王丽 马明霞 望丹丹 佘芹 谭卫荷

【摘要】 目的：研究超聲测量胎儿颈项透明层厚度（NT）与胎儿染色体异常的关系，为孕期产前检查提供参考依据。方法：回顾性分析2016年1月-2020年3月在本院产检，妊娠11～13+6周超声NT值≥2.5 mm的811例孕妇的资料。按NT厚度将孕妇分为试验组308例（NT值≥3 mm）和对照组503例（3 mm>NT值≥2.5 mm）。分析对照组和试验组胎儿染色体异常种类和检出情况;比较两组胎儿染色体异常情况。结果：对照组中非整倍体染色体22例，其中21-三体12例，13-三体1例，47，XXX三体6例，45，X嵌合体1例，罗氏易位1例，Y倒位1例。试验组中非整倍体染色体62例，其中21-三体20例，18-三体12例，13-三体9例，47，XXX三体6例，45，X单体3例，性染色体嵌合体3例，假性嵌合体1例，罗氏易位1例，染色体重复4例，衍生染色体3例。试验组染色体异常率明显高于对照组，差异有统计学意义（P<0.05）。结论：B超测量胎儿颈项厚度与染色体异常发生有关，开展此项研究有利产前诊断，早期发现胎儿异常。

【关键词】 胎儿颈项厚度 染色体 筛查 产前诊断

Analysis of Prenatal Diagnosis Results with Fetal Nuchal Translucency Thickening in 811 Pregnant Women/WANG Li， MA Mingxia， WANG Dandan， SHE Qin， TAN Weihe. //Medical Innovation of China， 2021， 18（24）： -153

[Abstract] Objective： To study the relationship between fetal nuchal transparent layer thickness （NT） measured by ultrasound and fetal chromosome abnormalities， so as to provide reference basis for prenatal examination during pregnancy. Method： The data of 811 pregnant women with ultrasonic NT value ≥2.5 mm at 11 to 13+6 weeks of gestation were retrospectively analyzed from January 2016 to March 2020 in our hospital. According to the thickness of NT， pregnant women were divided into experimental group 308 cases （NT value ≥3 mm） and control group 503 cases （3 mm >NT value ≥2.5 mm）. The types and detection of fetal chromosome abnormalities in the control group and the experimental group were analyzed. The chromosomal abnormalities of two groups were compared. Result： In the control group， there were 22 cases of aneuploidy， including 12 cases of trisomy 21-trisomy， 1 case of trisomy 13-trisomy， 6 cases of trisomy 47 and XXX， 1 case of chimera 45 and X，

1 case of Roche translocation and 1 case of Y inversion. In the experimental group， there were 62 cases of aneuploid chromosomes， including 20 cases of trisomy 21-trisomy， 12 cases of trisomy 18-trisomy， 9 cases of trisomy 13-trisomy， 6 cases of trisomy 47 and XXX， 3 cases of X monomer 45 and X， 3 cases of sex chromosome chimerism， 1 case of pseudochimerism， 1 case of Roche translocation， 4 cases of chromosome duplication， and 3 cases of derived chromosomes. The rate of chromosome abnormality in the experimental group was significantly higher than that in the control group， the difference was statistically significant （P<0.05）. Conclusion： The measurement of fetal neck thickness by B-ultrasound is related to the occurrence of chromosome abnormalities， this study is conducive to prenatal diagnosis and early detection of fetal abnormalities.

[Key words] Fetal neck thickness Chromosome Screening Prenatal diagnosis

First-author’s address： The Sixth Affiliated Hospital of Guangzhou Medical University， Qingyuan People’s Hospital， Qingyuan 511500， China

doi：10.3969/j.issn.1674-4985.2021.24.037

胎儿颈项透明层（nuchal translucency， NT）早在1992年被用来描述早孕期胎儿超声颈后部皮下组织正中矢状面厚度，并认为NT增厚可能与胎儿罹患染色体非整倍体疾病相关[1]。胎儿颈项透明层形成主要与皮下淋巴液的聚集有关。胎儿早期发育过程中，淋巴系统尚未发育完全，淋巴液在颈部循环发生障碍导致其回流阻滞，超声显示暂时性颈项透明层[2-3]。胎儿颈项透明层在孕早期正常厚度一般在3.0 mm以下;随着孕周的增加，胎儿淋巴循环系统逐渐发育，其颈部的淋巴液会流向颈静脉内，胎儿颈部淋巴液减少透明层也会逐渐消失[4]，妊娠11～13+6周时，NT≥3 mm视为异常，在孕早期并不是所有NT值异常的胎儿都一定会有问题。……