袁雪英+曹炎+赖育美

【摘要】 目的：分析早孕期二維彩超胎儿颈项透明层厚度（nuchal translucency，NT）超声对胎儿畸形筛查的诊断效果，为产前胎儿排畸筛查工作提供可靠的理论依据。方法：回顾性选取2015年1月-2016年6月本院接诊的孕11～13+6周的孕妇6691例作为研究对象，其中NT值超过2.5 mm的有58例，对全部入选者进行引产或随访至胎儿出生后，探讨孕早期二维NT彩超和孕中期三维超声检查对胎儿排畸筛查的诊断效果和价值分析。结果：孕早期NT诊断发现，胎儿NT值58例异常者中有22例（37.93%）合并胎儿畸形，均选择引产；36例胎儿NT值异常孕妇在16～18周进行羊水穿刺染色体检测，发现染色体异常胎儿12例，均选择引产；对其余24例孕妇在孕中期进行超声检测发现胎儿畸形6例（10.34%），均选择引产。以出生和引产结果为金标准，随访至出生18例孕妇正常分娩出的胎儿在6691例研究对象中，孕早期阳性预测值为100%，阴性预测值为50.00%，敏感性为61.11%，特异性为100%，准确率为99.73%。结论：早孕期NT超声筛查能够及早发现胎儿畸形问题，有助于孕妇做出理性的判断，可降低孕妇身心伤害和经济损失，加强超声诊断水准，有较好的社会价值。

【关键词】 早孕期； NT超声检查； 胎儿畸形筛查

Exploration of the Clinical Application Value of NT Ultrasonography in Early Pregnancy Screening for Fetal Malformations/YUAN Xue-ying，CAO Yan，LAI Yu-mei.//Medical Innovation of China，2017，14（12）：134-137

【Abstract】 Objective：To analyze the diagnostic value of fetal nuchal translucency（NT） ultrasonography in the screening of fetal malformations at early pregnancy，and to provide a reliable theoretical basis for antenatal screening.Method：6691 pregnant women aged 11-13+6 weeks admitted to our hospital from January 2015 to June 2016 were retrospectively chosen.Among them，58 fetuses with NT value of more than 2.5 mm were followed up for all the fetuses who were enrolled or born after birth.The diagnostic value and value of two dimensional NT color Doppler ultrasound and three dimensional ultrasound in the second trimester of pregnancy in screening fetal abnormalities.Result：NT diagnosis in early pregnancy，fetal NT value in 58 cases of abnormal in 22 cases （37.93%） with fetal malformation，were selected induction，they all chose induction of labor；36 cases of abnormal fetal NT value were detected by amniocentesis at 16-18 weeks，and chromosome abnormality was found in 12 cases，they all chose induction of labor；the other 24 pregnant women were detected by ultrasound in the second trimester of pregnancy，and there were 6 cases （10.34%），they all chose induction of labor.The gold standard of birth and induced labor，based on the gold standard of birth and induced labor，18 fetuses were followed up to the normal birth of the pregnant women in the study of 6691 cases，the positive predictive value was 100%，the negative predictive value was 50.00%，the sensitivity was 61.11%，specificity was 100%，and the accuracy was 99.73%.Conclusion：NT ultrasound screening in early pregnancy can find out the problem of fetal malformation as early as possible，which is helpful for pregnant women to make rational judgment，and can reduce the physical and mental harm and economic loss of pregnant women，it is of great social value to strengthen the level of ultrasonic diagnosis.