Abstract
Key Content The haemoglobinopathies encompass a complex collection of red blood cell disorders that are responsible for considerable morbidity and mortality in women and their unborn children. Sickle cell disease and the thalassaemias are the commonest haemoglobinopathies encountered in UK clinical practice. A consistent standard of care will enable women with haemoglobinopathies to have a pregnancy that is as safe as possible, with good outcomes and minimal long‐term effects on their health and the health of their babies. The most effective way to deliver a consistent standard of care for these women is via the multidisciplinary team (MDT). The MDT should include a haematologist, cardiologist, maternal medicine obstetrician, specialist midwife, reproductive medicine specialist and a nurse specialist. The care of these women, within the MDT, should start with pre‐conception advice and continue through their antenatal care, intrapartum support and finally, provide postnatal considerations including contraception advice. Learning Objectives To understand the inheritance, incidence, detection and pathophysiology of the commonest haemoglobinopathies. To appreciate the role of pre‐conception advice and prenatal diagnosis in the management of women with a haemoglobinopathy. To appreciate the multidisciplinary team approach in managing women with these conditions. Ethical Issues Prenatal diagnostic techniques can be used to diagnose an affected pregnancy; however, diagnosis after conception means families must address the option of terminating the pregnancy. This requires expert counselling to minimise long‐term sequelae. The definitive prenatal tests – chorionic villus sampling and amniocentesis – are both associated with a small risk of miscarriage. Non‐invasive free fetal DNA (ffDNA) tests that will minimise the risk of testing to the developing fetus are being developed, but use of these tests will still require expert counselling both before and after a test is taken.
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