In the recent era, during which there has been improved access to genetic testing options, a higher proportion of fetal cardiomyopathy (CM) cases had an identifiable genetic etiology than reported previously. Despite recent major advances in perinatal management strategies, the postnatal outcome of this group of patients remains very poor.
What are the clinical implications of this work?There is a critical role for genetic assessment and investigation of the family in cases of fetal CM. Interpretation of genetic test results is complex and the implications are multiple, including targeted screening of the extended family and recurrence-risk counseling in future pregnancies. Through provision of information on recent outcomes of a group of patients with fetal CM, the findings of this study should facilitate accurate counseling of families following a prenatal diagnosis of this rare condition.
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