Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its
guidelines that now recommend physicians are ethically obligated to fully inform all pregnant
women that screening for fetal chromosomal abnormalities including biochemical screening
tests and invasive procedures such as CVS or amniocentesis is available, regardless of age.
Further, it is entirely up to the patient to decide whether or not she wishes to be screened
for fetal chromosomal abnormalities without judgment from the physician.

Noninvasive laboratory-developed tests (LDTs) that detect an abnormal amount of maternal and
fetal DNA in an expectant mother's blood sample (known as circulating cell-free DNA) are now
available. These LDTs have not been cleared or approved by the U.S. Food and Drug
Administration (FDA). Although LDTs to date have not been subject to U.S. FDA regulation,
certification of the laboratory is required under the Clinical Laboratory Improvement
Amendments (CLIA) to ensure the quality and validity of the test.

To sample collection study will obtain whole blood specimens from pregnant subjects to be
used for development of prenatal assays to assist in the screening for fetal genetic
abnormalities, infectious and other diseases, and blood group typing through detection of
circulating cell-free DNA extracted from maternal plasma.