无创产前筛查在非免疫性胎儿水肿胎儿染色体异常诊断中的应用  

NIPT in the diagnosis of chromosome abnormality in non-immune hydrops fetalis patients

作　　者：王一鹏[1] 王树玉[1] 李莉[1] 陈巧媛[1] 张涛[1] 崔郁[1] 阴赪宏[1] WANG Yi-peng;WANG Shu-yu;LI Li;CHEN Qiao-yuan;ZHANG Tao;CUI Yu;YIN Cheng-hong(Prenatal Diagnosis Center,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100026)

机构地区：[1]首都医科大学附属北京妇产医院产前诊断中心,100026

出　　处：《中国优生与遗传杂志》2018年第7期33-34,21,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家重点研发计划(项目编号:2016YFC1000 101);中青年学科骨干培养专项(项目编号:fcyy201607);首都医科大学科研培育基金(项目编号:PYZ2017005)

摘　　要：目的评价NIPT在非免疫性胎儿水肿染色体异常诊断中的应用价值。方法 2016年1月1日至2017年12月31日期间在首都医科大学附属北京妇产医院产前诊断中心就诊的发生非免疫性胎儿水肿的孕妇44例,结合超声表现及其他检查,评价NIPT及产前诊断胎儿染色体核型分析在胎儿水肿染色体异常中的诊断价值。结果 11例行NIPT检测的胎儿水肿孕妇检出胎儿13号染色体三体高风险1例(9.09%)、18号染色体三体高风险2例(18.18%)、21号染色体三体高风险2例(18.18%)及性染色体数目异常高风险2例(18.18%),进行产前诊断结果均符合NIPT结果提示。通过产前诊断在非免疫性胎儿水肿孕妇44例中共检出胎儿13号染色体三体2例(4.54%)、18号染色体三体4例(9.09%)、21号染色体三体6例(13.64%)、Turner综合征9例(20.45%)及其他染色体异常5例。结论 NIPT在非免疫性胎儿水肿胎儿染色体非整倍体的诊断价值与产前诊断相近,NIPT对非免疫性胎儿水肿胎儿染色体异常有较高的应用价值。Objectivs：To evaluate the use of NIPT in the fetal chromosome aneuploidy of non-immune hydrops fetalis. Methods：A total of 44 pregnant women who were diagnosed with non-immune hydrops fetalis in prenatal diagnosis center of Beijing Obstetrics and Gynecology Hosiptal. Clinic informations were collected to evaluate the use of NIPT in the diagnosis of fetal chromosome aneuploidy in non-immune hydrops fetalis patients. Results：In all 11 pregnant women who received NIPT,1（9.09%）with chromosome 13 trisomy high risk,2（18.18%）with chromosome 18 trisomy high risk,2（18.18%）with chromosome 21 trisomy high risk and 2（18.18%）with sex chromosome high risk respectively. All fetal chromosome aneuploidy high risk cases were confirmed by prenatal diagnosis. All 44 pregnant women received prenatal diagnosis,2（4.54%）with chromosome 13 trisomy,4（9.09%）with chromosome 18 trisomy,6（13.64%）with chromosome 21 trisomy,9（20.45%）with Turner syndrome and 5 other kinds of chromosome abnormality respectively. Conclusion：The value of NIPT on the chromosome aneuploidy is similar to prenatal diagnosis. It is highly recommend to use NIPT as the chromosome aneuploidy screening technology of non-immune hydrops fetalis patients.

关 键 词：无创产前筛查 非免疫性胎儿水肿 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]