181例羊水染色体异常的产前诊断结果分析与遗传咨询  

Analysis on prenatal diagnostic results of 181 cases with amniotic fluid chromosomal abnormalities and genetic counseling

作　　者：郭彩琴[1] 肖建平[1] 石锦平[1] 唐叶[1] 赵馨[1] 王峻峰[1] 

机构地区：[1]南京医科大学附属无锡妇幼保健院产前诊断中心,江苏无锡214002

出　　处：《中国妇幼保健》2015年第35期6275-6280,共6页Maternal and Child Health Care of China

摘　　要：目的分析181例羊水染色体异常的临床资料,探讨其遗传咨询与处理方式以合理指导妊娠结局。方法:2008年1月-2013年12月,无锡市妇幼保健院产前诊断中心对4 879例具有产前诊断指征孕妇行羊膜腔穿刺、羊水细胞培养、G显带核型分析。获得染色体报告后,予以遗传咨询,跟踪随访胎儿妊娠结局。结果 4 879例羊水细胞中,共检出异常核型181例,阳性检出率3.71%。异常核型中,各项高危指征所占比例分别为产前筛查高风险40.33%、高龄16.02%、夫妻一方染色体异常13.26%、超声软指标异常8.29%、无创高风险6.63%、不良孕产史4.42%、具有两项以上指征11.05%。异常核型的遗传咨询:1染色体数目异常尤其是常染色体数目异常的胎儿,建议终止妊娠;2嵌合体复查脐血验证,并结合临床、超声资料慎重给予建议;3来源不明的mar染色体,运用不同显带方式,必要时加做父母染色体,采用分子遗传方法探明来源后指导妊娠结局;4平衡易位、倒位携带者一般无异常表型但不排除少数特例,结合影像学检查情况,告知风险;5几例衍生染色体、环状染色体含有染色体的部分缺失、重复可产生异常表型,建议终止妊娠;6多态性变异一般影响不大,但应告知有生殖异常等风险。结论 1产前诊断高危指征的孕妇,胎儿染色体异常率增加,应建议其行侵入性产前诊断;2羊水染色体核型异常的胎儿,根据不同情况,咨询医生的综合判断与个体化遗传咨询相结合、合理指导妊娠结局十分重要。Objective To analyze the clinical data of 181 cases with amniotic fluid chromosomal abnormalities, explore genetic counseling and treatment in order to improve pregnancy outcomes. Methods From January 2008 to December 2013,4 879 pregnant womeu with indications of prenatal diagnosis underwent amniocentesis, amniotic fluid cell culture, and G-band karyotyping in Center of Prenatal Diagnosis of the hospital. After obtaining chromosomal detection reports, genetic counseling was carried out, fetal pregnancy outcomes were fol- lowed up. Results Among 4 879 cases, abnormal karyotypes of amniotic fluid cells were detected in 181 cases, the positive detection rate was 3.71%. Among the cases with abnormal karyotypes, the proportions of cases with high-risk indications were 40. 33% （high risk of pre- natal screening）, 16.02% （ advanced age）, 13.26% （ one parent with chromosomal abnormality）, 8.29% （ abnormal ultrasonic soft mark- ers） , 6. 63% （high risk of non-invasive prenatal detection）, and 4.42% （adverse pregnancy history） , 11.05% of the cases had more than two indieations. Genetic counseling for abnormal chromosomal karyotypes was given as follows： for the cases whose fetuses had abnormal chromosomal number, especially abnormal euehromosomal number, termination of pregnancy was recommended; for the cases with mosaics, reexamination of umbilical cord blood karyotyping was conducted for verification, the advices were carefully given eombining with clinical and uhrasound data; tbr the cases with anonymous chromosome mar, different banding techniques were used, parental chromosomal detection was applied if necessary, molecular genetic method was used to improve pregnancy outcomes; for the cases with balanced translocation or inversion, they generally had little abnormal phenotypes but special cases couldn＇t be excluded, the cases should be informed of the risk combining with imaging examination results; tot a few cases with derivative and ring chromosomes, partial deletion and duplication cont

关 键 词：羊膜腔穿刺 产前诊断 核型分析 染色体异常 遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学]