Prenatal Diagnosis for Monogenic Conditions

Project Background

Traditionally, prenatal diagnosis of monogenic disorders has required an invasive test, amniocentesis or chorionic villus sampling, both of which require insertion of a needle into the womb and carry a small risk of miscarriage. Over the last 10-20 years UK researchers have developed Non-invasive prenatal diagnosis (NIPD) for monogenic disorders based on analysis of the cell free DNA (cfDNA) circulating in maternal blood as we know that some of the cfDNA is fetal in origin. NIPD has become available for families at known increased risk because of a relevant family history or relevant prenatal ultrasound findings, enabling safer and earlier definitive prenatal diagnosis without miscarriage risk.

In a world leading initiative, NIPD for selected conditions is included in the national genomic test directory, to be delivered by two genomic laboratory hubs (GLHs)– North Thames GLH, and Central and South GLH. Whilst non-invasive prenatal testing for the three major trisomies (13,18 and 21) is well established across the globe, we are the only country offering a national NIPD service.