基因芯片技术应用于颈项透明层增厚病例中的价值研究

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Abstract Objective To explore clinical application value of chromosome microarray analysis (CMA) in the thickening of nuchal translucency (NT) and the difference of detection of copy number variants (CNVs). Methods A retrospective analysis was conducted from December 2017 to December 2019. Ultrasound prompted “thickening of the transparent layer of the fetal neck”. A karyotype analysis and CMA chip detection of 185 pregnant women with singletons were performed at Maternal and Child Health Hospital of Inner Mongolia Autonomous Region. Results CMA test results: a total of 185 cases of NT thickening, 59 cases with chromosomal abnormalities, the incidence rate of chromosomal abnormalities was 31.89%(59/185). Compared with karyotype analysis, the detection rate of CNVs increased by 10.81%(20/185), and the detection rate of pathogenic CNVs increased by 7.03%(13/185). Chromosome karyotype analysis results: a total of 185 cases of NT thickening, 39 cases with abnormal karyotypes, the incidence rate of chromosomal abnormalities was 21.08%(39/185). There were two cases with abnormal chromosome structure: one case of 46, XN, del (18) (P11) and 18p11.32p11.2 deletion in CMA was 14.94 Mb, P was the same case. One case of 46, XN, t (15; 17) (Q15; q25) [4]/46, XN [122], CMA was 46, XN. Conclusion Compared with karyotype analysis technology, CMA technology has the advantage of high genome-wide resolution of CMA technology. It can increase the detection rate of microdeletions/microduplications and the detection rate of pathogenic CNVs. Unable to recognize balanced rearrangements (translocation/inversion/insertion), CMA technology can not replace karyotype analysis technology for diagnosis. The existence of unclear clinical significance (VOUS) of CMA detection will bring difficulties to the interpretation of CMA.

Key words： Chromosome microarray analysis Nuchal translucency thickening Prenatal diagnosis Microdeletion/microduplication

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	DING Xiaorui1* LIU Aiju2*▲ ZHANG Wei1 ZHANG Junhui2

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DING Xiaorui1* LIU Aiju2*▲ ZHANG Wei1 ZHANG Junhui2. Study on the value of gene chip technology in the case of thickening of the neck transparent layer[J]. 中国医药导报, 2020, 17(36): 114-118.

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http://www.yiyaodaobao.com.cn/EN/ OR http://www.yiyaodaobao.com.cn/EN/Y2020/V17/I36/114

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