Cell-based Non-invasive Prenatal Testing - Evaluation of Time of Blood Sampling and Whole Genome Amplification Prior to Genetic Testing
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 48
- 试验地点
- 2
- 主要终点
- Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14.
研究概览
简要总结
The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary disorders.
详细描述
The study has three main objects:
- to evaluate the optimal time of blood sampling (gestational week 7-8 or 11-14)
- to evaluate whole genome amplification prior to genetic analysis og isolated fetal cells (only relevant for monogenic disorders)
- evaluating specificity and sensitivity
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •Pregnancy following preimplantation genetic testing
排除标准
- 未提供
结局指标
主要结局
Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14.
时间窗: Within 2 years
Evaluation of whether cbNIPT be performed in gestational week 7-8.
Specificity and sensitivity of single cell analysis.
时间窗: Within 2 years
Evaluation of the sensitivity and specificity of single cell analysis.
Percentage of test with an informative test result from genetic testing following whole genome amplification or direct testing without whole genome amplification.
时间窗: Within 2 years (since data analysis is carried out later than sample collection)
Analysis of whether genetic testing on whole genome amplified material is inferior to genetic testing directly on DNA purified from single cells.
次要结局
未报告次要终点
研究者
Christian Liebst Frisk Toft
Principal investigator, Molecular Biologist, ph.d.
Aalborg University Hospital