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

Recruiting now

Conditions studied: Amniocentesis Affecting Fetus

In brief

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?

Key facts

Study ID

NCT07342933

Run by

University Hospital, Strasbourg, France

People needed

70

Starts

2025-07-22

Expected to finish

2027-07-22

Last updated by the study team

2026-01-15

Who can join

Age: any, up to 3. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

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

Where it is running

• Service de Gynécologique et d'Obstétrique - CHU de Strasbourg - France — Strasbourg, France (enrolling)

Full record on ClinicalTrials.gov

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