Cell-free fetal DNA and non-invasive prenatal diagnosis

Abstract

The potential for change in the delivery of prenatal diagnosis and screening secondary to these new technologies is vast. The likelihood is that there will be a significant change in how we counsel women and couples who are considering prenatal screening and genetic diagnosis. This will demand that primary care teams have the necessary competencies to advise women and couples. There are many technical and ethical hurdles to overcome. We will need to maintain high standards of counselling to facilitate informed consent taking account of cultural variation. 16 Of prime importance will be both healthcare professional and public education. The message for primary care is clear. The technology exists for novel approaches to prenatal diagnosis. There are already clinical applications. Primary care teams need to be aware of the potential for earlier and safer prenatal diagnosis to facilitate timely and appropriate referral to genetic or obstetric teams. In particular, those offering community-based antenatal care need to be aware of the developments in Down's syndrome diagnosis and screening, albeit for the time being to be in a position to inform women and their families that these technologies are still in the developmental phase. There is no doubt that an understanding of the science with the ability to communicate this to the public will be key for the effective delivery of this exciting breakthrough in fetal medicine and antenatal care. This communication must start in the community.