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

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