NCT02541058已完成不适用
Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma
Cindy Cisneros1 个研究点 分布在 1 个国家目标入组 420 人开始时间: 2015年6月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 420
- 试验地点
- 1
- 主要终点
- Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients
研究概览
简要总结
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patient is ≥18 years of age and able to provide consent or, if under the age of 18, the patient has parental consent and child assent provided as required by the governing ethics committee.
- •If pregnant, patients must have a singleton pregnancy and be at least 10 weeks gestation at the time of the study blood draw.
- •Patients must meet at least one of the following conditions at the time of enrollment:
- •are pregnant with abnormal fetal cardiac findings on ultrasound and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
- •are pregnant with fetal ultrasound findings consistent with a 22q11.2 deletion/duplication phenotype and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
- •are pregnant with a fetus known to have a 22q11.2 deletion/duplication confirmed by genetic testing with documentation is available;
- •are biologically related parent of an enrolled child has chromosomal deletion/duplication in the region of 22q11.2;
- •If the site is selected to enroll control patients, they must be pregnant women undergoing prenatal genetic evaluation for 22q11.2 deletion/duplication.
- •Exclusion Criteria
- •Patients meeting any of the following criteria will be excluded from the study:
- •Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.
排除标准
- 未提供
结局指标
主要结局
Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients
时间窗: 18 months
次要结局
未报告次要终点
研究者
Cindy Cisneros
CRA
Roche Sequencing Solutions
研究点 (1)
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