Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Monogenic Diseases
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 18
- 试验地点
- 2
- 主要终点
- Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).
研究概览
简要总结
The purprose of this study is to develop a single test based on circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation for a wide range of monogenic diseases.
详细描述
Context:
Non Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA) is very promising for early diagnosis of monogenic diseases. Such an approach is a safer alternative to invasive methods of prenatal testing (amniocentesis or choriocentesis) which entails a significant risk of miscarriage (0.5%-1%). However, technical issues related to the characteristics of cff-DNA remain, and NIPD techniques require long process development which are specific for a gene and/or a particular mutation.
Objectives:
The objective of this study is to complete our offer of NIPD by developing an approach on isolated Circulating Trophoblastic Fetal Cells (CFTC) adapted to the analysis of the genes and mutations involved in current prenatal testing requests.
Methodology :
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •older than 18 years old
- •pregnant woman between 9 and 34 weeks of gestation
- •Couple undergoing prenatal diagnosis for a monogenic disease caused by point mutation(s)
- •Written informed consent was obtained for the study
- •Prenatal diagnosis has been programmed for the current pregnancy during which maternal blood is collected
- •Couple molecular diagnosis results for a monogenic disease caused by point mutation(s) MUST BE AVAILABLE.
排除标准
- •Couple Genomic DNA are unavailable
- •Subjects at risk of transmitting the family disease, but not wishing to know their molecular status
- •Individuals under guardianship by court order
研究组 & 干预措施
Expectant couple at risk of transmitting a monogenic disease.
Expectant couple (pregnant woman from 9 weeks of gestation and spouse) at risk of transmitting a monogenic disease among the genes included in the trusight one expanded sequencing kit (Illumina).
干预措施: Non invasive prenatal diagnosis (Genetic)
结局指标
主要结局
Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).
时间窗: at 36 month
Analysis of the concordance of the prenatal results obtained by our new NIPD (Non-Invasive Prenatal Diagnosis) approach and those blindly obtained during the gold-standard prenatal genetic test will be carried out for each pregnant woman participating in the study.
次要结局
- Non Invasive Prenatal Diagnostic test failure rate.(at 36 month)