Prequel NIPT Total

Cystic Fibrosis (CFTR)

1 in 25-30 carrier rate (Caucasians); lung/pancreatic disease

Spinal Muscular Atrophy (SMN1)

1 in 40-60 carriers; progressive muscle weakness

Fragile X Syndrome (FMR1)

Leading inherited cause of intellectual disability

Sickle Cell Disease (HBB)

1 in 12 carriers (African ancestry); painful crises, anemia

Beta Thalassemia (HBB)

High carrier rates in Mediterranean, Asian populations; severe anemia

Alpha Thalassemia (HBA1, HBA2)

Common in Asian, Mediterranean, African populations

Tay-Sachs Disease (HEXA)

1 in 30 carriers (Ashkenazi Jewish); fatal neurodegeneration

Canavan Disease (ASPA)

1 in 40 carriers (Ashkenazi Jewish); brain degeneration

Familial Dysautonomia (IKBKAP)

1 in 30 carriers (Ashkenazi Jewish); autonomic dysfunction

Gaucher Disease (GBA)

1 in 15 carriers (Ashkenazi Jewish); multi-organ involvement

Bloom Syndrome (BLM)

1 in 100 carriers (Ashkenazi Jewish); growth deficiency, cancer risk

Fanconi Anemia (multiple genes)

Bone marrow failure, cancer predisposition

Phenylketonuria (PAH)

1 in 50 carriers; intellectual disability if untreated

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (ACADM)

Sudden infant death risk

If mother is a carrier AND father is also a carrier (requires paternal testing), fetus has 25% risk of being affected

If mother is a carrier of X-linked condition, male fetus has 50% risk of being affected

Informs current pregnancy management and future reproductive planning

Identifies need for paternal carrier screening