Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy

Objective To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus. Methods DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation. Suspected mutation was validated with PCR and Sanger sequencing. Results The manifestation of fetal echocardiography was consistent with DCM. No obvious abnormality was found by SNP array analysis. A hemizygous c. 481G>A (p.G161R) mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing. The mutation was inherited from his mother. Conclusion Barth syndrome due to the c. 481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family. Key words: Non-immune hydrops fetalis; Dilated cardiomyopathy; Barth syndrome; Next generation sequencing; Genetic diagnosis