胎儿脐血染色体产前诊断临床分析336例

Clinical Analysis of 336 Cases of Prenatal Diagnosis of Fetal Chromosomal Karyotypes of Cording Blood

目的探讨妊娠中晚期产前诊断的指征、染色体异常的常见类型及脐血管穿刺术在产前诊断中的应用。方法收集有产前诊断指征的妊娠中晚期孕妇336例,抽取脐血,检查胎儿染色体核型,分析异常核型类别及其与产前诊断指征的关系。结果发现异常核型48例(14.3%),其中染色体三体30例(62.5%),包括21三体8例,18三体12例,13三体8例,22三体2例。多发性畸形组染色体三体检出率26.7%(24/90)。结论胎儿发育异常为妊娠中晚期脐血产前诊断的主要指征;染色体三体是该时期的主要异常核型;脐血管穿刺术是妊娠中晚期胎儿染色体产前诊断的主要方法。

Objective To investigate the indications of prenatal diagnosis,common types of the abnormal karyotypes during the second and third trimesters,and to assess the effectiveness of cordocentesis in the prenatal diagnosis.Methods Cordocentesis were performed on 336 pregnant women with different indications of prenatal diagnosis during their 18 to 36 gestational weeks.Fetal chromosomal karyotypes were also examined,and analysed relations between abnormal karyotype and the indications of prenatal diagnosis.Results 48 chromosomal abnormalities（14.3%） were detected.Trisomy,the main abnormality,accounted for 62.5%（30/48） of all abnormalities;there were 12 with trisomy 18,8 with trisomy 21,8 with trisomy 13,and 2 with trisomy 22.The highest trisomy chromosomal aberration rate（26.7%） was detected in the fetuses with multiple abnormalities and minor fetus anatomical abnormalities significantly increase the detectable rate of trisomy 21.Conclusion Fetal abnormalities were the main indications for prenatal diagnosis.Trisomy is the main type of chromosomal karyotype malformation during the second and third trimesters of pregnancy,and cordocentesis is an important technique for prenatal diagnosis during this period.Ultrasonographic prenatal screening offers access to find fetal chromosomal abnormalities.