Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

Inclusion Criteria

• •Subject is willing to provide informed consent and comply with study procedures
• •Pregnant female, 18 to 54 years of age carrying a singleton fetus of 8 to 22 weeks gestational age
• •Willing to provide a study blood sample in accordance with the protocol
• •Willing to allow access to her medical records to collect pregnancy outcome information
• •Willing to provide consent for release of fetal karyotype if an invasive procedure (CVS or amniocentesis) is performed during the pregnancy
• •Subject is known to be at risk for one or more of the following:
• •fetal gene and chromosome abnormalities (e.g., T21, T18, T13, microdeletion syndromes, sex chromosome abnormalities)
• •congenital fetal infection (e.g. toxoplasmosis, syphilis, HIV, rubella, CMV, HSV)
• •irregular blood group antigens (subject or father of the baby)
• •other condition amenable to noninvasive prenatal testing such as a single gene disorder (e.g., CF, sickle cell, Fragile X)