1.1 Non-Invasive Prenatal Testing Using Cell Free Fetal DNA in Maternal Plasma: An Aid to Prenatal Sonographic Diagnosis

Abstract

Cell free fetal DNA (cffDNA) circulates in low concentration in maternal plasma and is a source of genetic material for safe non-invasive prenatal testing (NIPT). It is in routine use in the UK for fetal RHD determination in RhD-mothers, for fetal sex determi-nation in pregnancies at risk of sex-linked disorders and for some single gene disorders. In the US and UK private sector, it is used for aneuploidy testing in high risk women. We reviewed all cases in our unit where NIPT had been requested to help with interpretation of unexpected sonographic findings and identified 16 cases (see Table). Abstract 1.1 Table