Suspected fetal anomalies: an overview for general obstetricians and gynaecologists

Published:February 18, 2023DOI:


      Advances in fetal ultrasonographic assessment have led to improvements in the antenatal diagnosis of many structural anomalies. Approximately 60% of congenital fetal defects can be diagnosed during the 20 week anomaly scan. Some of them are so severe that the option of termination of pregnancy should be discussed. Some, can be successfully managed in utero, or postnatally. Most pregnancies affected by congenital fetal anomalies are cared for by a specialist team of fetal medicine doctors and midwives, with contributions from clinical geneticists, neonatologists and specialist paediatricians and paediatric surgeons. However, it is important that general obstetricians have a basic knowledge of suspected fetal anomalies in order to support women and their families during their first consultation following the initial diagnosis or suspicion of abnormality. Furthermore, they may well be part of the on call team when labour and birth occur. This article covers the most common structural fetal anomalies in a systematic manner, starting from head and brain abnormalities, and progressing through thoracic, abdominal wall, kidney and bladder malformations, and various skeletal and limb abnormalities. It is important that women are counselled adequately and referred to a fetal medicine centre in a timely manner.


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      Further reading

        • Coady A.M.
        • Bower S.
        Twining's textbook of fetal abnormalities.
        3rd edn. Churchill Livingstone, an Imprint of Elsevier Limited, 2015
        • Monteagudo A.
        Exencephaly-anencephaly sequence.
        Am J Obstet Gynecol. 2020; 223: B5-B8
        • Phillips L.A.
        • Burton J.M.
        • Evans S.H.
        Spina bifida management.
        Curr Probl Pediatr Adolesc Health Care. 2017; 47: 173-177
        • Thomas A.N.
        • McCullough L.B.
        • Chervenak F.A.
        • Placencia F.X.
        Evidence-based, ethically justified counseling for fetal bilateral renal agenesis.
        J Perinat Med. 2017; 45