EXpanding Prenatal Cell Free DNA Screening Across MoNogenic Disorders (EXPAND)

Inclusion Criteria:

1. Age 18 or older at the time of informed consent

2. Maternal participant: Pregnant and blood draw at ≥ 9 weeks gestational age (GA)

3. Maternal participant is positive for a single-gene disorder and/or there areprenatal ultrasound findings suggestive for a fetal single-gene disorder, includingbut not limited to the genes listed in the primary and secondary objectives

4. Meet the criteria for one of the following:

• Both maternal and reproductive partner (paternal) status are positive for thesame single-gene disorder OR

• A commercially available single-gene NIPT has been performed as part ofclinical care and is reported as increased risk for an affected fetus/fetusesOR Maternal status is positive for one or more single-gene disorders andreproductive partner status is unknown OR

• Prenatal ultrasound findings are suggestive of a fetal single-gene disorder (autosomal dominant, autosomal recessive, or X-linked condition) and enrollmentis approved by the medical monitor.

5. Willing to permit release of neonatal health information and the performance of anewborn cheek swab within 6 months following delivery

6. Willing to sign informed consent and comply with study procedures

Exclusion Criteria:

1. Reproductive partner found to not be positive for the same autosomal recessivegenetic disorder as the pregnant maternal carrier, or vice versa

2. Surrogate gestation or egg donor pregnancy

3. Negative preimplantation genetic testing for the single-gene disorder identified inone or both parents