Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
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|ClinicalTrials.gov Identifier: NCT01852708|
Recruitment Status : Recruiting
First Posted : May 14, 2013
Last Update Posted : March 13, 2019
|Condition or disease|
|Trisomy 21 Trisomy 18 Trisomy 13 Sex Chromosome Abnormalities Microdeletion Syndromes|
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.
|Study Type :||Observational|
|Estimated Enrollment :||6000 participants|
|Official Title:||Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood|
|Study Start Date :||November 2012|
|Estimated Primary Completion Date :||November 2019|
|Estimated Study Completion Date :||November 2019|
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).
- Sensitivity and Specificity of testing [ Time Frame: 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.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01852708
|Contact: Melissa Egbert||650-249-9090 ext firstname.lastname@example.org|
|Contact: Amanda Lee||650-249-9090 ext 1913|
|United States, California|
|San Carlos, California, United States, 94070|
|Contact: Amanda Lee 650-249-9090 ext 1913 email@example.com|
|Principal Investigator: Kim Martin, MD|
|MFM Group of Southern CA||Recruiting|
|San Gabriel, California, United States, 91776|
|Contact: Yolanda Brown 626-282-9250 firstname.lastname@example.org|
|Principal Investigator: Ardeshir Karimi, MD|
|United States, District of Columbia|
|Washington Women's Wellness Center||Recruiting|
|Washington, District of Columbia, United States, 20010|
|Principal Investigator: Peggy Ye, MD|
|United States, New Jersey|
|Saint Peter's University Hospital||Completed|
|New Brunswick, New Jersey, United States, 08901|
|United States, New York|
|New York, New York, United States, 10032|
|Contact: Caroline Torres, CCRC|
|Principal Investigator: Ronald Wapner, MD|
|Principal Investigator:||Kim Martin, MD||Natera, Inc.|