High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses

Noam Vaknin, Noy Azoulay, Erez Tsur, Kornelia Tripolszki, Alice Urzi, Arndt Rolfs, Peter Bauer, Reuven Achiron, Shlomo Lipitz, Yael Goldberg, Rachel Berger, Mordechai Shohat*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Objective: Data on the value of exome sequencing in fetuses with no structural anomalies are limited, especially in the early stages of pregnancy and in low risk pregnancies. We investigated the yield of targeted clinical prenatal trio exome sequencing (pES) in pregnancies with and without fetal structural anomalies. Methods: We performed pES in 353 pregnancies: Group 1 included 143 pregnancies with high clinical suspicion for a genetic disease: pregnancies with increased nuchal translucency, ultrasound structural defects, intrauterine growth restriction, polyhydramnios, or effusion/nuchal edema. Group 2 included 210 pregnancies with no notable abnormal fetal ultrasound findings. 2a. Low risk pregnancies with minor ultrasound findings, referred to the geneticist due to mildly increased risk for genetic disease (50); and 2b. Normal pregnancy surveillance (160). Results: Overall, 26 (7.36%) fetal analyses had pathogenic (P)/likely pathogenic (LP) variants. In group 1, 20/143 (13.99%) cases had P/LP variants. In group 2, 6/210 (2.86%) cases were found to have P/LP variants [5/50 in (2a) and 1/160 in (2b)]. Conclusion: These results show a high rate of abnormal findings on pES even in apparently normal pregnancies.

Original languageEnglish
Pages (from-to)725-735
Number of pages11
JournalPrenatal Diagnosis
Issue number6
StatePublished - May 2022


FundersFunder number
Sackler School of Medicine, Tel Aviv University
Sackler Faculty of Medicine, Tel-Aviv University


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