摘要
目的观察孕中晚期高危妊娠患者脐带血中的染色体异常核型及多态性。方法 593例孕中晚期高危妊娠患者【高龄组(年龄≥35岁)92例,非高龄组(年龄<35岁)501例】,于孕17~38周时接受脐带穿刺,抽取脐血,检查染色体核型并观察染色体多态性。结果 593例受检者脐带血中染色体核型异常者40例(检出率6.75%),其中高龄组16例(检出率17.39%)、非高龄组24例(检出率4.79%),两组染色体核型异常检出率相比,P<0.05;高龄组21-三体综合征11例(检出率11.96%)、非高龄组6例(检出率1.2%),两组相比,P<0.05。593例受检者脐带血中发现染色体多态者25例(检出率4.21%),其中inv(9)5例(占0.84%)、Y染色体多态11例(占1.85%)、9号和16号次缢痕变异3例(占0.51%)、D/G组染色体多态6例(占1.18%)。结论在孕中晚期高危妊娠患者中,脐带血中染色体核型异常检出率达6.75%,染色体多态性检出率达4.21%;21-三体综合征是最主要和常见的染色体异常核型,尤其多见于高龄高危妊娠患者;脐带血中染色体多态者以Y染色体多态最多见。孕中晚期高危妊娠患者脐带血染色体异常核型及多态性观察有助于胎儿染色体病的产前诊断。
Objective To observe the chromosome karyotype and the polymorphism of umbilical cord blood in patients with high risk in middle and late pregnancy.Methods Cordocentesis was performed in 593 pregnant women[501 cases in the elder group(age>35 years)and 92 cases in the non-elder group(age<35 years)]during the 17 to 38 gestational weeks to acquire the umbilical cord blood,which was used to examine the fetal chromosomal karyotypes and to observe the polymorphism.Results Forty abnormalities in 593 samples(6.75%)were checked out including 16 in the elder group group(17.39%)and 24 in the non-elder group(4.79%).There was a statistically significant difference in the detection rate of chromosomal karyotype abnormalities between these two groups(P<0.05).Eleven and 6 cases of trisomy 21 were detected in elder and non-elder groups,respectively,with statistically significant difference between these two groups(P<0.05).Twenty-five cases of chromosomal polymorphism in 593 samples(4.21%)were identified including 5 cases of inv(9)(0.84%),11 cases of Y chromosomal polymorphism(1.85%),3 cases of secondary constriction variation of No.9(0.51%)and No.16,and 6 cases of chromosome polymorphism in the group D/G(1.18%).Conclusion In high-risk patients of middle and late stages of pregnancy,the detection rate of chromosomal karyotype abnormality and chromosome polymorphism in umbilical cord blood is 6.75%and 4.21%,respectively.Trisomy 21 is the main and common abnormal karyotype,especially in elderly high-risk pregnancy patients.The most common chromosome polymorphism in umbilical cord blood is Y chromosome polymorphism.Observation of the chromosome karyotype and the polymorphism of umbilical cord blood in patients with high risk in middle and late pregnancy is helpful to prenatal diagnosis of fetal chromosomal disease.
作者
罗艳
马丽爽
孙艳美
卢鹤真
尹璐
李亚丽
LUO Yan;MA Lishuang;SUN Yanmei;LU Hezhen;LU Lu;LI Yali(Hebei General Hospital,Shijiazhuang 050051,China)
出处
《山东医药》
CAS
2018年第35期19-22,共4页
Shandong Medical Journal
基金
河北省科学技术研究与发展计划项目(17277728D)
关键词
染色体核型
染色体多态性
高危妊娠
高龄孕妇
脐带血
产前诊断
胎儿染色体病诊断
karyotype
chromosomal polymorphism
high-risk pregnancy
elder pregnant women
umbilical cord blood
prenatal diagnosis
diagnosis of fetal chromosomal disease
