Trisomy 21 Clinical Trial
Official title:
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.
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