Last updated on September 2017

Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood


Brief description of study

The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

Detailed Study Description

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.

Clinical Study Identifier: NCT01852708

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Zachary Demko, PhD

Natera, Inc.
San Carlos, CA United States
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Ardeshir Karimi, MD

MFM Group of Southern CA
San Gabriel, CA United States
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Peggy Ye, MD

Washington Women's Wellness Center
Washington, D.C., United States
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Angela Ranzini, MD

Saint Peter's University Hospital
New Brunswick, NJ United States
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Ronald Wapner, MD

Columbia University
New York, NY United States
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