Prenatal diagnosis and genetic analysis of a fetus with endocardial cushion defects

Objective To perform prenatal diagnosis for a fetus with endocardial cushion defect and explore its mechanism. Methods The karotypes of the fetus and its parents were analyzed by routine G-banding. Their genomic DNA was also analyzed by array comparative genomic hybridization (aCGH). Results The fetus and its mother were found to have a karyotype of 46, XX, inv(8)(p21q24.1), while no karyotypic abnormality was detected for the father. aCGH has detected a 15.14 Mb deletion at 8p23.3-p22 and a 6.87 Mb duplication at 8q24.23-q24.3 in the fetus. Conclusion The fetus was diagnosed with Rec8 syndrome. Its abnormal chromosomes have derived from the inv(8) carried by its mother. GATA4 and SOX7 may be the key genes for the endocardial cushion defect found in the fetus. Key words: Rec8 syndrome; Prenatal diagnosis; Array comparative genomic hybridization; Endocardial cushion defect