267 Multiple fetal anomalies are associated with actionable postnatal genome sequencing results

نویسندگان

چکیده

Prenatal whole exome sequencing (WES) and genome (WGS) have not been adopted into routine obstetrical practice due to high cost suspected low diagnostic yield. However, the actual yield of these methods in pregnancies with specific prenatal findings is known. The goal this study determine whether types complications are associated actionable postnatal WES/WGS results. This a case control comparing critically ill neonates NSIGHT2 who had versus negative We excluded without available ultrasound reports. reviewed reports for abnormal findings. calculated odds ratio used Fisher’s exact test compare between two groups. 213 were sequenced study. 80 those ultrasounds. Of these, 21 an finding from sequencing: 7 WES 14 WGS. 59 results: 32 27 66.7% results anomalies on fetal ultrasound, while 55.9% anomalies. Among anomalies, 4.5 times more likely multiple 6.7 extremities compared Fetal growth restriction was present 19% 6.8% In our population, statistically extremities. These suggest that may benefit WES/WGS. Larger studies needed utility introducing clinical practice.

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ژورنال

عنوان ژورنال: American Journal of Obstetrics and Gynecology

سال: 2021

ISSN: ['1097-6868', '0002-9378', '1085-8709']

DOI: https://doi.org/10.1016/j.ajog.2020.12.289