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

University Hospital, Strasbourg, France70 enrolled

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?

Study Type

OBSERVATIONAL

Enrollment

Conditions

Amniocentesis Affecting Fetus

Eligibility

Sex: ALLMin age: 0 YearsMax age: 3 Years

Medical Language ↔ Plain English

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.

Locations (1)

Service de Gynécologique et d'Obstétrique - CHU de Strasbourg - France

Outcomes

Primary Outcomes

Psychomotor development of the children

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.

Time frame: Up to 24 months