The role of chromosomal micro-array analysis in prenatal diagnosis of non-immune hydrops fetalis

Abstract

Objective To analyze the incidence of chromosome abnormality and copy number variation(CNV) in non-immune hydrops fetalis, and discuss the role of chromosomal micro-array analysis(CMA) in prenatal diagnosis of non-immune hydrops fetalis. Methods Forty-six cases who were diagnosed by ultrasound as Schridde syndrome were chosen. They were not caused by the immune factors judging through detecting the maternal and fetal Rh blood type, anti-D antibody, ABO blood type and other related antibody. We also calculated the ratio of fetuses with chromosome abnormality and CNV, and then analyzed their clinical data. Results Twnty-five (54.35%) cases with chromosome abnormality and CNV were confirmed by CMA, including 7(15.22%) cases of X monomer (45, XO), 3(6.52%) cases of Trisomy 21, 2(4.35%) cases of Trisomy 18, 1(2.17%) cases of XXX Syndrome (47, XXX) and 12(26.09%) cases with chromosomal micro deletion or micro duplication. Conclusion Chromosome abnormality is one of the important causes leading to non-immune hydrops fetalis. Among them, X monomer, Trisomy 21 and Trisomy 18 are the three main factors that cause non-immune hydrops fetalis. For the case of non immune hydrops fetalis, CMA can substitute the use of karyotype analysis, while promoting identification of the etiology and treatment in time. Key words: Non-immune; Hydrops fetalis; Karyotype analysis; Chromosomal micro-array