Prenatal Screening and Diagnosis

Abstract

Screening is the process of identifying healthy individuals who may be at an increased risk of a disease or condition. Screening in pregnancy is offered to all eligible women to assess their risk of having a baby with Trisomy 21, 18 or 13 or their risk of a number of congenital anomalies. The screening programme will identify those women at higher risk and offer them further investigations. Women should have early access to the screening programme in order to make an informed choice regarding their options and these choices should be supported by healthcare professionals. They should be informed that the screening programme will not detect all abnormalities and be aware of the difference between screening and diagnostic tests. Once identified, high-risk patients should be managed according to an agreed protocol in a timely manner. Litigation in this field is centred around wrongful birth and as such has major cost implications as these costs may include the long-term care of affected individuals.