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Non-invasive prenatal diagnosis

Fetal Medicine Research Unit, St Michael's Hospital, Bristol, UK

Sherif Abdel-Fattah, MD MRCOG

Consultant/Senior Lecturer in Fetal Medicine, Fetal Medicine Research Unit, St Michael's Hospital, Bristol, UK

Peter Soothill, MD FRCOG, Professor of Fetal Medicine

Fetal Medicine Research Unit, University of Bristol, St Michael's Hospital, Southwell Street, Bristol, BS2 8EG, UK E-mail: peter.soothill{at}bristol.ac.uk (corresponding author)

Obtaining fetal material for molecular analysis without the need for invasive procedures has been a goal of fetal medicine for many years. This is becoming a reality now that circulating cell-free fetal nucleic acids can be detected in maternal plasma. Tests are already being used in clinical practice for the management of X-linked conditions through the determination of fetal sex and for red cell alloimmunisation by prediction of fetal rhesus D status. The sensitivity of this technique produces highly accurate results, thereby reducing the number of invasive procedures needed. This approach has also been used in the diagnosis of genetic disorders and in obstetric complications where the level of free fetal DNA may be a marker for placental abnormalities.

Keywords fetal DNA / maternal plasma / prenatal diagnosis