Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Detection yield of fetal paternally transmitted single nucleotid variations (SNV) in free cell maternal DNA Absence of non fetal paternally transmitted single nucleotid variations (SNV) in maternal free cell DNA (cfDNA)
研究概览
简要总结
The aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially inherited by the fetus. This test will avoid an invasive prenatal diagnosis in those families with a known genetic risk.
The performance of this test will be evaluated in terms of sensitivity and specificity with an adapted statistic model.
Secondary objectives of the protocol are
- To adapt NIPT to small DNA quantity (5-50 ng)
- To adapt bioinformatics pipeline to low rate of mosaicism
- To develop a tool to quantify the fetal fraction
- To evaluate the robustness of the method
This test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 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
- 否
入选标准
- •Couple (father, mother) > 18 ans
- •Pregnant woman (> 12-15 weeks of gestation) with a fetal sampling needed in standard care.
- •informed consent obtained
- •couple affiliated to the social insurance in France
排除标准
- •DNA extraction failure
- •Absence of informed consent
- •Father or mother placed under judicial protection or under guardianship or tutorship
研究组 & 干预措施
couple : man and pregnant women
干预措施: NIPT Test (Diagnostic Test)
结局指标
主要结局
Detection yield of fetal paternally transmitted single nucleotid variations (SNV) in free cell maternal DNA Absence of non fetal paternally transmitted single nucleotid variations (SNV) in maternal free cell DNA (cfDNA)
时间窗: Measurement will be performed at the end of the protocol (12 months)
次要结局
- Comparison of SNV detection efficiency of several bioinformatics pipeline Robustness evaluation in function of - Fetal percent in cfDNA - Genomic region - Initial input of cfDNA(Measurement will be performed at the end of the protocol (12 months))