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

What this Trial Is About

This research aims to develop and validate a single-gene Non-Invasive Prenatal Test (sgNIPT) to detect serious health conditions like cystic fibrosis, spinal muscular atrophy, sickle cell disease, and thalassemias in unborn babies. It focuses on pregnant people with higher risk pregnancies due to carrier status or affected conditions, including cases without reproductive partner screening. The study will gather blood samples and medical information from pregnant participants and, when applicable, their partners and newborns. Participants will undergo the investigational sgNIPT, which is designed for pregnant people whose fetus is at increased risk for a single-gene disorder. This includes situations where there is no partner screening, positive partner screening but no prenatal diagnostic testing, or ultrasound findings suggesting a single-gene disorder regardless of carrier status. The study will collect newborn cheek swabs and health data within six months after delivery as part of the research. During the study, participants will provide blood samples after nine weeks of pregnancy, and researchers will collect medical and genetic information from participants and their partners. Newborn health information and cheek swabs will be collected post-delivery to assess the test's performance. The primary outcome is the accuracy of the sgNIPT in detecting four main autosomal recessive disorders approximately two years after study launch, followed by evaluation of other single gene disorders about six months later. Participation involves consenting to these procedures and ongoing information sharing throughout the study period.

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