Suspected fetal anomalies

Congenital anomalies are present in 2-3% of all fetuses. Suspicion or discovery of a fetal abnormality is therefore a frequent source of anxiety and upset for couples and their wider families. A proper understanding of the pathways of diagnosis and care is vitally important in facilitating informed choice and minimizing the stress experienced by couples. This review considers different scenarios for suspected fetal anomalies; from a low risk patient with a suspected fetal anomaly at the first trimester ultrasound scan (USS), to a high risk patient with a fetal malformation diagnosed at the anomaly USS. Here, we discuss the different pathways in these scenarios and the different management options available to families and doctors, including non-invasive prenatal testing, amniocentesis, treatment options and termination of pregnancy.