Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood (MAPS)
Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood
研究概览
详细说明
The goal of this study is to further develop a non-invasive prenatal blood test that can diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in the mother's bloodstream during pregnancy.
Women carrying a fetus diagnosed with microdeletions/microduplications (small missing or extra pieces of DNA that can cause problems), aneuploidy (trisomy 21, 18, or 13) or other genetic disorders will be asked to participate.
If this study is successful, it will reduce the need for invasive procedures during pregnancy such as amniocentesis and chorionic villus sampling (CVS) but still enable women to find out accurate information regarding their baby's health early in the pregnancy.
研究类型
注册 (实际的)
联系人和位置
学习地点
-
-
-
Taipei、台湾、10050
- GenePhile Biosciences
-
-
-
-
California
-
San Carlos、California、美国、94070
- Natera, Inc.
-
San Gabriel、California、美国、91776
- MFM Group of Southern CA
-
-
District of Columbia
-
Washington、District of Columbia、美国、20010
- Washington Women's Wellness Center
-
-
New Jersey
-
New Brunswick、New Jersey、美国、08901
- Saint Peter's University Hospital
-
-
New York
-
New York、New York、美国、10032
- Columbia University
-
-
Pennsylvania
-
Philadelphia、Pennsylvania、美国、19104
- The Children's Hospital of Philadelphia
-
-
Texas
-
Houston、Texas、美国、77054
- Dr. Meltzer Clinic
-
-
-
-
-
Barcelona、西班牙、08035
- Hospital Materno Infantil Vall d'Hebron
-
-
参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
取样方法
研究人群
描述
Inclusion Criteria:
- Age 18 or older at enrollment
- Gestation age of at least 9 weeks, 0 days by best obstetrical estimate
- One or more fetuses with a clinically confirmed diagnosis of a genetic variant of interest via karyotype, FISH, chromosomal microarray or other genetic assay AND/OR
- One or more fetuses with any variant of fetal structure that is expected to require medical or surgical intervention in the newborn period, shorten lifespan, affect intellectual development or otherwise indicate a genetic anomaly AND/OR
- Positive high risk noninvasive prenatal screening or serum screening result
- Able to provide informed consent
Exclusion Criteria:
•Maternal history of bone marrow or organ transplantation
学习计划
研究是如何设计的？
设计细节
- 观测模型：队列
- 时间观点：预期
队列和干预
团体/队列 |
|---|
|
Pregnant Women
Women and their partners (presumed biological father of the fetus) who are currently pregnant and carrying a fetus that has been diagnosed with a microdeletion/duplication syndrome, aneuploidy or another genetic disorder (positive karyotype result or positive result on microarray test).
|
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Sensitivity and Specificity of testing
大体时间：1 year
|
Sensitivity and Specificity of the test to diagnose microdeletions (eg.
22q and 5p-) and aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.
|
1 year
|
合作者和调查者
赞助
调查人员
- 首席研究员：Zachary Demko, PhD、Natera, Inc.
研究记录日期
研究主要日期
学习开始 (实际的)
初级完成 (实际的)
研究完成 (实际的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.
21三体的临床试验
-
Provitro GmbHCharite University, Berlin, Germany; AstraZeneca完全的
-
University Hospital, Gentofte, CopenhagenThe Novo Nordisk Foundation Center for Basic Metabolic Research主动，不招人
-
WaveForm Technologies Inc.完全的
-
Henry Ford Health SystemUniversity of Michigan; Geisinger Clinic完全的
-
University of PennsylvaniaSequenom, Inc/Laboratory Corporation of America Holdings完全的
-
BioCeryxUniversity of British Columbia; University College London Hospitals; Brugmann University Hospital 和其他合作者未知
-
Assistance Publique - Hôpitaux de Paris完全的