EXpanding Prenatal cell free DNA screening Across moNogenic Disorders (EXPAND)

Brief description of study

The purpose of this research is to develop and validate a single gene Non-Invasive Prenatal Test. The development of this investigational single-gene noninvasive prenatal testing (sgNIPT) for conditions such as cystic fibrosis (CF), spinal muscular atrophy (SMA), Sickle cell disease, alpha thalassemia (a-thalassemia) and beta thalassemia (ß-thalassemia) could provide information about the possibility that a child will be born with a serious health condition, in some cases in the absence of paternal screening.

Clinical Study Identifier: s24-00121

Principal Investigator: Ashley S Roman.

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