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Genetics

Poster Session 4

(1005) The clinical experience of prenatal whole genome sequencing in a maternal fetal medicine practice

Wednesday, February 14, 2024
1:00 PM – 2:30 PM  
Location: Prince George's Exhibit Hall CDE, Lower Atrium Level
Objective: Prenatal whole genome sequencing (WGS) recently became commercially available for patients undergoing CVS and amniocentesis procedures. We sought to characterize the clinical experience and evaluate the results of patients who elected to pursue prenatal WGS.

Study Design:

Pregnant patients undergoing diagnostic procedures from April 2022 to June 2023 were retrospectively studied. All patients underwent genetic counseling to discuss benefits and limitations of diagnostic testing and to obtain written consent. Inclusion criteria for WGS: patients undergoing CVS/amniocentesis with negative NIPT and at least one structural abnormality and/or a first trimester nuchal translucency measurement ≥ 3mm.

Results: A total of 149 CVS/amniocentesis specimens were obtained. Of these, 31 patients elected to pursue WGS. Of the 31 cases, 6 (19%) were found to have a pathogenic or likely pathogenic mutation, 4/31 (13%) were found to have a variant of uncertain significance (VUS) related to clinical phenotype, 2/31 (6%) were found to have an abnormality that would have been detected through standard karyotype and/or chromosomal microarray (one case with 47,XXY and one with a 862 kb deletion within the region of 16p11.2) and 19/31 (62%) were negative.

Conclusion:

Thirty-two percent of samples yielded a pathogenic/likely pathogenic variant or a VUS in a gene related to a clinical phenotype that would have been missed on chromosomal microarray analysis. These results suggest that WGS should be offered to patients undergoing diagnostic procedures when there is an anomaly noted on fetal ultrasound.