Cytogenetic Analysis for Fetal Chromosomal Abnormalities by Amniocentesis:Review of Over 40,000 Consecutive Cases in a Single Center  

作　　者：Zhang Shuo Yin Ming Xu Jian-Zhong Lei Cai-Xia Wu Jun-Ping Sun Xiao-Xi Zhang Yue-Ping 

机构地区：[1]Shanghai Ji Ai Genetics and IVF Institute,Obstetrics and Gynecology Hospital,Fudan University,Shanghai 200011,China [2]Key Laboratory of Female Reproductive Endocrine Related Diseases,Obstetrics and Gynecology Hospital,Fudan University,Shanghai 200011,China

出　　处：《Reproductive and Developmental Medicine》2017年第2期84-88,共5页生殖与发育医学（英文版）

摘　　要：Background:The aim of this study was to retrospectively investigate the 18-year experience of prenatal diagnosis of fetal karyotype analysis by amniocentesis.Methods:In this study,the authors reviewed the cytogenetic results of 40,208 fetuses with indications for amniocentesis enrolled from December 1998 to December 2015.Cytogenetic analysis of amniotic fluid was performed in all these pregnancies.Eight indications for amniocentesis were included.The detection rate and distribution of abnormal karyotypes were observed in each indication.Results:Among all these samples,abnormal maternal serum screening test was the most common indication for amniocentesis(17,536,43.67%),followed by advanced maternal age(11,734,29.18%),abnormal ultrasound findings(5,328,13.25%),and required by pregnant women(2,557,6.36%).Chromosomal abnormality was detected in 1,349(3.36%)samples,63.01%of the abnormalities were numerical,and 36.99%were structural.The detection rates of abnormal karyotype were 55.60%in one of the couple with chromosomal abnormality,4.43%in the pregnant women with pathological ultrasound finding,2.83%in the pregnant women with advanced age,and 2.73%in women with abnormal maternal serum screening tests.Of the fetuses with chromosome aberrations,680(50.41%)had trisomy 13,trisomy 18,or trisomy 21,and 138(10.23%)had sex chromosome disorder.The other 531 abnormal samples included translocation,mosaicism,inversion,deletion,addition,and marker chromosome.Conclusions:Cytogenetic analysis,therefore,remained an effective approach to decrease the birth defects of fetuses with indications for amniocentesis.These results could provide meaningful suggestions for clinical genetic consulting and prenatal diagnosis.

关 键 词：AMNIOCENTESIS Chromosomal Aberration CYTOGENETIC Genetic Consulting Prenatal Diagnosis 

分 类 号：R71[医药卫生—妇产科学]