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

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

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?

Inclusion Criteria:

• Child under 4 years of age
• Exome sequencing performed at the Strasbourg University Hospitals (HUS) following amniocentesis during pregnancy between November 2021 and September 2025.

Exclusion Criteria:

• Refusal to participate in the study
• Exome sequencing not performed at the Strasbourg University Hospital.
• Lack of prenatal ultrasound information.