NCT01852708

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

Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 1,059 (actual)
• Sponsor: Natera, Inc. · Industry
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

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 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.

Conditions

• Trisomy 21
• Trisomy 18
• Trisomy 13
• Sex Chromosome Abnormalities
• Microdeletion Syndromes

Timeline

• Start date: 2012-11-01
• Primary completion: 2020-10-01
• Completion: 2020-10-01
• First posted: 2013-05-14
• Last updated: 2020-12-30

Locations

9 sites across 3 countries: United States, Spain, Taiwan