Outcomes of Children in Whom a Prenatal Exome Was Performed Based on Ultrasound Findings
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 70
- 试验地点
- 1
- 主要终点
- Psychomotor development of the children
研究概览
简要总结
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?
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 0 Years 至 3 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •Refusal to participate in the study
- •Exome sequencing not performed at the Strasbourg University Hospital.
- •Lack of prenatal ultrasound information.
结局指标
主要结局
Psychomotor development of the children
时间窗: 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.
次要结局
未报告次要终点