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Abstract To investigate the value of chromosome microarray（CMA) technique combined with karyotype analysis for prenatal genetic diagnosis of fetuses with various abnormalities. Methods: 80 pregnant women who underwent invasive prenatal diagnosis and had abnormal genetic results were selected as the research subjects from January to December 2019. The diagnostic indications mainly included the structural abnormalities and abnormal soft indicators by ultrasound, and the screening high-risk, the no-invasive prenatal screening（NIPT) positive, the pregnant women with advanced age, etc. Both karyotyping and CMA testing were all given to these women during the same gestational weeks, and the detection rates and differences of various high-risk situation of the fetuses of the women by which were analyzed. Results: Among the 27 women with abnormal fetal structure and soft index by ultrasound, the positive women were detected by karyotype and CMA were 11 cases and 24 cases, respectively, and 20 women had no completely consistent of results by karyotype and CMA. In the women with normal results by karyotype, 15 women had microdeletion/microduplication of chromosome were detected by CMA additionally. In the women with normal results by CMA, 1 case with polymorphism of chromosome (46, XN,1qh+) and 2 cases with chromosomal structural variations (45, XN, der (13;14) (q10; Q10), and 46, XN, inv (9) (p12q13)) were found by karyotype analysis additionally. In 22 women with the histories of abnormal pregnancy, 15 women with submicrostructural aberrations (22q11.21 microdeletion syndrome, 16p11.2 microdeletion syndrome, Xp22.31 microdeletion syndrome, etc.), and with the heterozygotic deletion/ uniparental diploid (LOH/UPD) were detected by CMA additionally, and 4 cases with polymorphism of chromosome by CMA. In addition, karyotype combined with CMA also could detect the balance aberrations, submicroscopic copy number variation, LOH/UPD, and chimerism, and other abnormal chromosome of the pregnant women with advanced age, with serological screening high-risk situation, with NIPT screening high-risk situation, with phenotypic/chromosomal abnormalities of one spouse, or with inbreeding high-risk situation. Conclusion: Karyotype analysis combined with CMA used in the pregnant women with different prenatal diagnosis indications can efficiently detect their balance aberrations, micro-deletion/micro-duplication, LOH/UPD, lowproportion mosaicism, etc., which can provide scientific evidences for evaluating the prognosis of their fetus and their reproduction.
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