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Noninvasive prenatal screening (NIPS) tests for fetal chromosomal anomalies through maternal blood sampling. It is becoming widely available and standard of care for pregnant women in many countries. It is performed in the first trimester of pregnancy, usually between 9 and 12 weeks. Fragments of fetal cell-free deoxyribonucleic acid (DNA) floating in maternal plasma are detected and analyzed by this test to assess for chromosomal aberrations. Similarly, maternal tumor-derived cell-free DNA (ctDNA) released from the tumor cells also circulates in the plasma. Hence, the presence of genomic anomalies originating from maternal tumor-derived DNA may be detected on the NIPS-based fetal risk assessment in pregnant patients. Presence of multiple aneuploidies or autosomal monosomies are the most commonly reported NIPS abnormalities detected with occult maternal malignancies. When such results are received, the search for an occult maternal malignancy begins, in which imaging plays a crucial role. The most commonly detected malignancies via NIPS are leukemia, lymphoma, breast and colon cancers. Ultrasound is a reasonable radiation-free modality for imaging during pregnancy, specially when there are localizing symptoms or findings, such as palpable lumps. While there are no consensus guidelines on the imaging evaluation for these patients, when there are no localizing symptoms or clinically palpable findings, whole body MRI is recommended as the radiation-free modality of choice to search for an occult malignancy. Based on clinical symptoms, practice patterns, and available resources, breast ultrasound, chest radiographs, and targeted ultrasound evaluations can also be performed initially or as a follow-up for MRI findings. CT is reserved for exceptional circumstances due to its higher radiation dose. This article intends to increase awareness of this rare but stressful clinical scenario and guide imaging evaluation for occult malignancy detected via NIPS during pregnancy. Graphical abstract: [Figure not available: see fulltext.].

Payer coverage for Exome Sequencing (ES) is becoming commonplace (albeit in some cases with prior authorization restrictions), coverage for Genome Sequencing (GS) is rare, with most payers considering it as investigational and not medically necessary. Previous studies had identified several concerns and challenges from the payer perspective.The objective of this study is to conduct a targeted literature review of the evidence describing the cost and clinical utility of GS and ES compared to standard of care (SoC) testing in children ≤18 years with suspected genetic disease.We conducted a systematic literature review to identify evidence for cost, diagnostic utility and clinical utility between SoC, ES, and GS in children (0-18 years) with suspected genetic diseases. We also identified list prices for individual tests from Concert Genetics. Descriptive analyses were conducted for cost and comparative effectiveness data.We identified five studies on costs of ES and GS, as well as data from concert genetics, and 62 studies of comparative effectiveness of GS or ES in pediatric patients There is limited evidence of GS over ES in the ability to effect change in management. Available evidence suggests that rapid over standard GS or ES is of greater benefit in the NICU/PICU setting vs. outpatient setting. Future clinical studies must include both diagnostic yield and clinical management outcomes in order to provide stakeholders with the necessary evidence to support decision-making on implementation and coverage.

As the year 2020 ends, a year of exceptional and earth-shattering changes related to a growing global pandemic, economic hardships, and heartbreaking social injustices, a focus on increasing inclus...

Our multi-institutional university consortium implemented a gastroschisis pathway in 2015 to standardize and improve care by promoting avoidance of routine intubation and paralysis during silo placement, expeditious abdominal wall closure, discontinuation of antibiotics/narcotics within 48 h of closure, and early initiation/advancement of feeds.Adherence to the gastroschisis pathway was prospectively monitored. Outcomes for the contemporary cohort (2015-2018) were compared with a historical cohort (2007-2012).Good adherence to the pathway was observed for 70 cases of inborn uncomplicated gastroschisis. The contemporary cohort had significantly lower median mechanical ventilator days (2 versus 5; p 0.01) and antibiotic days (5.5 versus 9; p 0.01) as well as earlier days to initiation of feeds (12 versus 15; p 0.01). However, no differences were observed in length of stay (28 versus 29 days; p = 0.70). A skin closure technique was performed in 66% of the patients, of which 46% were performed at bedside without intubation, the assistance of an operating-room team, or general anesthesia.In this study, adherence to a clinical pathway for gastroschisis across different facilities was feasible and led to reduction in exposure to mechanical ventilation and antibiotics. The adoption of a bedside skin closure technique appears to facilitate compliance with the pathway.Level II/III TYPE OF STUDY: Prospective comparative study with historical cohort.

The ARID1A gene is an infrequent cause of Coffin-Siris syndrome (CSS) and has been associated with severe to profound developmental delays and hypotonia in addition to characteristic craniofacial and digital findings. We present three fetuses and a male neonate with ventriculomegaly/hydrocephalus, absence of the corpus callosum (ACC), cerebellar hypoplasia, retinal dysplasia, lung lobulation defects, renal dysplasia, imperforate or anteriorly placed anus, thymus hypoplasia and a single umbilical artery. Facial anomalies included downslanting palpebral fissures, wide-spaced eyes, low-set and posteriorly rotated ears, a small jaw, widely spaced nipples and hypoplastic nails. All fetuses had heterozygous variants predicting premature protein truncation in ARID1A (c.4886dup:p.Val1630Cysfs*18; c.4860dup:p.Pro1621Thrfs*27; and c.175G>T:p.Glu59*) and the baby’s microarray demonstrated mosaicism for a deletion at chromosome 1p36.11 (arr[GRCh37] 1p36.11 (26,797,508_27,052,080)×1~2), that contained the first exon of ARID1A. Although malformations, in particular ACC, have been described with CSS caused by pathogenic variants in ARID1A, prenatal presentations associated with this gene are rare. Retinal dysplasia, lung lobulation defects and absent thymus were novel findings in association with ARID1A variants. Studies in cancer have demonstrated that pathogenic ARID1A variants hamper nuclear import of the protein and/or affect interaction with the subunits of SWI/SNF complex, resulting in dysregulation of the PI3K/AKT pathway and perturbed PTEN and PIKC3A signaling. As haploinsufficiency for PTEN and PIKC3A can be associated with ventriculomegaly/hydrocephalus, aberrant expression of these genes is a putative mechanism for the brain malformations demonstrated in patients with ARID1A variants.

To characterize trends of an influenza diagnosis at delivery hospitalization and its association with severe maternal morbidity.We conducted a repeated cross-sectional analysis of delivery hospitalizations using the Nationwide Inpatient Sample from 2000 to 2018. We assessed the association between an influenza diagnosis at delivery hospitalization and severe maternal morbidity excluding transfusion per Centers for Disease Control and Prevention criteria. Secondary outcomes included maternal death and morbidity measures associated with influenza (mechanical intubation and ventilation, sepsis and shock, and acute respiratory distress syndrome [ARDS]) and obstetric complications (preterm birth and hypertensive disorders of pregnancy). We assessed trends of severe maternal morbidity by annual influenza season and the association between influenza and severe maternal morbidity using multivariable log-linear regression, adjusting for demographic, clinical, and hospital characteristics.Of 74.7 million delivery hospitalizations, 23 per 10,000 were complicated by an influenza diagnosis. The rate of severe maternal morbidity was higher with an influenza diagnosis compared with those without influenza (86-410 cases vs 53-70 cases/10,000 delivery hospitalizations). Women with an influenza diagnosis at delivery hospitalization were at an increased risk of severe maternal morbidity compared with those without influenza (2.3 vs 0.7%; adjusted risk ratio 2.24, 95% CI 2.17-2.31). This association held for maternal death, mechanical intubation, sepsis and shock, and ARDS-as well as obstetric complications, including preterm birth and hypertensive disorders of pregnancy.Pregnant women with influenza are at increased risk of severe maternal morbidity, as well as influenza-related maternal and obstetric complications. These results emphasize the importance of primary prevention and recognition of influenza infection during pregnancy to reduce downstream maternal morbidity and mortality.

OBJECTIVES: To perform a multicenter study to assess growth failure in hospitalized infants with gastroschisis. STUDY DESIGN: This study included neonates with gastroschisis within sites in the University of California Fetal Consortium (UCFC). The study’s primary outcome was growth failure at hospital discharge, defined as a weight or length z-score decrease > 0.8 from birth. Regression analysis was performed to assess changes in z-scores over time. RESULTS: Among 125 infants with gastroschisis, the median gestational age was 37 weeks (IQR 35–37). Length of stay was 32 days (23–60); 55% developed weight or length growth failure at discharge (28% had weight growth failure, 42% had length growth failure, and 15% had both weight and length growth failure). Weight and length z-scores at 14 d, 30 d, and discharge were less than birth (p

Background: This study was the final phase of a participatory design (PD) project aimed at developing professionally led online art therapy groups for young adults with cancer. Methods: We invited seven professionals with a range of relevant expertise to take part in a PD process that emphasized hands-on creative interaction. Each participant experienced one or more online art therapy sessions and provided feedback that we analyzed with qualitative thematic analysis. Results: The analysis yielded six inter-related themes representing three types of experience (comfort, sense of connectedness and expression) and three types of therapeutic action that supported these experiences (facilitation, group support and dialog about the art). Conclusions: The results assured us that our newly developed mode of psychosocial support was ready for online delivery to young adults with cancer. The results provided insight into therapeutic processes in online art therapy groups, especially with regard to collectiv...

Black bear (Ursus americanus) feeding on tree cambium is a forest management concern in the Pacific Northwest. Predicting the gender of bears foraging on cambium could provide valuable insight for damage management by focusing management on depredating bears. Equations were generated from dental impressions taken from live bears captured in western Washington State to classify the gender of bears that left incisor grooves on freshly damaged trees. Males had wider primary, I1, ( 0.55 cm ±0.01, P=0.04) and secondary, I2, upper incisors (0.67 cm ±0.01, P=0.001) than female bears (0.49 cm ±0.02 and 0.58 cm ±0.01 , respectively). The widths of individual incisor grooves in the cambium of trees in western Washington were measured and compared to dental measurements from live bears, revealing that females damaged 90% (88 of 98 trees with I1 impressions; 66 of 73 trees with I2 impressions) of trees sampled during 1996. Damage management programs should target female bears rather than indiscriminately applied to all bear age-gender classes.

Towards the end of an Alberta literacy research in practice project, a participant commented: ... research--I assumed I couldn't understand a word they said. Now I know I can talk about it, ... I have confidence in how I understand it. I'm not afraid of research; I used to be afraid, but now I am interested and excited. Like others in the project, this participant previously viewed research as a world apart from her daily work in a literacy program. By reading research reports, talking with others about research, and conducting research herself, she began to embrace the possibilities of research in practice. Encouraging and supporting research in practice were core aims of the Alberta-based Participatory Approaches in Adult Literacy Education/Research in Practice (PAALE/RiP) Project. Through this project, six literacy educators, including me, initiated participatory approaches projects with groups of adult learners and conducted research about the projects. We learned about participatory approaches, about our practices and about ourselves. Seeds and Roots The Alberta research in practice projects came about through a series of opportunities. My interest in the concept of research in practice was seeded at a National Literacy Secretariat conversation about literacy research policy, held in Ottawa in 1996. I was inspired by discussions about supporting literacy practitioners and learners to conduct research themselves. This interest was shared by Yvon Laberge, an Edmonton-based literacy researcher who also attended the policy conversation. Yvon and I met to imagine ways to encourage practitioner research in Alberta. Through consultation with colleagues in other provinces, we found an interest in research in practice and identified barriers to practitioners engaging in research. This led to a fall 1997 seminar in Edmonton where 18 practitioners and researchers from across Canada shared ideas and set some directions for literacy research in practice.(2) The seminar was also an opportunity to develop relationships, an important step in building a research in practice network. The PAALE/RiP Project The Learning Centre and the University of Alberta Faculty of Education initiated the PAALE/RiP Project in 1998. The project built on participatory experiences at the Learning Centre and responded to interests in participatory approaches among Alberta literacy educators and learners. It also incorporated ideas from the previous research in practice activities by supporting practitioners to engage in research. The six who participated in the project were from urban and rural communities across Alberta. Grace Malicky, who was then Associate Dean of Research at the University of Alberta Faculty of Education, agreed to be a research facilitator for the project. Grace had a long-standing interest in adult literacy and a commitment to supporting research and practice. The university contributed Grace's time and she arranged for other university contributions, including provision of an online graduate level course that we co-facilitated. The PAALE/RiP project participants enrolled in the course, along with four graduate students. The course included a set of modules about participatory approaches and another set about research. Course discussion and communication was carried out through a computer-based conferencing system and two face-to-face meetings. By the end of the course, PAALE/RiP project members had initiated participatory approaches projects and related research with groups of adult learners. Research topics included using themes to enhance cultural knowledge, benefits of learner participation, problem solving in a group, sharing facilitating roles with learners and sharing power. One study, initiated on the topic of needs assessment, led to learning why adults don't enroll in programs. Research approaches, which varied according to topics and contexts, included practitioner research, action research and participatory action research (Malicky, 2000). …