Prospective Study for Diagnosis Utility of Array-CGH Screening in Case of Non Syndromic Congenital Heart Defect in Prenatal Diagnosis (CAPA)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 78
- 试验地点
- 2
- 主要终点
- Identification a significant rate of chromosomal imbalances on ACPA > 8%
研究概览
简要总结
Comparative genomic hybridization (CGH)-based microarrays are now often used during pregnancy in case of fetal polymalformation in order to assess significant genomic alterations. However, it is not clear whether array-CGH provide a diagnostic utility in case of isolated congenital heart defect.
This is the first prospective study aiming at defining the right chromosomal screening when a fetal isolated congenital heart defect is identified by ultrasound.
详细描述
Comparative genomic hybridization (CGH)-based microarrays are now often used during pregnancy in case of fetal polymalformation in order to assess significant genomic alterations. Up to now, in case of isolated heart defect, only fetal karyotype with FISH 22q11 was usually offered. However, micro deletions or duplications could not be identified elsewhere throughout the genome. Then, in case of fetal chromosomal micro-rearrangements, parents could not be fully informed for global and neurodevelopmental prognosis. To our knowledge, clear-cut study, to assess whether array-CGH provide a diagnostic utility in case of isolated congenital heart defect, don't exist.
After informed consent, 80 women will be enrolled during two years in 2 official prenatal diagnosis centers in France. This survey is assumed to identify at least 8% of unbalanced chromosomal abnormalities. This will be also compared with 22q11 rearrangements rate.
This is the first prospective study aiming at defining the right chromosomal screening when a fetal isolated congenital heart defect is identified by ultrasound.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Pregnant woman over 18-year-old ;
- •Ongoing health insurance ;
- •Informed consent ;
- •Prenatal samples from amniotic fluid ;
- •Isolated congenital heart defect.
排除标准
- •Transposition of great arteries ;
- •Amniotic fluid sample refusal.
结局指标
主要结局
Identification a significant rate of chromosomal imbalances on ACPA > 8%
时间窗: J0
次要结局
- To compare rates of abnormalities identified by karyotype FISH 22q11 versus ACPA(J0)
- To compare cardiac ultrasound prenatal data with postnatal data including pathological data (if TOP)(J0)
- To compare the nature of chromosomal imbalances with the type of MCC(J0)