Search

We present the clinical case of a 42-year-old pregnant woman whom fetal death was confirmed with a delay of up to 11 weeks. At the time of the confirmation of the death, the patient undergone a medically-motivated abortion in a context of congenital heart disease associated with a trisomy 21. Major ambivalence to proceed to medically-motivated abortion resulted in important care discontinuity with potentially severe consequences for the mother health. To better understand the psychological aspects underlying it resistance to care, a qualitative analysis of series of semi-structured interviews conducted with varied professionals involved in the care were conducted. The patient's obstetrical medical history (including several unfinished pregnancy and medical complications) was worth considering to better understand the patient's stress reactions and her low level of compliance and trust in medical team. This clinical case illustrates how psycho-trauma related to perinatal bereavements could be reactivated during a new pregnancy. This situation also illustrates the function and the limits of a psychological perinatal team which aims to foster adaptive strategies and mentalizing abilities at the patient-but also the professional-level. [ABSTRACT FROM AUTHOR]

Key content: Fetal cardiac arrhythmias are relatively common and account for up to 20% of referrals to fetal cardiologists.Arrhythmias may occur because of structural abnormalities of the fetal heart, or because of abnormal functioning of the cardiac conduction system in an otherwise structurally normal heart.Arrhythmias may be diagnosed using ultrasound and M‐mode and Doppler echocardiography.Transplacental therapy for tachyarrhythmias has been one of the success stories of fetal cardiology, and good outcomes can be expected in the absence of hydrops.Congenital heart block is most commonly caused by the transplacental passage of anti‐Ro and anti‐La antibodies and transplacental therapy is less successful in managing this. Learning objectives: To enable clinicians to provide better counselling for patients about the prognosis of fetal arrhythmias.To learn how to diagnose fetal arrhythmias and know when to refer to a specialist centre if the diagnosis is suspected.To understand the treatment options available and the evidence‐based antenatal care schedule. [ABSTRACT FROM AUTHOR]

Objectives: To perform a systematic review and meta‐analysis of the diagnostic test accuracy of ultrasound and magnetic resonance imaging (MRI) and compare the performance of the two modalities in the diagnosis of placenta accreta spectrum (PAS). Methods: This was a systematic review conducted following the Cochrane Diagnostic Test Accuracy Reviews guideline. A literature search was performed in five databases: PubMed, EMBASE, PMC, The Cochrane Library and BVS‐Bireme between 27 July and 4 August 2020. The search was updated on 18 August 2021. We included observational studies evaluating diagnostic accuracy in women with risk factors for PAS who had undergone both ultrasound and MRI examinations, published in English between 2011 and 2021. Quality Assessment of Diagnostic Accuracy Studies‐2 was used to evaluate the quality of the studies. Forest plots for sensitivity and specificity with 95% CIs and receiver‐operating‐characteristics curves for ultrasound and MRI were constructed. Results: The literature search identified 266 studies. After reviewing the titles and abstracts of the articles, 51 were selected for full‐text review and 17 studies including 1301 women with MRI and ultrasound data available were selected for the meta‐analysis. The study population included 457 cases with PAS diagnosed using the gold standard method (intraoperative or histopathological analysis). The overall quality of the evaluated studies was considered satisfactory according to QUADAS‐2. The meta‐analysis revealed a sensitivity of 0.833 (95% CI, 0.776–0.878) and specificity of 0.834 (95% CI, 0.746–0.897) for ultrasound. For MRI, sensitivity was 0.838 (95% CI, 0.786–0.879) and specificity was 0.831 (95% CI, 0.770–0.878). There was no statistically significant difference between the two modalities. The Cochran's Q values indicated a high level of heterogeneity of sensitivity and specificity of ultrasound and MRI across studies. Conclusions: Ultrasound and MRI have similar accuracy in the diagnosis of PAS. These results suggest that, in a setting with a high prevalence of risk factors, the choice of imaging modality for initial screening for PAS should depend on the availability of equipment and the examiner's expertise. © 2022 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objectives: To explore the effects of maternal and fetal outcomes after different diagnostic timings of placenta accreta and its types. Methods: We retrospectively collected the clinical information of 1178 pregnant women with placenta accreta in Fujian Maternity and Children Health Hospital from January 2012 to January 2017. According to the different diagnostic timings of placenta accreta, they were divided into groups of prenatal diagnosis and postpartum diagnosis; and according to the types of placenta accreta, they were divided into groups of accreta group, increta group, and percreta group. Results: 1. Women with antenatal diagnosis more often had placenta previa and history of previous cesarean section. 2. Women with antenatal diagnosis had a higher rate in blood loss and blood transfusion. 3. The rate of blood loss, blood transfusion, infection,disseminated intravascular coagulation (DIC), secondary laparotomy, hysterectomy had statistically significant differences (P < 0.05) in different types of placenta accreta. The deeper of placenta accreta, the higher the incidence of complications. Conclusion: It is important to pay attention for risk factors of the placenta accreta, then improve prenatal diagnostic rate of the placenta accreta and its types, which can forecast the severity of illness to improve maternal and fetal outcomes.

Diagnosis of isolated total anomalous pulmonary venous connections (TAPVCs) is relatively rare in fetal life, especially in early gestation. We report a case of a fetus diagnosed with the supracardiac type of TAPVC at 23 weeks gestation, with evidence of obstruction to connection of the common vertical vein to the superior vena cava. The neonate had a critical presentation at birth and underwent an emergency surgical repair immediately after birth with excellent outcome on short term follow-up with the resolution of pulmonary artery hypertension.

Introduction and aims: As directed by the WHO, antenatal care providers have good opportunities to identify and refer mothers who are struggling with psychosocial problems. In Ethiopia, the pooled prevalence of perinatal depression is 25.8%, which is almost two-fold of the pooled global prevalence. Though this is an indication of the need for prompt interventions, there is no assessment targeted to this population. Therefore, the aim of this project was to promote an antenatal psychosocial assessment practice among midwives. Methods: Using the Joanna Briggs Institute Practical Application of Evidence System, 66 first visit antenatal care assessment opportunities were observed in both baseline and follow-up audit using three audit criteria. Fourteen midwives were interviewed for the first criterion. On the basis of the results, the gaps and barriers were analyzed using Getting Research into Practice strategies. Result: The baseline audit result revealed a 0% compliance rate for all evidence-based antenatal psychosocial assessment audit criteria. This scenario disclosed that there had not been psychosocial problem assessment practice at antenatal clinic. However, the postimplementation result showed that an average 91.5% practice of evidence-based antenatal psychosocial assessment was applied as per standards. Conclusion: Carrying out discussions on evidence summary with providers, on-the-job training, using local leaders' opinions, and involving relevant stakeholders appeared to be the key methods in improving compliance to best available evidence in antenatal psychosocial assessment. [ABSTRACT FROM AUTHOR]

Background: Gastroschisis often has a fatal outcome in developing countries. Its outcome is taken as an indicator of the level of healthcare in a particular healthcare facility. The aim was to study the outcome of the management of gastroschisis and to identify the main challenges of its treatment in a country with limited resources. Methods: This is a prospective and descriptive study conducted over a period of 4 years (2016-2020). It included all the neonates admitted to the two referral hospitals of our country with the diagnosis of gastroschisis. Each of the university hospitals had a neonatology unit. Parenteral nutrition and assisted ventilation were not available. Results: Twenty patients were admitted to our hospitals with an annual frequency of five cases. The sex ratio (M:F) was 1.5. Only one of the 20 mothers (5%) of the patients had an antenatal diagnosis and was the only one born in a university hospital. The remaining (19-95%) were referred to a university hospital after their birth. None of the 20 patients had received parenteral nutrition. Surgically, seven babies (35%) had benefited from the placement of a silo with progressive reduction of the bowels. The mortality of gastroschisis was 100% and the average life span of the patients was 4.5 days [1-20 days]. Conclusion: It is important to act appropriately on the whole chain of management of gastroschisis from antenatal diagnosis to treatment so that this pathology is no longer fatal for newborns in countries with limited resources. [ABSTRACT FROM AUTHOR]

Conjoined twins are a rare form of monozygotic and monoamniotic twins. Fetal prognosis is very poor and, if the diagnosis is made early, it most often requires therapeutic abortion. We here report a case of three-hour old thoracopagus conjoined twins who were born vaginally, at term, at 40 weeks + 3 days. They were born to non-consanguineous parents, without any significant pathological history. Their mother was young and primiparous. She received 5 antenatal visits and 3 obstetric ultrasounds were performed by an inexperienced physician. The diagnosis of thoracopages twins was suspected based on clinical examination and computerized tomography (CT) results. This test showed cardiovascular abnormalities incompatible with life. The twins died after 23 hours of age due to acute respiratory distress. Conjoined twins are a rare congenital abnormality. Early diagnosis based on ultrasound would help to determine common anatomical structures, investigate associated congenital abnormalities, schedule delivery in a suitable structure and multidisciplinary neonatal management. [ABSTRACT FROM AUTHOR]

Abstract Background Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national level. The aim of our study is to conduct a descriptive exploratory analysis of congenital malformations cases diagnosed at the “Les Orangers” Maternity and Reproductive Health Hospital in Rabat. Methods We collected all the cases of congenital malformations diagnosed at the “Les Orangers” Maternity and Reproductive Health Hospital in Rabat, from January 1st, 2011 to June 31st, 2016. Data were reported on pre-established sheets and on a registry of malformations. Total and specific prevalences were calculated for each malformation. A principal component analysis (PCA) was then conducted followed by a Varimax rotation in order to identify the different associations of malformations in our series. Results We registred 245 cases of congenital malformations out of a total of 43,923 recorded births; a prevalence of 5.58 per thousand births of which 19.2% were FDIU (fetal deaths in utero). A polymalformative syndrome was found in 26.5% of cases which makes a total number of 470 anomalies. The musculoskeletal anomalies predominate with a rate of 33%, followed by neurological abnormalities 18%, of whom 31% were hydrocephalus, 26.2% anencephaly, and 20.24% spina bifida. Malformations of the eye, ear, face and neck were described in 12% of the cases, while genetic abnormalities were observed in 8,5% of which 87.5% represented Down syndrome. The antenatal diagnosis of congenital malformations was performed in 28.6% of cases. Conclusions Our study provides a general overview of the epidemiological situation related to different types of congenital anomalies for a specific area in Morocco. It represents a database that should be complemented by other multicenter studies and the implementation of a national registry to determine the prevalence of congenital malformations at a national level.

Abstract Craniorachischisis totalis is an uncommon and severe form of neural tube defect. It is characterized by anencephaly and spina bifida throughout the vertebral column accompanied by herniation of neural tissue and meninges. Hepatic calcification in the fetus is rare and its clinical significance is not fully established.

Vesicoureteric reflux (VUR) diagnosed following investigation of prenatally-detected urinary tract dilatation (UTD), often remains asymptomatic and yet raises much parental and medical anxiety and management conundrums. Previous studies suggest that "prenatal" VUR appears to have a different natural history to that of VUR diagnosed following investigation of recurrent febrile urinary tract infections (UTIs). The concept is not new: reports from Great Ormond Street (1997) and the Society for Fetal Urology registry (1999) highlighted the characteristics of VUR patients diagnosed following investigation of prenatal hydronephrosis, who were noted to be predominantly male with high-grade VUR and established renal uptake defects on DMSA. To date, studies on VUR management and outcome have included both prenatally-diagnosed and symptomatic patients, confounding the results. Studies focussing specifically on the asymptomatic cohort are few, and generally only include patients on prophylaxis. Hence the true natural history of the condition is not known. A systematic review of 18 articles including 829 asymptomatic infants, of whom 473 (69.4 %) were males and 48.7 % had high grade (IV-V) VUR, revealed that 15.4 % of infants developed at least one breakthrough UTI despite initiation of CAP from birth. The limited data available showed no conclusive benefit of CAP, primarily due to lack of a strong comparator cohort. The recent PREDICT trial is the only randomised controlled trial to date, specifically on asymptomatic patients, assigned to prophylaxis or no treatment. Febrile UTI's mostly occurred in the first 6 months, in 21 % of the prophylaxis group vs 35 % of the no treatment group. Although the trial showed a small significant benefit of prophylaxis, this came at the expense of non-E Coli and resistant UTI's in the prophylaxis group. Importantly, there was no difference between the groups in the incidence of new scars at 2-year follow up. The authors concluded that prophylaxis might only be of benefit in girls, for the first year only. This thought-provoking study challenged current practice and led to this narrative review, aimed at a critical appraisal of the literature on this topic., Competing Interests: Conflict of interest I am a Consultant for Teleflex but have not received funding for this review., (Copyright © 2024 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Background: The umbilical cord forms the connection between the fetus and the placenta at the feto-maternal interface and normally comprises two umbilical arteries and one umbilical vein. In some cases, only a single umbilical artery (SUA) is present. This study was conducted to evaluate associations between SUA and other congenital malformations discovered in perinatal autopsies and to ascertain the existence of preferential associations between SUA and certain anomalies., Methods: We evaluated records of all fetuses sent for autopsy to the Department of Pathology during the 10-year period from 2013 through 2022 (n = 1,277). The data were obtained from the hospital's pathology laboratory records. The congenital anomalies were grouped by organ or system for analysis and included cardiovascular, urinary tract, nervous system, gastrointestinal tract, musculoskeletal, and lung anomalies., Results: A SUA was present in 8.61% of the autopsies. The gestational age of the affected fetuses ranged between 13 to 40 weeks. An SUA presented as an isolated single anomaly in 44 cases (3.4%). Of the 110 SUA cases, 60% had other congenital anomalies. There was a significant association between birth defects and SUAs (p < .001). Strong associations between SUA and urinary tract, lung, and musculoskeletal anomalies were observed., Conclusions: A SUA is usually seen in association with other congenital malformations rather than as an isolated defect. Therefore, examination for associated anomalies when an SUA is detected either antenatally or postnatally is imperative. The findings of this study should be helpful in counseling expectant mothers and their families in cases of SUA.

Diprosopus is one of the rarest types of conjoined twins, caused by incomplete zygote separation in early pregnancy. It defines a condition with duplication of facial structures, monocephalic and 1 trunk. Early detection is difficult, but fetal MRI plays an important role in strengthening antenatal diagnosis of conjoined twin pregnancies and other major congenital abnormalities, complementing antenatal ultrasonography. A 28-year-old patient (G2P1A0) was referred from the regional general hospital for suspected malformations, including Dandy-Walker syndrome and a small mandible Antenatal 3-D ultrasound at 35 weeks revealed a single baby with macrosomia, hypoplasia of the vermis, and cleft lip with malformation of facial structures. A 3 Tesla MRI (Signa, GE Healthcare) revealed various developmental brain anomalies, including duplication of the frontotemporal lobes, corpus callosum agenesis, and small posterior fossa. The identification of 4 orbital structures raised suspicions of face duplication. This patient underwent a caesarean section and delivered a diprosopus twin baby. MRI emerged as an indispensable adjunct, complementing ultrasound in detecting congenital malformations. The success of this approach emphasizes collaborative efforts between clinicians and radiologists for accurate identification and management of complex fetal anomalies., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

The simultaneous occurrence of an atrioventricular canal defect (AVCD) and Ebstein's anomaly is extremely rare, occurring in less than 0.5% of all patients with AVCD. Only 22 cases are described in the literature. This patient's antenatal diagnosis of both Ebstein's anomaly and partial AVCD was made at 25 weeks of gestation. The delivery was organized in a tertiary center. The initial neonatal course was difficult but with adequate treatment, a rapid improvement allowed for a gap of almost 2 years before a complete surgical repair including a cone tricuspid plasty. To our knowledge, this is the first case of antenatal diagnosis, with carefully tailored delivery, neonatal care and subsequent follow-up before indication for successful surgery [ABSTRACT FROM AUTHOR]

Introduction: The aetiology and management of ovarian pathology in children differs between antenatal and postnatal lesions. However, all lesions may present acutely due to adnexal torsion. In this setting, opportunities to preserve fertility with ovary-sparing surgery (OSS) may be missed. Some studies suggest that pediatric and adolescent gynaecology (PAG) input in care is associated with OSS.Methods: A retrospective cohort study of children undergoing surgery for ovarian pathology at a tertiary pediatric surgery centre over an 8-year period (2011-2018). Patient factors, lesion characteristics and PAG involvement were examined for association with OSS using multivariate logistic regression.Results: Thirty-five patients with ovarian pathology managed surgically were included. Ten were infants with lesions detected antenatally; all were managed by pediatric surgeons (PS) alone at median age 2 weeks (1 day-25 weeks). Twenty-five patients presented postnatally at median age 11 (0.75-15) years. In total, there were 16 cases of adnexal torsion, each managed primarily by PS. Twelve underwent oophorectomy and six (50%) of these cases had viable ovarian tissue on histology. Furthermore, two infants with large simple cysts were similarly managed by unnecessary oophorectomy based on histology. Overall rate of OSS was 46% and PAG involvement was the only factor associated with ovarian salvage.Conclusion: Differences in surgical management between PAGs and PS may be attributable to the different patient populations they serve. We recommend improving the knowledge of PS trainees in OSS approaches for adnexal torsion and large benign lesions. [ABSTRACT FROM AUTHOR]

Double chambered left ventricle is an exceedingly rare congenital anomaly. We report a case diagnosed prenatally at 24 weeks of gestation and its postnatal evolution to left ventricular dysfunction. [ABSTRACT FROM AUTHOR]

Diagnosis of isolated total anomalous pulmonary venous connections (TAPVCs) is relatively rare in fetal life, especially in early gestation. We report a case of a fetus diagnosed with the supracardiac type of TAPVC at 23 weeks gestation, with evidence of obstruction to connection of the common vertical vein to the superior vena cava. The neonate had a critical presentation at birth and underwent an emergency surgical repair immediately after birth with excellent outcome on short term follow-up with the resolution of pulmonary artery hypertension. [ABSTRACT FROM AUTHOR]

Melena is reported in 1 of 350 to 400 new-borns. Significant upper gastrointestinal bleeding in a neonate with an antenatally diagnosed abdominal mass has not been reported before. This case highlights an unusual presentation of a gastric teratoma and proposes a probable embryological explanation for the site of occurrence. [ABSTRACT FROM AUTHOR]

Abstract Background Visible congenital malformations (VCMs) are one of the principal causes of disability in the world. Prenatal diagnosis is a paramount mandatory integral part of the follow up of pregnancies with VCM of the foetus in high-income setting. We aimed to determine the incidence of prenatal diagnosis of VCMs in a low-resource setting with no policy on antenatal diagnosis of VCMs. Methods We carried out a prospective cohort multicenter study from July 2015 to June 2016 in 10 randomly selected maternity units of Yaoundé, Cameroon. We enrolled all newborns with one or more detectable VCMs at birth. Variables studied were findings of the 1st, 2nd and 3rd trimesters’ obstetrical ultrasound scans, in order to establish a concordance between the clinical and sonographic diagnoses of the VCMs and determine the frequency of antenatal diagnosis as well as the rate of medical abortion. Results The incidence of VCMs was 9 per 1000 births. The main VCMs were malformations of the skeletal (4.3%), neurological (2.2%), and gastrointestinal (2.1%) systems. The sex ratio was 1.1. Among the malformed newborns, 37% were premature and in 18.5% the diagnosis of a VCM was confirmed after a therapeutic termination of pregnancy (following suggestive findings of a malformation on antenatal ultrasound scan). The prevalence of sonographic antenatal diagnosis of VCMs was 21%. Hydrocephalus was the most diagnosed VCM antenatally. The mean gestational age at which antenatal clinics were initiated was 15 ± 5 weeks. The mean number of obstetrical ultrasound scans performed was two. Conclusion The incidence of VCMs in our resource-limited setting is high and antenatal diagnosis rates are very low. Overall, our study emphasizes on the importance antenatal diagnosis of VCMs, often overlooked in our setting. The goal being to reduce maternal and foetal morbidity in a setting already burdened by a high maternal and neonatal mortality.

We conducted a study of five patients with congenital diaphragmatic hernia (CDH) in the department of antenatal diagnosis over a period of two years. Our study highlights the overall benchmarks for this disease and its management as well as the news on prenatal assessment of neonatal prognosis using Lung Over Head Ratio (LHR): ultrasound versus magnetic resonance imaging (MRI) in the third world. The purpose of this study is to evaluate the prognosis of these new-born babies and support parents of a fetus with diaphragmatic hernia. [ABSTRACT FROM AUTHOR]

Prenatal trisomy 21 (T21) screening commonly involves testing a maternal blood sample for fetal DNA aneuploidy. It is reliable but poses a cost barrier to universal screening. We hypothesized maternal plasma RNA screening might provide similar reliability but at a lower cost. Discovery experiments used plasma cell-free RNA from 20 women 11–13 weeks tested by RNA and miRNA microarrays followed by qRT-PCR. Thirty-six mRNAs and 18 small RNAs of the discovery cDNA were identified by qPCR as potential markers of embryonic T21. The second objective was validation of the RNA predictors in 998 independent pregnancies at 11–13 weeks including 50 T21. Initial analyses identified 9–15 differentially expressed RNA with modest predictive power (AUC < 0.70). The 54 RNAs were then subjected to machine learning. Eleven algorithms were trained on one partition and tested on an independent partition. The three best algorithms were identified by Kappa score and the effects of training/testing partition size and dataset class imbalance on prediction were evaluated. Six to ten RNAs predicted T21 with AUCs up to 1.00. The findings suggest that maternal plasma collected at 11–13 weeks, tested by qRT-PCR, and classified by machine learning, may accurately predict T21 for a lower cost than plasma DNA, thus opening the door to universal screening.

Conjoined twins occur in an estimated one in every 200,000 live births. The etiology remains largely speculative, with genetic and environmental factors being considered. The thoraco-omphalopagus type accounts for approximately 40% of cases, making it a focal point for clinical and radiological research. Radiological imaging plays a pivotal role in delineating anatomical details, offering insights into the feasibility of surgical interventions and informing parental counselling regarding prognosis and management options. We present a case of thoracoomphalogus conjoined twins diagnosed during the third trimester of pregnancy in a 19-year-old woman. The detailed radiological assessment using ultra-sound and MRI provided crucial information on organ sharing and vascular anatomy, which is critical for management strategies. This case underscores the critical role of prenatal imaging in detecting complex congenital anomalies, facilitating informed decision-making by healthcare providers and families., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Abstract Background Gastroschisis is a congenital anomaly of the fetal abdominal wall, usually to the right side of umbilical insertion. It is often detected by routine antenatal ultrasound. Significant maternal and pediatric resources are utilised in the care of women and infants with gastroschisis. Increasing rates of gastroschisis worldwide have led institutions to review local data and investigate outcomes. A collaborative project was developed to review local epidemiology and investigate antenatal and neonatal factors influencing hospital length of stay (LOS) and total parental nutrition (TPN) in infants born with gastroschisis. Methods We performed a five-year review of infants born with gastroschisis (2011–2015) at a major Australian centre. Complex gastroschisis was defined as involvement of stenosis, atresia, ischemia, volvulus or perforation and closed or vanishing gastroschisis. We extracted data from files and databases at the two participating hospitals, a major maternal fetal medicine centre and the affiliated children’s hospital. Results There were 56 infants antenatally diagnosed with gastroschisis with no terminations, one stillbirth (2%) and one infant with ‘vanishing’ gastroschisis. The mean maternal age was 23.9 years (range, 15–39 years). The mean gestation at delivery was 36 weeks (range, 25–39+ 3 weeks). Of the 55 neonates who received surgical management, 62% had primary closure. The median LOS was 33 (IQR, 23–45) days and the median duration of TPN was 26 (IQR, 17–36) days. Longer days on TPN (median 35 vs 16 days, P = 0.03) was associated with antenatal finding of multiple dilated bowel loops. Postnatal diagnosis of complex gastroschisis was made in 16% of cases and was associated with both longer LOS (median 89 vs 30 days, P = 0.003) and days on TPN (median 46 vs 21 days, P = 0.009). Conclusion Complex gastroschisis was associated with greater days on TPN and LOS. We found no late-gestation stillbirths and a low overall rate of 1.8%, suggesting the risk for stillbirth associated with gastroschisis is lower than previously documented. This information may assist counselling families. Improved data collection worldwide may reveal causative factors and enable antenatal outcome predictors.

Background: Screening for anomalies in the antenatal period has resulted in a rapid surge in the identification of fetal hydronephrosis, which forms a formidable task for the treating physician. Summary: Pelvi-ureteric junction obstruction ranks the foremost among the children with antenatally diagnosed hydronephrosis. The dilemma of whether a dilated pelvicalyceal system is obstructed, and in need of surgical intervention to salvage from renal impairment, is a relevant point in the post-natal management of hydronephrosis detected antenatally. Key message: Majority of Hydronephrosis detected antenatally would require observation and the renal units identified to have obstruction need to be followed up with appropriate decision making on the need for surgery. [ABSTRACT FROM AUTHOR]

Through the forecast context that it creates, the prenatal diagnosis, both on the baby's side and on its environment, is an experimental situation of chain emotional resurgences that makes it possible to analyze how areas of memory are reactivated to cope with the anticipation of the future stages of pregnancy, birth and the first years of the child's life. Interdisciplinarity within the field of obstetrics had enabled child psychiatrists to be alert to the emergence of deleterious emotional disorders in the establishment of parent-child relationships: interactive disharmony, postpartum depression, and subsequent developmental disorders. The teams discovered their own capacities to refine the identification of emotional shifts and the decoding of states of parental distress. The anniversary dates that mark psychic life had long alerted psychotherapists who interpreted the impact after the fact. The turning point offered by the active approach to anticipating antenatal diagnosis is to allow the context of the occurrence of emotional reactivation to occur when it occurs, thereby mobilizing the risk of traumatic repetition. By taking a detailed anamnesis, anticipating the dates at risk becomes a major public health issue for each professional involved in obstetrical monitoring, provided that he/she does not remain alone in the face of a complex family situation. The possibilities of intervention of the child psychiatrist/psychologist in first and/or second line allow the whole team to enrich their prevention capacities. [ABSTRACT FROM AUTHOR]

Posterior urethral valves (PUV) represent one of the main etiologies of end stage renal failure in male children. Furthermore, this anomaly represents the most common cause of lower urinary tract obstruction in the fetus; their incidence is about 2.1/10,000 births. Antenatal diagnosis allows considering termination of the pregnancy for the more serious cases (those with severe oligohydramnios and/or polymalformative syndrome). For less severe cases, it permits optimization of the postnatal management. At each stage, at each age, a multidisciplinary approach is mandatory in order to optimize the follow-up and to provide complete information to the parents and professionals caring for the patients. The present review article considers the every patients journey starting from the antenatal diagnosis, followed by the neonatal management and subsequently surveillance throughout adolescence. The aim being to treat as rapidly as possible complications that may occur and preventing evolution towards end- stage renal failure. The multidisciplinary approach along with constant exchange of information allows a continuous optimized management. [ABSTRACT FROM AUTHOR]

Some clinical situations in antenatal diagnosis are particularly complex due to severe foetal malformations. These abnormalities are often the reason that the parents terminate a pregnancy, as the risks regarding the baby's future quality of life are too high. This article presents a specific situation in which the parents, despite the severe abnormalities of their future child, decide to continue the pregnancy. In addition, during the child's hospitalisation, they opposed the termination of medical procedures requested by the paediatric team. Regarding the many questioning of the medical team, we would like to contribute our commentary as parents. Specifically, as parents who listen to other parents. Aside from the case studied here, our aim is to aid medical teams to be more adjusted to their patients and to improve their practice, by taking into account what is at stake for the parents. [ABSTRACT FROM AUTHOR]

Objective: To assess the effect of antenatal diagnosis of placenta accreta spectrum (PAS) on fetomaternal outcomes. Material and Methods: This was a retrospective cohort study conducted from January 2017 to December 2018. Women with PAS diagnosed antenatally were designated as group A and those where diagnosis was suspected during operation and confirmed on histopathology (PAS diagnosed perioperatively) were designated as group B. Outcome in terms of uterine conservation, maternal death, admission of mother to intensive care unit (ICU), perinatal death and neonatal ICU (NICU) admission were recorded. Results: During the study, PAS was confirmed in 96 cases which were included. Out of these, 34 (35.4%) cases were included in group A while 62 (64.6%) were diagnosed intraoperatively (group B). The median number of units of blood transfused was lower in group A compared to group B (4 vs 6, p<0.001). The uterus was conserved more often in group A compared with group B (67.6% vs 43.5%, p=0.024) while admission to ICU occurred significantly more often in group B (26.5% vs 59.7%, p=0.002). Maternal death (p=0.038) and perinatal death (p=0.008) were also significantly higher in group B. More neonates delivered to mothers in group B were admitted to NICU (85.7% vs 24%, p=0.033). Survival analysis showed a statistically significant increase in uterine conservation rate in group A compared with group B (log rank, p=0.04). Conclusion: PAS diagnosed antenatally has better fetomaternal outcome than intraoperative detection of PAS. Diagnosing PAS antenatally is therefore crucial to improve management and achieve a better outcome. [ABSTRACT FROM AUTHOR]

Background: Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national level. The aim of our study is to conduct a descriptive exploratory analysis of congenital malformations cases diagnosed at the "Les Orangers" Maternity and Reproductive Health Hospital in Rabat.Methods: We collected all the cases of congenital malformations diagnosed at the "Les Orangers" Maternity and Reproductive Health Hospital in Rabat, from January 1st, 2011 to June 31st, 2016. Data were reported on pre-established sheets and on a registry of malformations. Total and specific prevalences were calculated for each malformation. A principal component analysis (PCA) was then conducted followed by a Varimax rotation in order to identify the different associations of malformations in our series.Results: We registred 245 cases of congenital malformations out of a total of 43,923 recorded births; a prevalence of 5.58 per thousand births of which 19.2% were FDIU (fetal deaths in utero). A polymalformative syndrome was found in 26.5% of cases which makes a total number of 470 anomalies. The musculoskeletal anomalies predominate with a rate of 33%, followed by neurological abnormalities 18%, of whom 31% were hydrocephalus, 26.2% anencephaly, and 20.24% spina bifida. Malformations of the eye, ear, face and neck were described in 12% of the cases, while genetic abnormalities were observed in 8,5% of which 87.5% represented Down syndrome. The antenatal diagnosis of congenital malformations was performed in 28.6% of cases.Conclusions: Our study provides a general overview of the epidemiological situation related to different types of congenital anomalies for a specific area in Morocco. It represents a database that should be complemented by other multicenter studies and the implementation of a national registry to determine the prevalence of congenital malformations at a national level. [ABSTRACT FROM AUTHOR]

Congenital hernia of the diaphragmatic dome (CDC) is a congenital embryopathy where all or part of the diaphragmatic dome fails to form. Its rate is 1/3500 live births with a male predominance. This study reports a case of Bochdalek hernia as well as data in the literature and highlights the diagnostic and therapeutic challenges in this disease. Diagnosis and antenatal management are essential to reduce patient's mortality and morbidity. Prognosis is poor and depends on the presence and degree of pulmonary hypoplasia and on the association with congenital malformations. [ABSTRACT FROM AUTHOR]

Among congenital malformations of the gastrointestinal tract, the most frequent pathology is the esophageal atresia. The subsequent implications are impairment of physiological processes, such as feeding or swallowing, followed by various complications. We performed a retrospective study for ten years at the Clinical Hospital of Obstetrics and Gynecology "Dr. I.A. Sbârcea" in Braşov. There were registered 42751 newborns, of which 23 have been diagnosed with esophageal atresia. We found that those infants with an antenatal diagnosis and proper pregnancy care were associated with better outcomes. Factors such as the technical advances in ultrasonography and appropriate routine prenatal follow-up during pregnancy have a potentially significant influence on the prognosis of these patients. [ABSTRACT FROM AUTHOR]

Fetal brain tumors are rare. Teratoma is the most common histological type. Their evolution is often fatal. Ultrasound and magnetic resonance imaging allows for early antenatal diagnosis. However, definitive diagnosis is based on histologic examination. Placental metastases are rare and complicate more often the course of malignant melanomas, hemopathies, breast and bronchial cancers. In pregnant women who have recently had a cancer, anatomopathologic examination of the placenta should be requested to detect tumor invasion. Similarly, neonatal assessment and extended pediatric follow-up are required. The establishment of registries collecting all cancer cases diagnosed among pregnant woman is essential for a better understanding of the epidemiology of these cancers as well as of maternal and paediatric prognostic factors. We here report a case of fetal brain tumor in a woman with recurrent ovarian cancer. [ABSTRACT FROM AUTHOR]

Dandy-Walker malformation is a rare congenital anomaly of the brain that mainly affects the cerebellum region. It is characterised by abnormal dilatation of the fourth ventricle of the brain and partial or total absence of the cerebellar vermis. This malformation may also be accompanied by other anomalies of the brain. Ante-natal diagnosis is becoming increasingly frequent given the performance of medical imaging, in particular ante-natal ultrasound and MRI. The object of this article is to clarify the possible causes of rare cystic malformations of the posterior cerebral fossa, which are very rare congenital malformations. a 30 year old patient, second gesture, mother of a live child by caesarean section, referred to us at 32 weeks of amenorrhoea at the university hospital centre for management of a cystic malformation of the posterior cerebral malformation detected on 2nd trimester ultrasound and confirmed as a Dandy Walker malformation on 3rd trimester fetal MRI. The Dandy-Walker malformation can be described on prenatal MRI as vermian hypoplasia and can be detected as early as the 1st trimester of pregnancy using ultrasound, This cystic malformation poses a problem of differential diagnosis with other pathologies which also result in a cystic image of the posterior cerebral fossa, in particular Black's pouch cyst, arachnoid cyst and mega magna cistern, which requires careful interpretation of cerebral MRI of the foetus. Imaging techniques play a fundamental role in diagnosis. Prenatal ultrasound and MRI can reveal a Dandy-Walker malformation as early as the 2nd month of pregnancy. MRI is ideal for differentiating differential diagnoses. • Cystic malformations of the posterior cerebral spine pose a screening problem for antenatal diagnosis. • The dandy walker malformation is a rare malformation that must be distinguished from other malformations. • The prognosis after antenatal screening also depends on the family's decision to maintain or terminate the pregnancy. • Medical imaging is increasingly allowing good radiological exploration of the foetus. [ABSTRACT FROM AUTHOR]

The simultaneous occurrence of an atrioventricular canal defect (AVCD) and Ebstein’s anomaly is extremely rare, occurring in less than 0.5% of all patients with AVCD. Only 22 cases are described in the literature. This patient’s antenatal diagnosis of both Ebstein’s anomaly and partial AVCD was made at 25 weeks of gestation. The delivery was organized in a tertiary center. The initial neonatal course was difficult but with adequate treatment, a rapid improvement allowed for a gap of almost 2 years before a complete surgical repair including a cone tricuspid plasty. To our knowledge, this is the first case of antenatal diagnosis, with carefully tailored delivery, neonatal care and subsequent follow-up before indication for successful surgery.

Being a planar structure, fetal diagnosis of aorto-pulmonary window poses great challenge. A few echocardiographic signs can help to clinch the diagnosis.

Abstract Background Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far. Case presentation We report the case of a boy with fetal bilateral nephromegaly and hyperechogenic kidneys, along with neonatal acute kidney injury; no etiology could be found in the first months of life. At 3 months of life, he presented with tachypnea and altered mental status, which lead to the diagnosis of PA. The renal ultrasound at 8 months of life, after a symptomatic treatment of PA had been initiated, showed a regression of the renal abnormalities. Conclusion This case describes PA as a novel cause of large and hyperechogenic kidneys in the antenatal period. It suggests that, when confronted to fetal nephromegaly, hyperechogenic kidneys and risk factors of metabolic disease such as consanguineous parents, PA should be considered, and a prenatal test should be proposed.

Perirenal lymphatic malformation (LM) is a rare benign lesion that often simulate as perinephric collection or parapelvic cyst. A neonate, antenatally diagnosed with a renal cystic mass, was investigated to have a perirenal LM on postnatal ultrasonography and MRI. The LM was excised successfully. Histopathologic examination of the specimen confirmed the diagnosis. Perirenal LM should be evoked for a renal cystic mass diagnosed prenatally. Knowledge of this entity can prevent an unnecessary nephrectomy.

The TRAPS (Twin Reversed Arterial Perfusion Sequence) is an uncommon and specific complication of monozygotic genetic pregnancies. This anomaly is secondary to the presence of abnormal vascular connections between the twins, so it is a major form of the twin-to-twin transfusion syndrome. We present here a case of an acardiac-acephalic twin diagnosed during pregnancy at 27 weeks of amenorrhea. Thanks to advances in ultrasound, the antenatal diagnosis of the TRAP syndrome is made possible in the first trimester. This condition is associated with a high mortality rate in healthy twins caused by anemia and heart failure. Therapeutic resources involve in utero management such as the interruption of vascular anastomosis between the twins to perform a selective feticide.

Congenital teratoma is a very rare tumor, affecting the neck in 3% of all cases.The diagnosis should be performed in antenatal by ultrasonography or magnetic resonance imaging (MRI). The risk of neonatal respiratory distress is very important. We present a rare case of immature cervical teratoma revealed by antenatal ultrasonography with total excision and cure. A 22-year-old woman, G1P1, who came from a rural area, was admitted to our obstetrics department for delivery. She had no document of pregnancy follow-up. The ultrasound exam showing a live fetus at term with voluminous cervical mass. After consultation with the neonatal resuscitation team, a caesarean section was performed. The infant underwent surgical excision at 25 days of life with complete healing. The histological report was confirmed the diagnosis of immature cervical teratoma free of malignant elements. A multidisciplinary management is necessary to avoid complications related to compression, but also to reduce the risk of cancer.

Background: Fat-suppressed (FS) T2-weighed turbo spin-echo (TSE) sequence was used to detect the signal of the thymus and the characteristics of the thymus location, measure the two-dimensional diameter at specific levels, and analyze the association with gestational weeks., Methods: This study involved 51 fetal specimens. Post-mortem MRI scanning was implemented with a 3.0-T MRI system. T2-weighted imaging (T2WI) features of the thymus in fetuses were quantitatively investigated with DICOM images. Statistical analysis was done with the Chi-Square test, oneway ANOVA, and Student's t-test., Results: There was heterogeneity in the morphology of the fetal thymus. FS T2-weighted TSE sequence clearly exhibited the microstructure of the fetal thymus. The thymus extensively showed a lobulated appearance. The central signal is much higher than the peripheral signal in each lobule. In addition, FS-T2WI images can clearly show the interlobular septum, which is filled with fluid and presents a linear high signal. The signal intensity of fetal thymus increased with gestational weeks. The diameter measured in a particular plane was highly correlated with gestational week., Conclusion: FS T2-weighted TSE sequence provides high-resolution images of the fetal thymus. The change in signal intensity, location, and two-dimensional diameter in a specific plane can be used as a research direction for the fetal thymus., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Purpose: To summarize our experience in the management of congenital anomalies in the kidney and urinary tract (CAKUT) in adults., Materials and Methods: We conducted a retrospective chart review of all adult patients who underwent primary surgical intervention for CAKUT between 1998 and 2021., Results: The study included 102 patients with a median age of 25 (interquartile range, 23-36.5). Of these, 85 (83.3%) patients reported normal prenatal ultrasound, and the remaining 17 (16.7%) patients were diagnosed with antenatal hydronephrosis. These patients were followed-up conservatively postnatally and were discharged from follow-up because of the absence of indications for surgical intervention or because they decided to leave medical care. All studied adult patients presented with the following pathologies: 67 ureteropelvic junction obstructions, 14 ectopic ureters, 9 ureteroceles, and 6 primary obstructive megaureters, and the remaining 6 patients were diagnosed with vesicoureteral reflux. Forty-three percent of the patients had poorly functioning moieties associated with ectopic ureters or ureteroceles. Notably, 67% of patients underwent pyeloplasty, 9% underwent endoscopic puncture of ureterocele, 3% underwent ureteral reimplantation, 6% underwent endoscopic correction of reflux, 7% underwent partial nephrectomy of non-functioning moiety, and the remaining 9% underwent robotic-assisted laparoscopic ureteroureterostomy. The median follow-up period after surgery was 33 months (interquartile range, 12-54). Post-operative complications occurred in 5 patients (Clavien-Dindo 1-2)., Conclusions: Patients with CAKUT present clinical symptoms later in life. Parents of patients diagnosed during fetal screening and treated conservatively should be aware of this possibility, and children should be appropriately counseled when they enter adolescence. Similar surgical skills and operative techniques used in the pediatric population may be applied to adults., Competing Interests: All authors have submitted the ICMJE uniform disclosure form. The authors declare no conflicts of interest., (Copyright © 2023 The Authors. Published by Wolters Kluwer Health, Inc.)

Background: Visible congenital malformations (VCMs) are one of the principal causes of disability in the world. Prenatal diagnosis is a paramount mandatory integral part of the follow up of pregnancies with VCM of the foetus in high-income setting. We aimed to determine the incidence of prenatal diagnosis of VCMs in a low-resource setting with no policy on antenatal diagnosis of VCMs.Methods: We carried out a prospective cohort multicenter study from July 2015 to June 2016 in 10 randomly selected maternity units of Yaoundé, Cameroon. We enrolled all newborns with one or more detectable VCMs at birth. Variables studied were findings of the 1st, 2nd and 3rd trimesters' obstetrical ultrasound scans, in order to establish a concordance between the clinical and sonographic diagnoses of the VCMs and determine the frequency of antenatal diagnosis as well as the rate of medical abortion.Results: The incidence of VCMs was 9 per 1000 births. The main VCMs were malformations of the skeletal (4.3%), neurological (2.2%), and gastrointestinal (2.1%) systems. The sex ratio was 1.1. Among the malformed newborns, 37% were premature and in 18.5% the diagnosis of a VCM was confirmed after a therapeutic termination of pregnancy (following suggestive findings of a malformation on antenatal ultrasound scan). The prevalence of sonographic antenatal diagnosis of VCMs was 21%. Hydrocephalus was the most diagnosed VCM antenatally. The mean gestational age at which antenatal clinics were initiated was 15 ± 5 weeks. The mean number of obstetrical ultrasound scans performed was two.Conclusion: The incidence of VCMs in our resource-limited setting is high and antenatal diagnosis rates are very low. Overall, our study emphasizes on the importance antenatal diagnosis of VCMs, often overlooked in our setting. The goal being to reduce maternal and foetal morbidity in a setting already burdened by a high maternal and neonatal mortality. [ABSTRACT FROM AUTHOR]