Abstract:Objective To evaluate the value of chromosome microarray analysis (CMA) in prenatal diagnosis of fetal cardiac dysplasia by echocardiography, and to analyze the relationship between chromosome 15q13 microduplication and cardiac dysplasia. Methods Amniotic fluid samples were collected from pregnant women with abnormal fetal heart development who were found by echocardiography, and they were detected by G-banding karyotype and CMA respectively, and pathological section examination was carried out on fetal viscera samples from induced labor. Results The karyotype was 46, XN (normal chromosome, gender unknown), no abnormal karyotype was found. CMA showed that there was 1.8 Mb repeat in 15q13.2q13.3 of chromosome 15, including 7 OMIM genes such as TRPM1, KLF13, OTUD7A and CHRNA7, which were located in Bp4-Bp5 of 15q13.3. The gross specimen of fetal heart showed solid space occupying in the left ventricle, which was confirmed as rhabdomyoma by pathological examination. Conclusion CMA is recommended to detect the fetal congenital genetic abnormalities in the early stage, so as to provide prenatal diagnosis consultation for pregnant women and their families. The formation of fetal cardiac rhabdomyoma may be related to 15q13 microduplication.