EP07.16: Rapid prenatal diagnosis of fetal short femur using trio clinical exome sequencing

The study is to assess the utility of trio clinical exome sequencing as an extended detection strategy in prenatal diagnosis of fetal short femur. A total of 43 highly selected pregnancies with fetal short FL were collected in one year. Fetal samples and parental bloods were used for trio clinical exome sequencing detection. Trio clinical exome sequencing achieved a molecular diagnostic rate of 60.4% in our cohort, with a 2 weeks' turnaround time in prenatal diagnosis. Approximately 39.6% of fetuses with negative molecular analysis was identified as having satisfactory pregnancy outcomes. Incidental molecular findings in two fetuses with minor or isolated short femur length helped the parents to timely avoid the adverse pregnancy outcomes. Our study demonstrated that trio clinical exome sequencing could provide a comprehensive detection strategy in fetuses with short femur length, as it achieved significant management implication in both positive and negative cases, aiding decision making for parents in an acceptable turnaround time. The information and experiences provided in this study contributed to genetic counselling during the prenatal diagnosis of fetal short femur length. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.