Amniocentesis Affecting Fetus
Conditions
Keywords
Amniocentesis Affecting Fetus, Prenatal Exome, Ultrasound Findings
Brief summary
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?
Interventions
None listed
Sponsors
University Hospital, Strasbourg, France
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 3 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Psychomotor development of the children | Up to 24 months | Psychomotor development of the children based on items from the health record: The items in the child's health record are used to: * monitor the child's normal development, * detect any potential delays early, and * reassure parents or refer them to a professional if needed. Example: If a child is not yet walking at 18 months: * this is not necessarily serious, * but it may lead the doctor to suggest monitoring or exercises. |
Countries
France
Contacts
Primary ContactChris MINELLA, MD
Outcome results
None listed