产前超声诊断孕11～13+6周胎儿肢体畸形的前瞻性研究

摘要

Objective To explore the diagnostic value in fetal limb abnormalities in 11 to 13+6 weeks of gestation on prenatal ultrasonography.Methods A total of 33 981 fetuses of 33 824 pregnant women including 157 twin pregnancy underwent nuchal translucency thickness (NT) ultrasound examination in our hospital from September 2012 to June 2016 prospectively.Meanwhile,the fetal limbs were meticulously screened using a systematic continuous sequence approach.We recorded the maternal age,gestational weeks,crown rump length (CRL),nuchal translucency thickness (NT),types of limb abnormalities and other abnormalities.Up to induced labor or birth,all fetuses were followed up and compared with the findings of ultrasound.Results Fetal limb deformities were found in 101 cases in 23 160 fetuses who were followed-up by the prenatal ultrasonography in 11 to 13+6 weeks of gestation to the induced labor or birth.Among deformed 101 cases in 172 deformed limbs,82 fetuses (82/23 160) were observed by ultrasound in 153 deformed limbs.The rate of fetal limb deformity was 0.44％ (101/23 160) and rate of accuracy on ultrasound was 81.2％ (82/101).The underdiagnosed 19 fetuses on ultrasound (18.8％,19/101) had palms or feet deformities in 21 sites,including 10 talipes equinovarus,5 polydactylism,1 ectodactyle,2 digital dysplasia,and 1 syndactylism.The sensitivity,specificity,positive predictive value,and negative predictive value of ultrasound in diagnosis of fetal limb deformities in 11 to 13+6 weeks were 81.2％ (82/101),100.0％ (82/82),100.0％ (82/82),99.9％ (23 059/23 078).Conclusion Prenatal ultrasonography in systematic continuous sequence approach is helpful and effective for fetal limb abnormalities in 11-13+6 weeks of gestation.Because underdiagnosis is unavoidable in fetuses with deformities in feet and palms on ultrasonography,orderly and normalized screening is important.%目的 探讨产前超声对孕11～13+6周胎儿肢体畸形的诊断价值.方法 采用前瞻性研究法,对2012年9月至2016年6月在本院进行NT超声检查的33 824例孕妇(其中双胎157例)的33 981例胎儿,采用连续顺序追踪法对胎儿四肢结构进行筛查.对超声检查发现胎儿肢体畸形者,记录孕妇年龄、孕周、胎儿头臀长、NT值、肢体畸形的类别以及其他合并畸形等,随访至胎儿被引产或胎儿出生后,将超声检查结果与临床随访结果进行比较分析.结果 共23 160例胎儿获得随访结果,其中101例胎儿存在肢体畸形,共计172处肢体畸形,肢体畸形发生率0.44％(101/23 160).孕11～13+6周超声检查准确诊断82例(81.2％,82/101)胎儿的153处肢体畸形;漏诊19例(18.8％,19/101)胎儿的21处肢体畸形,所有漏诊均为掌足或指趾畸形,其中马蹄内翻足10例、多指3例、多趾2例、缺指1例、指发育不良2例、并指畸形1例.孕11～13+6周超声检查诊断胎儿肢体畸形的敏感性、特异性、阳性预测值、阴性预测值分别为81.2％(82/101)、100.0％(82/82)、100.0％(82/82)、99.9％(23 059/23 078).结论 规范的孕11 ～ 13+6周产前超声检查能够对胎儿严重肢体畸形做出相对准确的诊断,在胎儿畸形早期诊断中发挥重要价值,但是掌足或指趾畸形不可避免地会出现漏诊,形成连续、规范超声筛查体系有助于减少漏诊.