TY - JOUR
T1 - High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
AU - Vaknin, Noam
AU - Azoulay, Noy
AU - Tsur, Erez
AU - Tripolszki, Kornelia
AU - Urzi, Alice
AU - Rolfs, Arndt
AU - Bauer, Peter
AU - Achiron, Reuven
AU - Lipitz, Shlomo
AU - Goldberg, Yael
AU - Berger, Rachel
AU - Shohat, Mordechai
N1 - Publisher Copyright:
© 2021 John Wiley & Sons Ltd.
PY - 2022/5
Y1 - 2022/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85121371277&partnerID=8YFLogxK
U2 - 10.1002/pd.6077
DO - 10.1002/pd.6077
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C2 - 34918830
AN - SCOPUS:85121371277
SN - 0197-3851
VL - 42
SP - 725
EP - 735
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 6
ER -