妊娠中期染色体微阵列分析联合超声胎儿颈项透明层厚度诊断胎儿鼻骨缺失/发育不良效能  

Efficiency of chromosome microarray technology combined with the nuchal translucency thickness screening by ultrasound of pregnant women in prenatal screening during the second trimester of pregnancy for diagnosing their fetal nasal bone de-fect/dysplasia

作　　者：毛筱琳 丁玲燕 周键 钱小华 MAO Xiaolin;DING Lingyan;ZHOU Jian;QIAN Xiaohua(The Ninth People's Hospital of Suzhou,Jiangsu Province,215200)

机构地区：[1]江苏省苏州市第九人民医院,215200

出　　处：《中国计划生育学杂志》2022年第5期1163-1166,共4页Chinese Journal of Family Planning

摘　　要：目的:探讨妊娠中期高危因素孕妇染色体微阵列分析(CMA)联合产前超声筛查诊断胎儿鼻骨缺失/发育不良价值.方法:2014年1月—2021年1月本院产前检查高危因素孕妇80例,行羊水CMA核型筛查及超声胎儿颈项透明层厚度(NT)异常筛查,分析两种方法诊断胎儿鼻骨缺失/发育不良效能.结果:80例中检出CMA核型异常7例(8.8%),其中arr[hg19]5q23.1(118,253,123-120,744,968)×3,2.4Mb变异2例,arr[hg19]15q13.3(31,967,496-32,444,043)×11例,476.5kb、arr[hg19]16q23.3(83,741,751-84,087,310)×3,345.5Kb1例,arr[hg19]15q11.2(24,940,792-25,282,886)×3,342kb3例,CMA检查联合超声NT检测诊断鼻骨缺失/发育不良效能较高(曲线下面积0.923),特异度达97.4%.结论:CMA技术联合产前超声NT检测筛查高危因素孕妇妊娠中期胎儿鼻骨缺失/发育不良具有较高诊断价值.Objective: 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] 5 Q23.1(118,253,123-120,744,968)×3, 2.4 Mb variation, 1 case with arr [hg19] 15 q13.3(31,967, 496-32, 444,043)×1, 1 case with 476.5 KB, arr [hg19] 16 q23.3(83,741, 751-84, 087,310) ×3, 345.5 Kb, and 3 cases with arr [hg19] 15 Q11.2(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.

关 键 词：产前筛查 骨缺失/发育不良 染色体微阵列分析 染色体异常 超声胎儿颈项透明层厚度 诊断效能 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]