Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood (Microdel Triad)
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal 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: Family-Based
Time Perspective: Prospective
|Official Title:||Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood|
- Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus [ Time Frame: 4 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
- Maternal blood sample
- Affected child blood sample
- Unaffected sibling blood sample
- Father buccal or blood sample
|Study Start Date:||October 2012|
|Estimated Primary Completion Date:||December 2016 (Final data collection date for primary outcome measure)|
|Families with child affected by chromosomal abnormality|
The primary purpose of this study is to collect family triads from families affected by a genetic or microdeletion/duplication (MD/D) syndrome to further develop non-invasive prenatal testing based on fetal DNA isolated from maternal blood. To assist with the development of the test, we will need to collect blood samples from women whose child was diagnosed with a genetic or MD/D syndrome, a blood sample from that child as well as a blood sample from their confirmed unaffected siblings. Since the test is based on Natera's Parental Support™ technology, buccal or blood samples from the biological fathers will also be requested.
A recent abstract from a five year study on prenatal microarray testing revealed that 1.6% of women who present for routine prenatal indications have a positive microarray test. With the frequency of microdeletions and microduplications (MD/D) now known to be higher than previously thought, the field is likely to move toward offering invasive testing for microarray abnormalities to all pregnant women. Although non-invasive prenatal testing for aneuploidy is now clinically available, it has become clear that non-invasive prenatal testing for MD/D is equally important. However, access to these samples is made difficult as the standard of care for offering microarray analysis to all pregnant women will take time to come to fruition. We would like to develop this non-invasive as the standard of care so that less women will have to undergo invasive testing for the diagnosis of microarray abnormalities. Thus, there is an unmet need for the development of novel tests that would increase the scope of non-invasive prenatal screening.
Please refer to this study by its ClinicalTrials.gov identifier: NCT02109770
|Contact: Melissa Schirmer||650-249-9090 ext firstname.lastname@example.org|
|Contact: Nia Sengupta||650-249-9090 ext email@example.com|
|United States, California|
|San Carlos, California, United States, 94070|
|Principal Investigator:||Matthew Rabinowitz, PhD||Natera, Inc.|