Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

What this Trial Is About

Researchers are evaluating a non-invasive prenatal diagnosis (NIPD) method for single-gene disorders (SGD) using cell-free fetal DNA (cffDNA) found in maternal blood. This approach offers early and accurate diagnosis from 9 weeks of pregnancy without the miscarriage risks linked to invasive procedures. The study aims to broaden the use of this method to any monogenic disorder by leveraging a collaborative French network, improving current diagnosis options which are limited and mostly research-based. The study involves taking blood samples from pregnant women who are undergoing invasive prenatal diagnosis or counselling due to family history of specific single-gene disorders. These disorders involve mutations in genes such as HBB, CFTR, FMR1, SMN1, and others. Blood plasma is collected and stored for analysis to detect fetal genetic mutations using advanced sequencing techniques. The method is targeted, focusing on specific DNA regions related to the family’s disorder, avoiding broader genome sequencing. Participants will provide blood samples during routine prenatal diagnosis visits, and their samples will be analyzed for the presence and concentration of fetal DNA. Researchers will measure how accurately they can classify affected or unaffected fetuses and monitor inconclusive results. Secondary measures include DNA concentration, sequencing quality, and turnaround time for results. The study will follow participants until birth in some cases, comparing prenatal findings with newborn genotypes. Participation duration varies depending on prenatal visits and follow-up care.

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders