Purpose: To describe the association between geographic location of residence and use of aneuploidy screening or prenatal genetic counseling and how it is modified by maternal race and ethnicity.
Methods: Retrospective cohort of individuals at a tertiary care center between 2017-2019. County of residence was classified as rural or metropolitan based in US Office of Management and Budget 2019 definitions.
Background: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse.
Objective: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation.
Purpose: To evaluate whether deep prenatal phenotyping of fetal brain abnormalities (FBAs) increases diagnostic yield of trio-exome sequencing (ES) compared with standard phenotyping.
Methods: Retrospective exploratory analysis of a multicenter prenatal ES study. Participants were eligible if an FBA was diagnosed and subsequently found to have a normal microarray.
Background: The COVID-19 pandemic started a period of rapid transition to telehealth in obstetrical care delivery to maintain social distancing and curb the spread of the virus. The use of telehealth, such as telephone and video visits, remote imaging interpretation, and provider-to-provider consultations, increased in the early months of the pandemic to maintain access to prenatal and postpartum care. Although there is considerable literature on the use of telehealth in obstetrical care, there are limited data on widespread telehealth use among different practice types and patient populations during the pandemic and whether these are preferred technologies.
View Article and Find Full Text PDFPurpose: To describe psychological outcomes among people with recurrent anomalous pregnancies pursuing trio-exome sequencing (exome sequencing (ES)) compared to those with one affected.
Methods: We analyzed data from a prospective ES cohort, enrolling patients with major fetal anomaly and normal microarray. Participants completed validated scales before and after ES.
Purpose: To understand motivations for and parental interpretation of results from trio-exome sequencing (ES) for fetal anomalies with a negative standard genetic diagnosis.
Methods: Analysis of an ongoing, prospective prenatal trio-ES study of pregnancies with ultrasound-identified congenital anomalies and lack of a standard genetic diagnosis. After determination of pregnancy disposition, participants completed questionnaires and a semi-structured interview pre- and post-sequencing.
Objective: To assess the impact of a web-based decision aid on patient-centered decision making outcomes among women considering a trial of labor after cesarean (TOLAC) versus planned repeat cesarean delivery.
Methods: The Birth Decision Aid Study (B-READY) was a quasi-experimental pre-post study of two sequential cohorts. From June 18, 2018 to July 31, 2019, 50 women were enrolled in routine care, followed by 50 women who were enrolled in the decision aid group.
Purpose: To evaluate associations between prenatal trio exome sequencing (trio-ES) and psychological outcomes among women with an anomalous pregnancy.
Methods: Trio-ES study enrolling patients with major fetal anomaly and normal microarray. Women completed self-reported measures and free response interviews at two timepoints: pre- (1) and post- (2) sequencing.
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20% of all congenital malformations occurring in one in 500 live births. Worldwide, CAKUT are responsible for 40% to 50% of pediatric and 7% of adult end-stage renal disease. Pathogenic variants in genes causing CAKUT include monogenic diseases such as polycystic kidney disease and ciliopathies, as well as syndromes that include isolated kidney disease in conjunction with other abnormalities.
View Article and Find Full Text PDFDisparities in women's reproductive health outcomes are persistent and prevalent. Cultural competency education of trainees is central to reducing patient-, system-, and practitioner-level factors that promote disparate health outcomes. Such issues include health literacy, access to health care, and unconscious bias.
View Article and Find Full Text PDFPreterm labor with intact membranes is a major cause of spontaneous preterm birth (sPTB). To prevent sPTB a clear understanding is needed of the hormonal interactions that initiate labor. The steroid hormone progesterone acting via its nuclear progesterone receptors (PRs) in uterine cells is essential for the establishment and maintenance of pregnancy and disruption of PR signaling (i.
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