Major structural abnormalities occur in 2–3% of fetuses accounting for 20–30% of perinatal mortality in the developed world. The vast majority occur in low-risk women, are sporadic and therefore cannot be anticipated. With rapid advances in molecular diagnostic techniques and recent developments in in-utero therapy, early diagnosis of fetal problems is imperative. While tests such as first and second trimester ultrasound assessment and serum screening are becoming more effective, the importance of a detailed history at the beginning of pregnancy should not be underestimated. In addition, preconceptual counselling for ‘at risk’ families can have a major impact on pregnancy outcome. This article discusses current methods for detecting fetal anomalies and summarizes the management options.
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