Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

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

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.

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.

Inclusion Criteria:

• Couples who have a child diagnosed with an autosomal chromosome abnormality (e.g. Down syndrome, Edwards syndrome, Patau syndrome).
• Couples who have a child diagnosed with a sex chromosome abnormality (e.g. Turner syndrome, Klinefelter syndrome, Triple X syndrome, 47, XYY).
• Couples who have a child diagnosed with a microdeletion/duplication syndrome (a positive microarray test).

Exclusion criteria:

• Not an English language or Spanish language speaker
• Genetics report is not available