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[Case Report Comment] Tailored genetic testing provides answer to fetal anomaly

In The Lancet, Peter Kroisel and colleagues1 describe a rare new mutation in the haem oxygenase 1 (HMOX1) gene associated with recurrent fetal anomalies in an Austrian family. The first pregnancy had to be terminated because of severe congenital anomalies. The mother’s second pregnancy ended in a spontaneous miscarriage. By 20 weeks in her third pregnancy there were several fetal anomalies documented, including an enlarged liver and restricted growth. There was similarity in the facial features of both terminated fetuses, and the general oedema and early-onset growth restriction in both suggested an underlying genetic basis.