Child outcomes after prenatal exome testing prompted by ultrasound findings
Outcomes of Children in Whom a Prenatal Exome Was Performed Based on Ultrasound Findings
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 |
|---|---|
| Enrollment | 70 (estimated) |
| Ages | 0 Years to 3 Years |
| Sex | All |
| Sponsor | University Hospital, Strasbourg, France Academic / other |
| Locations | 1 site (Strasbourg) |
| Trial ID | NCT07342933 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Children under four whose pregnancies included amniocentesis and prenatal exome sequencing performed at Strasbourg University Hospitals between November 2021 and September 2025.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Strasbourg
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.