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Abstract To study the value of chromosome microarray (CMA) technology combined with the nuchal translucency (NT) thickness screening by ultrasound of pregnant women in prenatal screening during the second trimester of pregnancy for diagnosing their fetal nasal bone defect/dysplasia. Methods：80 pregnant women with high risk of nasal bone defect/dysplasia of fetus from January 2014 to January 2021 were included in this study. All of the women were given fetal CMA technology and the fetal abnormal NT thickness screening by ultrasound. The efficiencies of the fetal CMA technology and the fetal abnormal NT screening by ultrasound for diagnosing the nasal bone deficiency/ dysplasia of fetus were analyzed. Results：There were 7 (8.8%) cases with abnormal karyotype by CMA, which included 2 cases with arr ［hg19］ 5Q23.1 (118,253,123-120,744,968)×3, 2.4Mb variation, 1 case with arr ［hg19］ 15q13.3 (31,967, 496-32, 444,043)×1, 1 case with 476.5 KB, arr ［hg19］ 16q23.3 (83,741, 751-84, 087,310) ×3, 345.5Kb, and 3 cases with arr ［hg19］ 15Q11.2 (24,940, 792-25,282,886)× 3,342 Kb. The area under curve and the specificity of CMA combined with NT by ultrasound for diagnosing nasal bone defect/ dysplasia of fetus were 0.923 and 97.4%, which had high diagnostic efficacy. Conclusion：CMA technology combined with prenatal ultrasonic NT detection for screening fetal nasal bone defect/dysplasia of the pregnant women during the second trimester of pregnancy has higher diagnostic value.
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