A Prospective Clinical Study to Evaluate a Novel Non-invasive Prenatal Screening Method for Characterizing Fetal Whole Chromosome Aberrations and Other Major Defects and Deletions Found in the Maternal Blood.
试验速览
- 阶段
- 不适用
- 入组人数
- 340
- 试验地点
- 10
- 主要终点
- Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis
研究概览
简要总结
The purpose of this study is to detect whole chromosome abnormalities in maternal blood.
详细描述
The purpose of this study is to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y, in the fetus through analysis of cell free and compound sample DNA (cf DNA and cs DNA, respectively) in maternal blood. In addition, major deletions and duplications in chromosomes 1, 4, 5, and 22 will be detected.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 54 Years（Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •• Subject is a pregnant woman 18-54 years of age at 8-22 weeks' gestation inclusive;
- •Subject has additional risk indicators for fetal chromosome aneuploidy, including one or more of the following:
- •Maternal age > 34 years at the estimated date of delivery;
- •Positive serum screening test suggesting fetal aneuploidy;
- •Previous positive noninvasive cfDNA test is acceptable
- •Fetal ultrasound abnormality suggesting fetal chromosomal abnormality;
- •Personal or family history of Down syndrome or other chromosomal aneuploidy.
- •Willing to provide written informed consent
- •Willing to be re-contacted subsequently for additional information and/or testing if necessary.
排除标准
- •Subjects will not be entered into this study if they meet the following criteria:
- •Fetal demise at the time of the blood draw;
- •Previous specimen donation under this protocol;
- •Unwilling or lacks the capacity to provide informed consent or to comply with study procedures;
- •Currently under treatment for cancer
- •Any history of autoimmune disease
- •Any pelvic mass
- •Previous history of radiation to pelvis
- •Any history or current evidence of a twin demise at any gestational age.
结局指标
主要结局
Validate the prenatal aneuploidy laboratory developed test (LDT) with maternal blood samples from pregnant women who are undergoing invasive prenatal diagnosis
时间窗: Participants will have a single visit and completion in study occurs once invasive procedure results have been recorded.
A single 20 mL blood sample will be obtained from each subject during the first or second trimester, blind-coded, and transferred to the Sponsor Laboratory for processing to plasma. Subjects electing to undergo an invasive procedure for fetal Karyotyping (defined as standard cytogenetics and/or microarray, FISH, QF-PCR) will have the blood sample obtained prior to the procedure. The performance characteristics (sensitivity, specificity, negative and positive predictive value) of the laboratory developed test to detect whole chromosome abnormalities on all chromosomes 13, 16, 18, 21, X and Y will be determined using fetal karyotype on specimens obtained by chorionic villus sampling and/or genetic amniocentesis for those subjects who undergo these diagnostic procedures as part of their standard care as the gold standard.
次要结局
未报告次要终点