某院早孕期超声筛查对胎儿中枢神经系统畸形诊断结果调查  

Diagnostic results of fetal central nervous system malformation by ultrasound examination in early pregnancy of a Hospital

作　　者：阮飞娜[1] 姬红丽[1] 弓瑜[1] 王卫平[1] 封华[1] 李娟娟[1] RUAN Fei-na;JI Hong-li;CONG Yu;WANG Wei-ping;FENG Hua;LI Juan-juan(Department of Ultrasound,Zhengzhou Maternal and Child Health Care Hospital,Zhengzhou 450012,China)

机构地区：[1]郑州市妇幼保健院超声科,郑州450012

出　　处：《医药论坛杂志》2024年第7期781-784,F0003,共5页Journal of Medical Forum

摘　　要：目的调查郑州市妇幼保健院早孕晚期即孕11~13^(+6)周规范化超声筛查胎儿中枢神经系统(CNS)畸形结果,评价诊断效能。方法选择2020年4月至2022年12月在郑州市妇幼保健院接受孕11~13^(+6)周免费NT筛查的孕妇25362例,进行腹部早孕期规范化超声检查,对发现的CNS异常病例结合阴道彩超检查,以随访结果为金标准评价诊断效能。结果25362例孕妇中,早孕期超声筛查阳性病例128例,CNS异常19例:包括无脑畸形及露脑畸形8例,脑膜膨出2例,全前脑4例,脊柱裂2例,脊柱排列异常3例。其中误诊1例(1/19),超声诊断为全前脑于孕20周被证实为小脑发育不良;早孕期规范化超声筛查诊断CNS异常的符合率94.73%(18/19)。早孕期超声检查CNS未发现明显异常,中晚孕期系统超声筛查发现异常13例,分别为室管膜囊肿4例,脑积水2例,叶状全前脑1例,胼胝体发育异常1例,Dany-Walker综合征1例,巨大脉络丛囊肿2例,蛛网膜囊肿2例。结论早孕期规范化超声筛查所检出的胎儿中枢神经系统畸形均为严重异常,可为临床早期采取干预措施提供依据;但对中孕期发育完成的结构及CNS迟发异常的诊断,仍需要中晚孕期系统超声检查。Objective To investigate the results of standardized ultrasound screening for fetal central nervous system(CNS)malformations in the first trimester(11-13^(+6)weeks)in Zhengzhou Maternal and Child Health Care Hospital,to evaluate the clinical diagnostic efficiency.Methods Totally 25362 pregnant women who underwent the free NT screening during 11-13^(+6)weeks in Zhengzhou Maternal and Child Health Care Hospital from April 2020 to December 2022.Routine transabdominal ultrasound scans were performed according to standards,transvaginal ultrasound examinations were performed in abnormal cases,the follow-up results were used as the gold standard to evaluate the diagnostic efficacy.Results Among 25362 pregnant women,there were 128 positive cases in the first trimester ultrasound screening,19 cases with CNS abnormalities:Including 8 cases of anencephaly or exencephaly,2 cases of meningocele,4 cases of holoprosencephaly,2 cases of spina bifida,and 3 cases of abnormal spinal alignment.Among them,1 case was misdiagnosed(1/19),holoprosencephaly diagnosed by ultrasound was confirmed as cerebellar dysplasia at 20 weeks;The coincidence rate of standardized ultrasonographic screening in detection of fetal CNS malformations in the first trimester was 94.73%(18/19).No significant abnormalities were found in the first trimester,while 13 cases were turned out to be abnormal in the second and third trimesters,including 4 cases of ependymal cyst,2 cases of hydrocephalus,1 case of lobar holoprosencephaly,1 case of abnormal development of the corpus callosum,1 case of Dany-Walker syndrome,2 cases of giant choroid plexus cyst,and 2 cases of arachnoid cyst.Conclusion Fetal central nervous system malformations detected by standardized ultrasound screening in the first trimester are all serious abnormalities,which can provide a basis for early clinical intervention measures.However,the diagnosis of fully developed structures and late-onset CNS abnormalities in the second and third trimesters still requires systematic ultrasound examination.

关 键 词：腹部彩超 腔内彩超 产前 孕11~13^(+6)周 规范化超声筛查 胎儿中枢神经系统畸形 

分 类 号：R445.1[医药卫生—影像医学与核医学]