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Objective

Primary objective: The primary study objective is to develop and evaluate the test performance of a sgNIPT assay for the following disorders:
 CF (CFTR)
 SMA (SMN1)
 α-thalassemia (HBA1/HBA2)
 β-hemoglobinopathies including sickle cell disease (HBB)
Secondary objectives: The secondary study objectives are to evaluate the test performance of a sgNIPT assay for one of the following disorders:
 Familial Mediterranean fever (MEFV)
 Gaucher disease (GBA)
 Phenylketonuria (PAH)
 Hexosaminidase A deficiency (including Tay-Sachs disease) (HEXA)
 Wilson disease (ATP7B)
 Smith-Lemli-Opitz syndrome (SLOS) (DHCR7)
 Familial dysautonomia (IKBKAP)
 Carnitine palmitoyl transferase deficiency type 2 (CPT2)
 Canavan disease (ASPA)
 Krabbe disease (GALC)
 Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADM)
 Pompe disease (GAA)
 Autosomal recessive polycystic kidney disease (PKHD1)
 Galactosemia (GALT)
 Additional genes as approved by the Medical Monitor
Exploratory objectives:
 Investigate relationships between circulating placental DNA (fetal fraction) or other test parameters including potential genotypic markers, and pregnancy or neonatal outcomes