标题：产前系统超声检查对染色体异常的筛查价值

      作者：郭永平 1，杨亚莉 1，马颖 1，蒋晓颖 1，苟永贤 2    宝鸡市妇幼保健院产科 1、功能科 2，陕西 宝鸡 721000

      卷次： 2022年33卷17期

      【摘要】 目的 探究产前系统超声检查对胎儿染色体异常的筛查价值。方法 选择2016年2月至2019年10月于宝鸡市妇幼保健院进行系统超声检查的8 563例孕妇作为研究对象，记录胎儿结构畸形、超声软指标异常情况，分析超声对胎儿畸形的诊断价值及结构畸形、超声软指标异常对染色体异常的筛查价值。结果 以最终随访结果作为金标准，8 563例孕妇产前超声共诊断胎儿结构畸形89例，检出率为10.39‰，漏诊12例，漏诊率为1.40‰；超声诊断胎儿畸形中，心血管系统畸形最多(28.09%)，其次为中枢神经系统(19.10%)、颜面部(17.98%)；共634例胎儿接受遗传学检查，其中38例(5.99%)存在染色体异常，包括染色体数目异常30例，染色体结构异常8例；207例超声结构及软指标异常胎儿共检出染色体异常25例，超声异常筛查染色体异常的符合度为12.08%，单发结构畸形、多发结构畸形、单发超声软指标异常、多发软指标异常诊断染色体异常的符合度分别为8.89%、22.73%、5.88%、18.18%。结论 产前系统性超声检查对胎儿结构畸形的检出率较高，胎儿结构畸形、超声软指标异常可用于筛查染色体异常胎儿。
      【关键词】 产前超声；胎儿畸形；染色体异常；超声软指标
      【中图分类号】 R445.1 【文献标识码】 A 【文章编号】 1003—6350（2022）17—2244—04

Value of prenatal systematic ultrasonography in screening chromosome abnormalities.
GUO Yong-ping 1, YANGYa-li 1, MA Ying 1, JIANG Xiao-ying 1, GOU Yong-xian 2. Department of Obstetrics 1, Functional Department 2, BaojiMaternal and Child Health Care Hospital, Baoji 721000, Shaanxi, CHINA
【Abstract】 Objective To investigate the value of prenatal systematic ultrasonography in screening chromo-some abnormalities. Methods A total of 8 563 pregnant women who received systematic ultrasonography in Baoji Ma-ternal and Child Health Care Hospital from February 2016 to October 2019 were selected. Fetal structural abnormalitiesand ultrasonographic soft index abnormalities were recorded. The diagnostic value of ultrasonography in fetal abnormali-ties, and the screening value of structural abnormalities and ultrasonographic soft index abnormalities in chromosome ab-normalities were analyzed. Results With follow-up results as the golden standard, 89 cases of fetal structural abnormal-ities were diagnosed by prenatal ultrasonography, with a detection rate of 10.39‰. Twelve cases were missed diagnosed,with a rate of 1.40‰ . In fetal malformations diagnosed by ultrasonography, cardiovascular system malformations werethe most (28.09%), followed by the central nervous system malformations (19.10%) and facial malformations (17.98%).A total of 634 fetuses underwent genetic testing, and 38 (5.99%) had chromosome abnormalities, including 30 cases ofabnormal chromosome number and 8 cases of abnormal chromosome structure. A total of 25 cases of chromosome abnor-malities were detected in the 207 fetuses with structural and ultrasonographic soft index abnormalities. The accordancerate of ultrasonographic abnormalities in screening chromosome abnormalities was 12.08%. The accordance rates of sin-gle structural abnormalities, multiple structural abnormalities, single ultrasonographic soft marker abnormalities, andmultiple soft index abnormalities in the diagnosis of chromosome abnormalities were 8.89% , 22.73% , 5.88% , and18.18%, respectively (P<0.05). Conclusion Prenatal systematic ultrasonography has a higher detection rate for fetalstructural abnormalities. Fetal structural and ultrasonographic soft index abnormalities can be used to screen fetuses withchromosome abnormalities.
      【Key words】 Prenatal ultrasonography; Fetal malformation; Chromosome abnormality; Ultrasonographic soft index