孕早期胎儿上肢畸形与染色体异常相关性研究  

Correlation Between Fetal Upper Limb Deformity and Chromosome Abnormality in First-trimester Screening

作　　者：项文静 张燕[1] 唐慧荣 朱湘玉[1] 朱雨捷 顾燕[1] Xiang Wenjing;Zhang Yan;Fang Huirong;Zhu Xiangyu;Zhu Yujie;Gu Yan(Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China)

机构地区：[1]南京大学医学院附属鼓楼医院妇产科产前诊断中心,南京市210008

出　　处：《中国超声医学杂志》2023年第7期808-811,共4页Chinese Journal of Ultrasound in Medicine

基　　金：江苏省妇幼保健协会科研项目(No.FYX201903)。

摘　　要：目的探讨孕早期胎儿上肢畸形与染色体异常的相关性。方法选择妊娠11~136/7周超声筛查检出胎儿上肢发育异常的41例孕妇,其中35例单胎、5例为双胎之一上肢畸形、1例为双胎均有上肢畸形,共42例胎儿纳入本研究。记录孕妇年龄、胎儿颈后透明层厚度(NT)增厚/正常、单胎/双胎、单发/多发畸形、胎儿上肢畸形类型等信息,随访其引产结果及染色体检查结果。胎儿NT值≥3 mm为增厚,<3 mm为正常。上肢畸形类型分为4类:桡骨短小14例、多指10例、肢体缺如5例、姿势异常13例。所有胎儿均进行染色体核型分析,按染色体检查结果分为正常组(25例)、异常组(17例)。结果单因素分析显示,单胎/双胎因素(P=0.030)、NT增厚/正常(P=0.024)在两组间差异有统计学意义;年龄(P=0.094)、单发/多发畸形(P=0.210)、胎儿上肢畸形类型(P=0.145)在两组间差异无统计学意义。染色体检查异常组中有13例(76.5%,13/17)为18-三体,因此,孕早期胎儿上肢畸形与18-三体密切相关。结论孕早期超声筛查可以检出多种类型的胎儿上肢畸形,其中单胎/双胎因素及NT增厚与染色体异常具有显著相关性,且孕早期胎儿上肢畸形与18-三体密切相关。孕早期超声联合遗传学检测有利于精准判断胎儿预后、指导妊娠选择。Objective To investigate the correlation between fetal upper limb deformity and chromosomal abnormalities in the first trimester.Methods 41 pregnant women with fetal upper limb deformity detected by ultrasound screening in our hospital were enrolled.Among them,35 cases were singleton,5 were twins with upper limb deformity,and 1 case were twins with upper limb deformity.A total of 42 fetuses were included into this study.Maternal age,nuchal translucency(NT)thickening/normal,singleton/twin,single/multiple deformities,and type of fetal upper limb deformities were collected.The results of labor induction and chromosome examination were followed up.Fetal NT≥3 mm was considered to be thickened,and NT<3 mm was considered normal.There were 4 types of upper limb deformity:14 cases of short radius,10 cases of polydactyly,5 cases of limb absence,and 13 cases of postural abnormality.All fetuses underwent chromosome karyotype analysis,and were divided into the normal group(25 cases)and abnormal group(17 cases)according to the results of chromosome examination.Results Univariate analysis showed that singleton/twin factors(P=0.030)and NT thickening/normal(P=0.024)were significantly different between the two groups.There were no significant differences in age(P=0.094),single/multiple deformities(P=0.210)and type of fetal upper limb deformities(P=0.145)between the two groups.There were 13 cases(76.5%,13/17)of the chromosome abnormality group with trisomy 18,so the upper limb deformity in early pregnancy is closely related to trisomy 18.Conclusions Ultrasound screening in early pregnancy can detect various types of fetal upper limb deformities,singleton/twin factors and NT thickening are significantly correlated with chromosomal abnormalities,and fetal upper limb deformity in early pregnancy is closely related to trisomy 18.Ultrasound combined with genetic testing in early pregnancy is beneficial to accurately judge fetal prognosis and guide pregnancy selection.

关 键 词：上肢畸形 胎儿 孕早期超声筛查 胎儿染色体异常 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.53[医药卫生—诊断学]