Oral Concurrent Session 3 - Ultrasound and Genetics
Oral Concurrent Sessions
Brittany Arditi, MD, MSCR
Clinical Fellow
Columbia University Irving Medical Center
New York, New York, United States
Caitlin D. Baptiste, MD
MFM Fellow
Columbia University Medical Center
New York, New York, United States
Jessica L. Giordano, MS, CGC (she/her/hers)
Associate Director, Women's Genetics Research/Assistant Professor
Columbia University Irving Medical Center
New York, New York, United States
Rachel Herz-Roiphe, MD
Resident physician
Columbia University Medical Center
New York, New York, United States
.jpg "Vaidehi Jobanputra, PhD (she/her/hers) photo")
Vaidehi Jobanputra, PhD (she/her/hers)
Professor
New York Genome Center
New York, New York, United States
Ronald J. Wapner, MD (he/him/his)
Professor of OBGYN; Director of Reproductive Genetics
Columbia University
New York, New York, United States
Genome sequencing (GS) has been demonstrated to be of benefit in the evaluation and management of fetal structural anomalies. However, the management of maternal ancillary findings on trio analysis has not been described. Our objective was to evaluate the frequency and clinical impact of maternal genomic variants identified after fetal GS.
Study Design:
This is a secondary analysis of all patients undergoing prenatal GS between September 2022-November 2023 at a single institution under a research protocol. 420 fetuses (279 anomalous and 141 non-anomalous) were included. GS was performed in a CLIA certified laboratory and results reported to parents. Genome analysis was performed through a proband-focused trio approach: pathogenic and likely pathogenic variants were identified in the fetus and parental inheritance was subsequently determined. All maternally inherited findings were adjudicated by a multidisciplinary team of maternal fetal medicine physicians, laboratory geneticists, and genetic counselors to determine the impact on pregnancy and postpartum care. Pathogenic and likely pathogenic variants in genes with implications for peripartum management were reported to the care providers.
Results:
3.8% (16/420) of patients had a maternally inherited, reportable, autosomal dominant finding. Among patients with a reportable finding, 9/16 (56.25%) were referred to a subspecialist for further management and/or underwent additional workup aimed at identifying and preventing risk for maternal morbidity (Table 1). Familial cascade testing was discussed with all patients and performed in 4/16 (25.0%) families. Only 2/16 (12.5%) of genes reported in our analysis are on the American College of Medical Genetics and Genomics secondary findings list.
Conclusion:
In addition to providing a fetal diagnosis, prenatal sequencing will identify maternal genetic diseases with the potential to cause peripartum maternal morbidity and mortality. Future research is required to understand the clinical impact of these findings and to develop management protocols.
