【摘要】 目的探讨胎儿异常核型检出率与不同产前诊断指征的相关性,研究染色体多态性与胎儿生长发育的关系。方法 1626例具有侵入性产前诊断指征的单胎孕妇,超声引导下取绒毛、羊水或脐血进行细胞培养、染色体核型分析,其中绒毛标本216例,羊水标本974例,脐带血标本436例。结果绒毛穿刺成功率100%(216/216)、培养成功率99.07%(214/216);羊水及脐带血穿刺、培养成功率均为100%,术后妊娠丢失率0.18%(3/1626)。培养成功的1624例标本中检出异常核型90例,检出率为5.54%(90/1624)。早孕期联合筛查唐氏高风险组异常核型的检出率最高,占14.85%(30/202),其后为胎儿结构异常组8.54%(41/480)、高龄孕妇组3.23%(4/124)、双亲染色体异常组3.23%(1/31)、超声软标记物组2.93%(6/205)、中孕期血清学筛查唐氏高风险组1.86%(8/430),其他组无异常核型检出。异常核型中,21-三体检出率最高,占1.66%(27/1624),其次为18-三体,占0.68%(11/1624)。早孕期联合筛查唐氏高风险与胎儿结构异常组异常核型以21-三体、18-三体等染色体数目异常为主,两组非整倍体检出率占全部非整倍体总数的89.47%(51/57)。高龄孕妇、双亲染色体异常、超声软标记物及中孕期血清学筛查唐氏高风险组异常核型主要以染色体结构异常为主。早孕期联合筛查与中孕期血清学唐氏筛查高风险组异常核型检出率与两组间21-三体检出率差异均有统计学意义(P=0.001与P=0.000)。检出染色体多态核型180例,占11.08%(180/1624),其中Yqh+74例,inv(9)37例,1qh+23例,Yqh-16例,其他多态核型30例。180例多态核型中发现15例较严重胎儿畸形,多态核型胎儿畸形发病率为8.33%(15/180),畸形胎儿的核型主要为46,XYqh+、46,XN,inv(9)、46,XN,1qh+、46,XYqh-。结论对具有产前诊断指征的胎儿进行产前核型分析有重要意义,早孕期联合筛查唐氏高风险和胎儿结构异常是主要的产前诊断指征,高龄孕妇、超声软标记物、双亲染色体异常、中孕期血清学筛查唐氏高风险是常见的产前诊断指征。染色体多态性与胎儿的生长发育有相关性,临床咨询时应引起高度重视。更多还原

【Abstract】 Objectives To investigate the correlation between the detection rates of fetal chromosomal abnormality and the indications of invasive procedure and to study the association between chromosomal polymorphism and fetal growth.Method A total of 1626 cases of singleton pregnancies with indications for invasive procedure were selected,in which the chorionic villi,amniotic fluid or umbilical cord blood sampling were collected respectively from 216,974 and 436cases under ultrasound localization.ResultsThe success rates of CVS and cell culture were 100%(216/216)and 99.07%(214/216)respectively.AC and umbilical cord sampling and cell culture success rates were 100%.The loss rate after invasive procedure was 0.18%(3/1626).Ninety cases were diagnosed as abnormal karyotypes,with the detection rate of 5.54%(90/1624).The detection rate of abnormal karyotypes was the highest in the first trimester combinational test for Down’s syndrome(DS)high-risk group,accounting for 14.85%(30/202),followed by fetal structural abnormality group 8.54%(41/480),maternal age group 3.23%(4/124),parental chromosome abnormality group 3.23%(1/31)and soft marker group 2.93%(6/205).The second trimester serum screening for DS high-risk group was 1.86%(8/430)and the other groups had no abnormal karyotype detected.The detection rate of Trisomy-21 was the highest in abnormal karyotype,accounting for 1.66%(27/1624),followed by Trisomy-18,accounting for 0.68%(11/1624).Abnormal karyotype was mainly the chromosomal number abnormalities in the high-risk of first trimester combinational test for DS and fetal structural abnormalities,such as Trisomy-21 and Trisomy-18,with the detection rate of aneuploidy 89.47%(51/57)in total.Chromosomal structure abnormalities were mainly diagnosed in the groups of maternal ages,parental chromosome abnormalities,soft markers and high-risk group of the mid-trimester serological screening for DS.There was significantly difference on the first trimester combinational test and mid-trimester serological screening for DS(P=0.001 and P=0.000).Totally 180 cases were diagnosed as chromosomal polymorphism,accounting for 11.08%(180/1624),including 46,XN,Yqh+74cases,46,XN,inv(9)37cases,46,XN,1qh+23cases and 46,XN,Yqh-16 cases.Fifteen cases of serious fetal malformations were found in these patients,with the incidence rate being 8.33%(15/180).These karyotypes mainly were 46,XYqh+,46,XN,inv(9),46,XN,1qh+,and46,XYqh-.Conclusions It is essential to check the fetal chromosome with the indications of invasive procedure.The high-risk of the first-trimester combinational test for DS,fetal malformations are the most important indications,soft markers,maternal age,parental chromosomal abnormality and high-risk of mid-trimester serological screening for DS are the main indications.There is a relationship between the chromosomal polymorphism and fetal growth.更多还原