胎儿骨骼四肢系统畸形与染色体异常相关性研究  

Correlation between fetal skeletal and limb system malformation and chromosome abnormality

作　　者：谢小雷[1] 李付广[1] 谭卫荷[1] 尹卫国 汤素环[1] XIE Xiaolei;LI Fuguang;TAN Weihe;YIN Weiguo;TANG Suhuan(Prenatal Diagnosis Center,the Sixth Affiliated Hospital of Guangzhou Medical University/Qingyuan People′s Hospital,Qingyuan,Guangdong 511518,China)

机构地区：[1]广州医科大学附属第六医院/清远市人民医院产前诊断中心,广东清远511518

出　　处：《现代医药卫生》2019年第9期1349-1351,共3页Journal of Modern Medicine & Health

摘　　要：目的探讨胎儿骨骼四肢系统畸形与染色体异常的相关性。方法收集2013年1月至2018年8月该院产前诊断中心就诊、胎儿骨骼四肢系统发育异常的孕妇病例进行回顾性分析。结果 33例骨骼四肢系统发育异常胎儿中,共检出9例(27.27%)异常核型,包括4例18-三体综合征和5例染色体结构异常。单一骨骼四肢系统畸形13例,异常核型1例。骨骼伴随其他系统畸形20例,异常核型8例。多系统畸形染色体异常核型率高于单一骨骼四肢系统畸形,差异有统计学意义(χ~2=4.146 1,P<0.05)。检出的9例异常核型集中于孕早、中期(≤28周)。结论染色体数目或结构改变是导致胎儿骨骼四肢系统发育异常的重要因素,且骨骼伴随其他系统畸形的染色体异常检出率高于单一骨骼四肢系统畸形。Objective correlation between fetal bone limb system malformation and chromosomal abnormalities. Methods A retrospective analysis of pregnant women with prenatal diagnosis centers and abnormal fetal limbs dysplasia from January 2013 to August 2018 was conducted. Results 33 fetuses with abnormal skeletal limbs,9 (27.27%) abnormal karyotypes were detected,including 4 cases of 18-trisomy and 5 cases of chromosome structural abnormalities.There were 13 cases of single bone limb system malformation and 1 case of abnormal karyotype.The skeleton was accompanied by 20 other malformations and 8 abnormal karyotypes.The karyotype rate of multiple system malformation chromosomal abnormalities was higher than that of single bone limb system,and the difference was statistically significant (χ 2 =4.146 1, P <0.05).The 9 abnormal karyotypes detected were concentrated in the early and mid-pregnancy (≤ 28 weeks). Conclusion The number of chromosomes or structural changes is an important factor leading to the abnormal development of the fetal limbs,and the detection rate of chromosomal abnormalities of bones with other system malformations is higher than that of single bone limbs.

关 键 词：骨骼 畸形 染色体核型 18-三体 多发畸形 孕早中期 

分 类 号：R394[医药卫生—医学遗传学]