The goal of this study is to develop and validate (confirm) a single gene, non-invasive prenatal test (sgNIPT) for conditions such as cystic fibrosis, spinal muscular atrophy, sickle cell disease, and certain genetic blood disorders. The development of the test could provide information about the possibility of a child being born with a serious health condition, and in some cases, in the absence of paternal screening. Participants are pregnant women who (and/or whose reproductive partner) has undergone single-gene carrier screening and is positive for one or more single-gene disorders, is identified as affected by a single-gene disorder, or whose fetus is identified as having increased risk for a single-gene disorder. In order to develop the test, researchers need to collect blood samples and medical information from pregnant women who have pregnancies at higher risk for single-gene disorders, such as those who are carriers for the conditions mentioned above or affected by the conditions themselves; medical data from their reproductive partners (in some cases); and either genetic testing results or a cheek swab sample from the newborn.
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What is the full name of this clinical trial?
EXpanding Prenatal cell free DNA screening Across moNogenic Disorders