Outcomes of Children in Whom a Prenatal Exome Was Performed Based on Ultrasound Findings
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Amniocentesis Affecting Fetus. Basic parameters: 0 years — 3 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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?
Primary outcome measures
- Psychomotor development of the children [Time frame: Up to 24 months]
Eligibility 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Service de Gynécologique et d'Obstétrique - CHU de Strasbourg - France — Strasbourg
Identifiers
NCT: NCT07342933 · 9815