Prenatal Diagnosis course for GPs

This session explores key issues around pre-natal diagnosis in primary care. It discusses testing for Down syndrome, neural tube defects, cystic fibrosis, haemoglobinopathies and infections in pregnancy.

This session was reviewed by Khyati Bakhai and last updated in July 2020.

Learning Objectives

By the end of this session you will be able to:

• List key indications, benefits and risks associated with prenatal diagnosis
• Describe how prenatal diagnostic tests may be used to diagnose neural tube defects and genetic disorders
• Explain chorionic villus sampling, amniocentesis, ultrasound and maternal serum sampling
• Describe the role of general practice in offering information to those at risk of having children with genetic disorders
• List the main infectious diseases for which all pregnant women should be offered testing

Prenatal diagnosis uses a range of techniques to determine the health of an unborn foetus. It is offered to pregnant women if they have positive antenatal screening results or if there are certain qualifying risk factors. The primary aim of pre-natal diagnosis is to provide an accurate diagnosis of a condition before birth to those at risk of having children with genetic disorders or with congenital abnormalities, allowing early intervention and enabling those affected to have the widest possible range of informed choices.