Child outcomes after prenatal exome testing prompted by ultrasound findings
Official title: Outcomes of Children in Whom a Prenatal Exome Was Performed Based on Ultrasound Findings
Run by University Hospital, Strasbourg, France · NCT07342933 · Data updated 2026-11-12
This project tries to see if prenatal exome sequencing after amniocentesis for ultrasound concerns predicts health outcomes for children up to age four.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 0 Years to 3 Years |
| Sex | All |
| Enrollment | 70 (estimated) |
| Sponsor | University Hospital, Strasbourg, France Academic / other |
| Locations | 1 site (Strasbourg) |
| Status | Recruiting |
| Started | July 22, 2025 |
| Main results expected | July 2027 |
| Study ends | July 22, 2027 |
| Registry record updated | January 15, 2026 |
| Trial ID | NCT07342933 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Children under four whose pregnancies included amniocentesis and prenatal exome sequencing performed at Strasbourg University Hospitals between November 2021 and September 2025.
✕Probably not a fit
Families whose exome sequencing was done elsewhere, who lack prenatal ultrasound records, or whose child is older than four are not eligible and would not benefit from this study's conclusions.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is a retrospective review of children under four whose pregnancies included amniocentesis and prenatal exome sequencing at Strasbourg University Hospitals between November 2021 and September 2025. Exome sequencing was offered when ultrasound showed at least two findings and standard tests (FISH and aCGH/ACPA) were negative. Investigators will compare prenatal ultrasound and genetic results with postnatal clinical follow-up to determine how often exome findings explain prenatal anomalies and what outcomes occur after birth. The work aims to clarify the sensitivity of prenatal exome testing and its value for parental counseling.
Why it matters
Potential benefit: If successful, the results could help doctors and parents understand how reassuring a negative prenatal exome result is and improve prenatal counseling.
How similar studies have gone: Previous research has shown prenatal exome sequencing can identify genetic causes in a meaningful fraction of fetuses with ultrasound anomalies after negative conventional testing, but negative exome results do not exclude all genetic conditions.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
-
Service de Gynécologique et d'Obstétrique - CHU de Strasbourg - France
Strasbourg, France Recruiting
Study contacts
- Study coordinator: Chris MINELLA, MD
- Email: chris.minella@chru-strasbourg.fr
- Phone: 33 3 88 12 74 95
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.