Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
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.
Sex Chromosome Abnormalities
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood|
- 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. [ Time Frame: 1 year ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
The mother and biological father (if available) will be asked to provide a blood sample. There will be 4 tubes collected from the mother (approximately 3 tablespoons) and 1 tube collected from the father (2 teaspoons).
|Study Start Date:||November 2012|
|Estimated Study Completion Date:||November 2016|
|Estimated Primary Completion Date:||November 2016 (Final data collection date for primary outcome measure)|
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).
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01852708
|Contact: Melissa Savage||650-249-9090 ext firstname.lastname@example.org|
|United States, California|
|San Carlos, California, United States, 94070|
|Contact: Melissa Schirmer, MS 650-249-9090 ext 696 email@example.com|
|Principal Investigator: Zachary Demko, PhD|
|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, New Jersey|
|Saint Peter's University Hospital||Recruiting|
|New Brunswick, New Jersey, United States, 08901|
|Contact: Marian Lake 732-339-7602 email@example.com|
|Principal Investigator: Angela Ranzini, MD|
|Principal Investigator:||Zachary Demko, PhD||Natera, Inc.|