22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000 to 6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11.2 deletion. Maternal and postnatal neonatal peripheral blood cytogenetic, PCR, and fluorescence in situ hybridization studies were normal, but the placenta was mosaic for 22q11.2 deletion in two of three biopsy sites. This case illustrates both the complexities of pre- and post-test counseling for microdeletion screening and the potential for a discordant positive microdeletion result because of confined placental mosaicism. © 2017 John Wiley & Sons, Ltd.

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Whether SARS-CoV-2 definitively increases the risk of stillbirth is unknown, though studies have suggested possible trends of stillbirth increase during the pandemic. This study of third trimester stillbirth does not identify an increase in stillbirth rates during the pandemic period, however investigation of the placental pathology demonstrated trends towards more vascular placental abnormalities.

Given potential for survival of handicapped individuals with autosomal monosomy for chromosomes 14, 15, 16, 18, 20, 21, and 22, low priority should be given to transfer of embryos apparently monosomic for these chromosomes. Couples electing transfer of monosomic embryos should consider amniocentesis for ongoing pregnancies but should be informed of its limitations.

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Objective The utilization of non‐invasive prenatal testing (NIPT) and chromosomal microarray (CMA) has significantly altered the options for testing following the diagnosis of an increased nuchal translucency (NT). This study defines the rates of utilization of diagnostic testing in the pre‐NIPT, pre‐CMA, and post‐CMA eras. Methods We retrospectively examined NT scans performed in our department from January 2010 to December 2020 and identified all NTs ≥3.0 mm for analysis. We divided our data into three distinct periods (2010–2012, 2013–2016, and 2017–2020) corresponding to our institutional practice shifts in recommending and offering use of NIPT (2013) and CMA (2016), respectively. Results 689 patients with NT ≥ 3.0 mm met inclusion criteria in our study, of which 355 (51.5%) individuals underwent diagnostic testing and 334 (48.5%) did not. There was a significant decline in rates of diagnostic testing with NIPT (2013), which has returned to pre‐NIPT levels with the availability of microarray. Conclusions Since the routine use of CMA (2016), the rates of diagnostic testing for increased NT have returned to pre‐NIPT levels. This study validates data suggesting an initial decline in the rates of diagnostic testing following abnormal NT but suggests that the decline may be reversing in the post‐CMA era due to a rise in rates of chorionic villus sampling.

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Objective The goal of preimplantation genetic testing for monogenic or single gene defects (PGT‐M) is to identify inherited pathogenic variants in the embryo prior to embryo transfer, increasing the likelihood of an unaffected child. Prenatal diagnostic testing is recommended to confirm the results of PGT‐M. The purpose of this study was to characterize the population undergoing PGT‐M over time. Methods This retrospective study examined patients who had a positive pregnancy test after PGT‐M from 2012 to 2019. A query of the internal assisted reproductive technology database and chart review were used. Results One hundred and 42 patients completed IVF cycles for PGT‐M during this time period and progressed past 10 weeks gestation. There were more PGT‐M cycles over time with 46 cycles between 2012 and 2015 and 96 cycles between 2016 and 2019. Patients varied on the decision to pursue prenatal diagnostic testing after PGT‐M. For those with known follow‐up (130/142), 16 patients underwent diagnostic testing (12%) and 114 did not. Conclusion As PGT‐M is increasingly utilized prior to pregnancy, it is important for genetic counselors and OB/GYNs to understand the characteristics and outcomes of the population of patients undergoing PGT‐M, including how to counsel about the residual risk of an affected pregnancy after PGT‐M.