Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial

First trimester screening is the current standard of care for pregnant women in the United
States. Women with a high screening risk for trisomy then have invasive testing, which
carries a risk of miscarriage, to definitively determine if the fetus has trisomy. Because of
the high false negative rate of the first trimester screening, an unacceptable number of
trisomic fetuses are not detected. Moreover, because of the high false positive rate, an
unacceptable number of women undergo invasive follow up testing. Additional screening tests
are needed that combine a high sensitivity, a low false positive rate, and minimal or no risk
to the fetus.

Inclusion Criteria:

1. Singleton pregnancy

2. Gestational age between 8 weeks 0 days and 23 weeks, 6 days by best obstetrical
estimate

3. Mother has a high or moderate risk for trisomy

4. Mother is planning to have or has had an amniocentesis or chorionic villus sampling
(CVS) procedure

Exclusion Criteria:

1. Unavailability of the father to provide a genetic sample (e.g. sperm donor,
non-paternity)

2. Egg donor used

3. Mother or father have known chromosomal abnormalities (including known balanced
translocations)

4. Participation in the study in a previous pregnancy

5. Pregnancy is a result of IVF with pre-implantation genetic diagnosis