摘要
目的分析泉州地区孕中期妇女血清学筛查胎儿染色体异常及拷贝数变异结果,为临床咨询提供数据。方法分析2015年1月至2018年12月泉州地区114680例中孕期妇女产前血清学筛查结果。对血清学筛查高风险孕妇进一步行胎儿染色体核型分析、染色体微阵列技术检测或超声检查确诊。结果114680例孕妇血清学筛查检出高风险5856例(不含年龄高风险),阳性率为5.11%。共2677例血清学筛查高风险孕妇行胎儿染色体核型分析,包括21-三体综合征(T21)高风险2479例,18-三体综合征(T18)高风险198例,检出53例T21,17例T18。共489例神经管畸形(neural tube defects,NTD)高风险孕妇行超声检查确诊,确诊NTD 21例。血清学筛查T21、T18和NTD阳性预测值分别为2.14%(53/2479)、8.59%(17/198)和4.29%(21/489)。妊娠结局随访结果显示,血清学筛查T21和T18敏感性分别为74.70%和82.61%。另外,共366例血清学筛查高风险孕妇行染色体微阵列检测,较染色体核型分析额外检出6例致病性拷贝数变异。结论孕中期血清学筛查能够有效筛查T21和T18胎儿染色体异常,当孕中期血清学筛查高风险合并超声异常或高龄因素时具有较高的染色体异常检出率。孕中期血清学筛查高风险进一步行染色体微阵列技术检测是必要的。
Objective To analyze the results of serological screening in pregnancy women during second trimester in Quanzhou area,and further analyze the chromosomal abnormalities and copy number variants in the fetuses,aiming to provide reference for clinical consultation.Methods 114680 cases of prenatal serological screening in second-trimester pregnancy women of Quanzhou area from January 2015 to December 2018 were recruited.Pregnant women with high risk of serological screening were further confirmed by chromosome karyotyping analysis,chromosome microarray analysis detection or ultrasound examination.Results 5856 cases(excluding high age risk)were detected with a high risk value through serological screening of 114680 pregnant women,with the positive rate of 5.11%.A total of 2677 patients underwent fetuses’chromosome karyotyping analysis,including 2479 cases with high risk of 21-trisomy syndrome(T21),and 198 cases with high risk of 18-trisomy syndrome(T18),among them 53 cases of T21 and 17 cases of T18 were confirmed.21 cases of neural tube defects(NTD)were confirmed in 489 cases of NTD high risk pregnancy women through ultrasound examination.Therefore,the predictive values of T21,T18 and NTD for serological screening were 2.14%(53/2479),8.59%(17/198)and 4.29%(21/489),respectively.According to the pregnancy outcome follow-up,the detection rates of T21 and T18 in serological screening were 74.70%and 82.61%,respectively.In addition,366 cases of pregnant women with high risk of serological screening underwent chromosomal microarray detection,6 cases of pathogenic copy number variation were detected.Conclusion Serological screening in the second trimester can effectively screen T21 and T18 fetal chromosomal abnormalities.Higher detection rate of chromosomal abnormalities were observed,when high risk of serological screening in the second trimester of pregnancy associate with ultrasound abnormalities or advanced age high risk factors.Cohromosomal microarray detection is necessary for pregnant women with high risk of serological screening.
作者
许伟雄
张黎仙
林志华
江矞颖
庄建龙
Xu Weixiong;Zhang Lixian;Lin Zhihua;Jiang Juying;Zhuang Jianlong(Department of Laboratory,910 Hospital of Joint Service Support Force,Quanzhou Fujian,362000,P.R.China;Department of Laboratory,The Putian Maternal and Child Health Care Hospital,Putian Fujian 351100,P.R.China;Integrated Technical Service Center,Zhangzhou Customs,Zhangzhou Fujian 363030,P.R.China;Prenatal Diagnosis Center,Quanzhou Women's and Children's Hospital,Quanzhou Fujian 362000,P.R.China)
出处
《中国计划生育和妇产科》
2021年第8期75-79,I0002,共6页
Chinese Journal of Family Planning & Gynecotokology
基金
泉州市科技计划项目(项目编号:2019N050S)
泉州市卫计委科研资助项目(项目编号:2018[15]号)。
关键词
核型分析
染色体微阵列
血清学筛查
染色体微缺失/微重复
产前诊断
karyotyping
chromosome microarray analysis
serological screening
mircrodeletion/microduplication
prenatal diagnosis
