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Lethal congenital abnormalities: the importance of a multidisciplinary approach 

Lethal congenital abnormalities: the importance of a multidisciplinary approach
Lethal congenital abnormalities: the importance of a multidisciplinary approach

Lisa Story

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date: 20 June 2021

Thanatophoric dysplasia is the most common lethal skeletal dysplasia complicating 1:20 000 pregnancies. It is characterized by a number of skeletal abnormalities including short long bones, bowing of the femur, short ribs and fingers, macrocephaly with frontal bossing, and a cloverleaf skull. In this case, with a history of consanguinity, these features were detected at the anomaly scan. When a serious abnormality is detected, regular review in a dedicated fetal medicine unit is essential to ensure that parents are adequately counseled on prognosis, and for further genetic testing or termination to be conducted if necessary. Parent’s opting to proceed with an affected pregnancy should be offered input from neonatologists with a clear plan for delivery and initial palliative management made. In the event of neonatal death, investigations including postmortem, skeletal survey, and DNA testing should be offered to confirm diagnosis and aid counselling of future pregnancies.

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