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浙江大学学报（医学版）
浙江大学学报（医学版）  2019, Vol. 48 Issue (4): 403-408    DOI: 10.3785/j.issn.1008-9292.2019.08.09
专题报道     
2057名双胎妊娠孕妇无创产前筛查结果分析
殷一旋1,2(),朱晖3,钱叶青1,金晶磊1,梅瑾2,董旻岳1,*()
1. 浙江大学医学院附属妇产科医院生殖遗传科 生殖遗传教育部重点实验室, 浙江 杭州 310006
2. 杭州市妇产科医院(杭州市妇幼保健院)产前诊断中心, 浙江 杭州 310008
3. 嘉兴市妇幼保健院产科, 浙江 嘉兴 314051
Noninvasive prenatal screening for twin pregnancy: an analysis of 2057 cases
YIN Yixuan1,2(),ZHU Hui3,QIAN Yeqing1,JIN Jinglei1,MEI Jin2,DONG Minyue1,*()
1. Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China
2. Prenatal Diagnosis Center, Hangzhou Municipal Women's Hospital, Hangzhou Maternal and Child Health Care Hospital, Hangzhou 310008, China
3. Department of Gynecology and Obstetrics, Jiaxing Maternal and Child Health Hospital, Jiaxing 314051, Zhejiang Province, China
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摘要：

目的: 探讨无创产前检测（NIPT）在双胎妊娠胎儿染色体非整倍体筛查中的临床应用价值。方法: 选取2015年2月至2018年8月在浙江大学医学院附属妇产科医院、杭州市妇产科医院和嘉兴市妇幼保健院行NIPT的2057名双活胎孕妇（孕周为12~26+6周），利用高通量测序进行NIPT，对胎儿染色体非整倍体高风险的孕妇进行胎儿染色体核型分析或新生儿染色体核型分析，并对所有研究对象进行随访。计算NIPT对双胎非整倍体的检验效率。结果: 2057名孕妇中，NIPT提示胎儿染色体非整倍体高风险11例，经产前诊断或新生儿外周血染色体核型分析确诊为真阳性9例，假阳性2例，无假阴性。NIPT对双胎妊娠胎儿染色体非整倍体检出率为100.00%，敏感度为100.00%，特异度为99.90%，阳性预测值为81.82%，假阳性率为0.10%；对21三体综合征的检出率为100.00%，敏感度为100.00%，特异度为99.95%，阳性预测值为87.50%，假阳性率为0.05%；对18三体综合征的检出率为100.00%，敏感度为100.00%，特异度为100.00%，阳性预测值为100.00%，假阳性率为0.00%；对13三体综合征特异度为99.95%，假阳性率为0.05%。结论: NIPT对双胎妊娠胎儿染色体非整倍体筛查具有较高的敏感度和特异度，有较高的临床应用价值。
关键词： 妊娠, 双胎;  产前诊断;  普查;  非整倍性;  染色体畸变;  核型分析;  三体性;  染色体, 人, 18对;  DNA/血液;  羊水/细胞学    
Abstract:

Objective: To analyze the results of noninvasive prenatal screening (NIPS) for fetal chromosome aneuploidy in twin pregnancy. Methods: A total of 2057 women with twin-pregnancy between 12-26+6 weeks were recruited from Women's Hospital, Zhejiang University School of Medicine, Hangzhou Municipal Women's Hospital and Jiaxing Maternal and Child Health Hospital during February 2015 to August 2018. The cell-free DNA was extracted from the peripheral blood sample for DNA library, and non-invasive prenatal testing (NIPT) was performed by high-throughput sequencing technique. The fetal karyotype analysis or neonatal karyotype analysis was performed in pregnant women with fetal chromosome aneuploidy, and all subjects were followed up. The efficiency of NIPS testing for twin aneuploidy was calculated. Results: NIPS revealed chromosome abnormalities in 11 out of 2057 twin pregnant women, 9 cases were confirmed chromosome abnormalities, 2 cases were normal and no false negative cases. In this screening, the detection rate, sensitivity, specificity, positive predictive value, false positive rate of NIPS were 100.00%, 100.00%, 99.90%, 81.82%, 0.10%. Those were 100.00%, 100.00%, 99.95%, 87.50% and 0.05% for trisomy 21, 100.00%, 100.00%, 100.00%, 100.00%, 0.00% for trisomy18, and the specificity and false positive rate for trisomy13 were 99.95% and 0.05%, respectively. Conclusion: NIPS can detect fetal chromosomal aneuploidy rapidly and accurately in twin pregnancies, and it is of value in clinical application.
Key words: Pregnancy, twin    Prenatal diagnosis    Mass screening    Aneuploidy    Chromosome aberrations    Karyotyping    Trisomy    Chromosomes, human, pair 18    DNA/blood    Amniotic fluid/cytology
收稿日期: 2019-03-28 出版日期: 2019-10-30
:  R394.3  
基金资助: 浙江省医药卫生科技计划(2018KY809)
通讯作者: 董旻岳     E-mail: 195116481@qq.com;dongmy@zju.edu.cn
作者简介: 殷一旋(1983—), 女, 硕士, 住院医师, 主要从事产前诊断与筛查研究; E-mail: 195116481@qq.com; https://orcid.org/0000-0003-3245-7606
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引用本文:

殷一旋,朱晖,钱叶青,金晶磊,梅瑾,董旻岳. 2057名双胎妊娠孕妇无创产前筛查结果分析[J]. 浙江大学学报（医学版）, 2019, 48(4): 403-408.

YIN Yixuan,ZHU Hui,QIAN Yeqing,JIN Jinglei,MEI Jin,DONG Minyue. Noninvasive prenatal screening for twin pregnancy: an analysis of 2057 cases. J Zhejiang Univ (Med Sci), 2019, 48(4): 403-408.

链接本文:

http://www.zjujournals.com/med/CN/10.3785/j.issn.1008-9292.2019.08.09    或    http://www.zjujournals.com/med/CN/Y2019/V48/I4/403

序号 是否高龄 受孕方式 绒毛膜性 NIPT结果 诊断结果 NIPT与诊断结果一致性 妊娠结局
胎儿A 胎儿B
NIPT：无创产前检测.
1 是 辅助生殖 双绒 21三体高风险 46，XN 46，XN 否 自然流产
2 否 辅助生殖 双绒 21三体高风险 46，XN 47.XN, +21 是 双胎活产
3 是 自然受孕 双绒 21三体高风险 46，XN 47.XN, +21 是 引产
4 是 辅助生殖 双绒 21三体高风险 46，XX 47.XY, +21 是 双胎活产
5 是 辅助生殖 双绒 21三体高风险 46，XY 47.XX, +21 是 双胎活产
6 否 自然受孕 双绒 21三体高风险 46，XN 47.XX, +21 是 减胎后单胎活产
7 否 自然受孕 双绒 21三体高风险 46，XN 47.XX, +21 是 减胎后单胎活产
8 否 辅助生殖 双绒 21三体高风险 46，XN 47.XX, +21 是 减胎后单胎活产
9 否 自然受孕 双绒 18三体高风险 47，XN 47.XX, +18 是 减胎后单胎活产
10 否 辅助生殖 双绒 18三体高风险 46，XX 47.XX, +18 是 双胎活产, 18三体患儿已夭折
11 否 自然受孕 双绒 13三体高风险 46，XN 46，XN 否 双胎活产
表 1  11例无创产前筛查高风险孕妇非整倍体产前筛查结果和妊娠结局
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4 中华人民共和国国家卫生和计划生育委员会.孕妇外周血胎儿游离DNA产前筛查与诊断技术规范[Z/OL].[2019-02-18].http://www.nhc.gov.cn/ewebeditor/uploadfile/2016/11/20161111103703265.docx. National Health and Family Planning Commission of the People's Republic of China. Technical specifications for noninvasive prenatal screening and diagnosis using cell-free fetal DNA[Z/OL].[2019-02-18]. http://www.nhc.gov.cn/ewebeditor/uploadfile/2016/11/20161111103703265.docx. (in Chinese)
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