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The 'certainty effect' (1,2) is a notable violation of expected utility theory by decision makers (3-6). It shows that people's tendency to select the safer of two prospects increases when [...]

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. Key points: What's already known about this topic? Previous studies demonstrated that exome sequencing contribute a substantial diagnostic information in pregnancies when the fetus present major structural defects and anomalies What does this study add? This study centers around the inclusion of low risk pregnancies; those with minor ultrasound findings and those with normal pregnancy surveillance. Our findings show that exome sequencing among low risk pregnancies contributed significant and important critical diagnostic information [ABSTRACT FROM AUTHOR]