Clinical Research Directory

Outcomes of Children in Whom a Prenatal Exome Was Performed Based on Ultrasound Findings

Sponsor: University Hospital, Strasbourg, France

Summary

Amniocentesis is a test offered to couples based on ultrasound findings during pregnancy. Currently, genetic analysis using FISH and ACPA is routinely performed. For the past four years, additional exome sequencing has been offered after two ultrasound findings, if FISH and ACPA are negative. In this study, investigators aim to review the results of this exome sequencing analysis, examine the outcomes obtained, and study the outcomes of the children after birth. Can parents be completely reassured when the exome sequencing is negative, or does this indicate that investigators are not yet sufficiently sensitive in their genetic analysis?

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