for specialist referral, most individuals (75.9%) were referred., Conclusion: Expanded genetic carrier screening increasingly identifies individuals with personal health implications, but patients are frequently not counseled before or after testing. These findings stress the importance of developing guidelines for practitioners about expanded carrier screening counseling and follow-up., (© 2021 John Wiley & Sons Ltd.)

Objective: We conducted a study to examine the impact of COVID on patients' access and utilization of prenatal genetic screens and diagnostic tests at the onset of the COVID-19 pandemic in the United States., Methods: We conducted telephone interviews with 40 patients to examine how the pandemic affected prenatal genetic screening and diagnostic testing decisions during the initial months of the pandemic in the United States. An interview guide queried experiences with the ability to access information about prenatal genetic testing options and to utilize the tests when desired. Audio recordings were transcribed and coded using NVivo 12. Analysis was conducted using Grounded Theory., Results: The pandemic did not alter most participants' decisions to undergo prenatal genetic testing. Yet, it did impact how participants viewed the risks and benefits of testing and timing of testing. There was heightened anxiety among those who underwent testing, stemming from the risk of viral exposure and the fear of being alone if pregnancy loss or fetal abnormality was identified at the time of an ultrasound-based procedure., Conclusion: The pandemic may impact patients' access and utilization of prenatal genetic tests. More research is needed to determine how best to meet pregnant patients' decision-making needs during this time., (© 2021 John Wiley & Sons Ltd.)

Introduction: in Africa, genetic diseases and congenital anomalies remain a significant source of morbidity and mortality. Existing data suggests a gap in the use of prenatal tests among pregnant women to better inform decision making. We examined relationships of socio-demographic factors with willingness to terminate affected pregnancies, and the use of, knowledge of, and attitudes towards prenatal screening/diagnostic tests., Methods: this was a cross-sectional descriptive study of pregnant women who attended antenatal clinics at the Lagos University Teaching Hospital (N = 422) selected by convenience sampling. Responses were obtained with assisted self-administered structured questionnaires., Results: mean ± S.D. age of the respondents was 32.5 ± 5.3 years. The majority of the participants (92.2%) had at least a secondary education. Ultrasound scans in the second trimester were the most frequently used test (39.1%). Only 77 (18.2%) of the respondents indicated willingness to terminate affected pregnancies. The majority of the respondents had fair knowledge and good attitude scores. Knowledge and attitude scores were significantly correlated (r = 0.25, p < 0.001). Compared to married women, being single was associated with a 2.62-point lower knowledge score (95% CI: -4.63, -0.62, p = 0.01). Compared to women who responded "no" when asked if they were willing to terminate an affected pregnancy, women who responded "maybe" had a 0.81-point lower attitude score (95% CI: -1.45, -0.17, p = 0.01)., Conclusion: our results suggest important socio-demographic differences in women´s knowledge/ behaviours towards prenatal diagnostic tests. Further research is needed to explore these relationships and broader pregnancy-related ethical beliefs among pregnant women in Lagos., Competing Interests: The authors declare no competing interests., (Copyright: Chibuzor Franklin Ogamba et al.)

Introduction: genetic diseases and congenital anomalies place a significant burden on the health of new-borns and their mothers. Despite the availability of a variety of prenatal screening tests, mothers' knowledge has been documented to determine uptake. This study aims to assess the knowledge of pregnant women about birth defects and the associated correlates with regard to willingness to do prenatal screening., Methods: a cross-sectional descriptive study was conducted among 422 antenatal mothers recruited sequentially as they attended antenatal clinics at the Lagos University Teaching Hospital. An interviewer-administered questionnaire was used to determine their knowledge of birth defects and willingness to do prenatal testing., Results: majority of the participants (92.2%) had at least secondary education. The mean total knowledge score of the respondents was 63%. Age and knowledge scores were not significantly correlated (r=-0.071, p=0.14). Being employed predicted higher knowledge scores (95% CI: 0.09, 2.09, p=0.03). Respondents who had primary school education and those who replied "I don't know" to willingness to test had significantly lower knowledge scores (95% CI: -15.01, -1.19, p=0.02 and 95% CI: -4.52, -0.68, p=0.01 respectively). Majority (79.1%) of the respondents were willing to undergo testing. Respondents' level of education was significantly associated with willingness to test (p=0.03)., Conclusion: the observed knowledge gaps were considerable. There is need for improvement in education, the empowerment of women and access to quality healthcare including prenatal screening., Competing Interests: The authors declare no competing interests., (Copyright: Chibuzor Franklin Ogamba et al.)

Objective: To study women's apprehensions, understanding and experiences of counselling concerning a screen-positive result in screening for fetal chromosomal defects., Methods: A questionnaire study including different steps of the prenatal screening process was carried out in Helsinki University Hospital. Women's experiences concerning counselling immediately after a screen-positive result and during further examinations in the Fetal Medicine Unit (FMU) were analyzed., Results: 143 women filled in the questionnaire. Less than half of the women considered the primary counselling after a screen-positive result to be explicit (43.9%) and sufficient (43.1%). In the FMU, 88.3% and 89.8% of women were satisfied with the explicitness and sufficiency of counselling. Most women (75%) experienced worry before further examinations but less than half (45%) had considered their personal values concerning diagnostic tests. Half (50.5%) of women expected the worry to continue even if diagnostic tests turn out normal. Most (81%) women were aware that diagnostic tests are voluntary and were confident (85.3%) with their decision to participate., Conclusions: After a screen-positive result, women have unanswered questions, experience anxiety and confusion. The possibility of an abnormal screening result is not seriously considered beforehand. To enable an informed consent for prenatal screening, improvements in prescreening counselling during the first visits of antenatal care need to be made., Competing Interests: The authors have declared that no competing interests exist.

Background: Postpartum depression (PPD) has been identified as a recognized public health problem that may adversely affect mothers, infants, and family units. Recent studies have identified risk factors for PPD in Westerners; however, societal and cultural differences between China and the West could, potentially, lead to differences in risk factors for PPD. No comprehensive study has been conducted to collect all the evidence to provide estimates of psychological and social risk factors in China. Therefore, this study aimed to quantitatively assess all studies meeting the review's eligibility criteria and identify the psychological and social risk factors for PPD in Chinese women., Methods: The following databases were used in the literature search from their inception until December 2020: PubMed, Embase, Foreign Medical Literature Retrieval Service (FMRS), China Science and Technology Journal Database (VIP), China National Knowledge Infrastructure (CNKI), and China Biology Medicine disc (CBM). The quality was assessed through Newcastle-Ottawa quality assessment scale. The I 2 statistic was used to quantify heterogeneity. We extracted data for meta-analysis and generated pooled-effect estimates from a fixed-effects model. Pooled estimates from a random-effects model were also generated if significant heterogeneity was present. Funnel plot asymmetry tests were used to check for publication bias. Statistical analysis was conducted using Review Manager version 5.3 software., Results: From a total of 1175 identified studies, 51 were included in the analysis. Prenatal depression (OR 7.70; 95% CI 6.02-9.83) and prenatal anxiety (OR 7.07; 95% CI 4.12-12.13) were major risk factors for PPD. A poor economic foundation (OR 3.67; 95% CI 3.07-4.37) and a poor relationship between husband and wife (OR 3.56; 95% CI 2.95-4.28) were moderate risk factors. Minor risk factors included a poor relationship between mother-in-law and daughter-in-law (OR 2.89; 95% CI 2.12-3.95), a lack of social support (OR 2.57; 95% CI 2.32-2.85), unplanned pregnancy (OR 2.55; 95% CI 2.08-3.14), and poor living conditions (OR 2.44; 95% CI 1.92-3.10), mother-in-law as the caregiver (1.95; 95% CI 1.54-2.48) ., Conclusions: This study demonstrated a number of psychological and social risk factors for PPD in Chinese women. The major and moderate risk factors are prenatal depression, prenatal anxiety, a poor economic foundation, and a poor relationship between husband and wife. These findings have potential implications for informing preventive efforts and modifying screening to target at-risk populations.

An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia, and skin. The characteristic ultrasound appearance includes a midline defect with herniation of abdominal contents into the base of the umbilical cord. Other anatomic abnormalities are seen in approximately 50% of cases, most notably cardiac defects (19%-32%). Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell and Beckwith-Wiedemann syndrome. Therefore, a thorough evaluation is recommended, including detailed anatomic survey, fetal echocardiogram, genetic counseling, and prenatal diagnostic testing. Overall prognosis depends on the size of the omphalocele, genetic studies, and associated anomalies. Early prenatal diagnosis remains important in order to provide parental counseling and assist in pregnancy management. Delivery should occur at a tertiary care center. Timing and mode of delivery should be based on standard obstetric indications with cesarean delivery reserved for large omphalocele (>5 cm) or those that involve the fetal liver. Neonatal management involves either primary or staged reduction, both of which can be associated with a prolonged neonatal hospitalization., (© 2021 John Wiley & Sons Ltd.)

Objective: To evaluate nurse practitioner and medical students' knowledge, self-efficacy, and motivation for antepartum depression screening and education before and after an online educational intervention., Design: Quasi-experimental study design., Setting/local Problem: The University of South Florida, College of Nursing and College of Medicine. Historically, nursing and medical school curricula have a focus on postpartum depression. Testing nurse practitioner and medical students regarding maternal depression throughout pregnancy may give insight into curriculum preparedness., Participants: Medical and nurse practitioner students were recruited by convenience sampling. In total, 71 participants completed the study. There were 52 (73%) nurse practitioner students and 19 (27%) medical students., Intervention/measurements: Participants used a self-directed learning activity in the form of a slide presentation on the virtual platform REDCap. Knowledge was tested before and after the intervention using the "Speak Up When You're Down"-Postpartum Depression Awareness Campaign examination. Self-efficacy and motivation were measured before and after the intervention by using the Physician/Nurse Practitioner Student Teaching Self-Efficacy Questionnaire and the Physician/Nurse Practitioner Student Teaching Motivation Questionnaire., Results: Nurse practitioner and medical students exhibited a mean increase in scores for knowledge, self-efficacy, and motivation. Both groups performed similarly from before to after the intervention, and student profession did not moderate the increase from before to after the intervention., Conclusion: An intervention to influence health care students' knowledge, self-efficacy, and motivation for antepartum depression screening can be included in medical and nursing curricula and can also be used with currently practicing health care providers. Doing so could possibly benefit pregnant women by enhancing the antepartum care that they receive., (Copyright © 2021 AWHONN. Published by Elsevier Inc. All rights reserved.)

New technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread and available, which has in turn led to ethical and policy challenges that need addressing. NIPT is not yet a diagnostic tool, but can still provide information about fetal genetic characteristics (including sex) very early in pregnancy, and there is no denying that it offers valuable opportunities for pregnant women, particularly those at high risk of having a child with severe genetic disorders or seeking an alternative to invasive prenatal testing. Nonetheless, the ethical, legal and social implications (ELSI) include multiple aspects of informed decision-making, which can entail risks for the individual right to procreative autonomy, in addition to the potential threats posed by sex-selective termination of pregnancy (in light of the information about fetal sex within the first trimester), and the stigmatization and discrimination of disabled individuals. After taking such daunting challenges into account and addressing NIPT-related medicolegal complexities, the review's authors highlight the need for an ethically and legally sustainable framework for the implementation of NIPT, which seems poised to become a diagnostic tool, as its scope is likely to broaden in the near future.