Non-Invasive Prenatal Diagnosis for monogenic disorders: Where are we and where are we going?

NIPT for aneuploidy is in widespread use across the globe to screen for aneuploidy. Use of circulating cell free DNA for the diagnosis of monogenic disorders is not widely used but in the UK we have an accredited diagnostic service based on analysis of cfDNA in maternal plasma as part of our national public health genetic service. In this talk I will explain how we have gone from delivering sex determination to triage invasive testing for sex-linked disorders, through exclusion or detection of paternally inherited or de novo mutations to offering a diagnostic service for recessive monogenic disorders such as cystic fibrosis. Finally how new technologies may influence future developments will be explored.