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Article(id=1203053371746906502, tenantId=1146029695717560320, journalId=1189873630562394117, issueId=1203053366290113441, articleNumber=null, orderNo=null, doi=10.11855/j.issn.0577-7402.2023.03.0292, pmid=null, cstr=null, oa=null, hot=null, price=null, onlineType=0, articleFormat=0, articleType=null, articleTypeStr=research-article, receivedDate=1631030400000, receivedDateStr=2021-09-08, revisedDate=null, revisedDateStr=null, acceptedDate=1642435200000, acceptedDateStr=2022-01-18, onlineDate=1764759875475, onlineDateStr=2025-12-03, pubDate=1679932800000, pubDateStr=2023-03-28, doiRegisterDate=null, doiRegisterDateStr=null, onlineIssueDate=1764759875475, onlineIssueDateStr=2025-12-03, onlineJustAcceptDate=null, onlineJustAcceptDateStr=null, onlineFirstDate=null, onlineFirstDateStr=null, sourceXml=null, magXml=null, createTime=1764759875475, creator=13701087609, updateTime=1764759875475, updator=13701087609, issue=Issue{id=1203053366290113441, tenantId=1146029695717560320, journalId=1189873630562394117, year='2023', volume='48', issue='3', pageStart='245', pageEnd='366', issueExtLink='null', onlineDate='null', pubDate='null', beforeIssueId=null, nextIssueId=null, price=null, status=1, issueComplete=1, articleOrder=1, issueType=-1, specialIssue=0, createTime=1764759874174, creator=13701087609, updateTime=1764810242575, updator=13701087609, preIssue=null, nextIssue=null, ext={EN=IssueExt(id=1203264626747220064, tenantId=1146029695717560320, journalId=1189873630562394117, issueId=1203053366290113441, language=EN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=), CN=IssueExt(id=1203264626747220065, tenantId=1146029695717560320, journalId=1189873630562394117, issueId=1203053366290113441, language=CN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=)}, issueFiles=null}, startPage=292, endPage=297, ext={EN=ArticleExt(id=1203053372099228060, articleId=1203053371746906502, tenantId=1146029695717560320, journalId=1189873630562394117, language=EN, title=Analysis on the application value of extended non-invasive prenatal genetic testing in prenatal screening, columnId=1190310109000602400, journalTitle=Medical Journal of Chinese People’s Liberation Army, columnName=Clinical Research, runingTitle=null, highlight=null, articleAbstract=

Objective To evaluate the application value of extended non-invasive prenatal genetic testing (NIPT-plus) in prenatal screening. Methods All the NIPT-plus data were collected from Zhujiang Hospital of Southern Medical University and the Seventh Affiliated Hospital of Southern Medical University from January 2018 to June 2021. The abnormal results of NIPT-plus were validated by fetal chromosome examination through amniocentesis. The positive predictive value and negative predictive value of NIPT-plus were analyzed, and the fetal prognosis was followed up. Results A total of 2191 cases were detected, and 38 cases were abnormal (positive rate was 1.7%), among which 6 cases were chromosomal copy number variation. A total of 31 cases were confirmed by amniocentesis, of which 18 cases were consistent with the results of NIPT-plus. The total positive predictive value of NIPT-plus was 58.1%, and the negative predictive value was 100.0%. There were 5 cases of chromosome copy number variation for prenatal diagnosis, of which 3 cases were consistent with the results of NIPT-plus test and the positive predictive value was 60.0%. Conclusion The use of NIPT-plus in prenatal screening has a certain warning value for pregnant women with risk of fetal chromosomal abnormalities.

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目的 探讨扩展性无创产前基因检测（NIPT-plus）技术在产前筛查中的应用价值。方法 收集南方医科大学珠江医院及南方医科大学第七附属医院2018年1月-2021年6月的NIPT-plus数据，并对结果提示胎儿染色体异常高风险的孕妇行羊膜腔穿刺胎儿染色体检查进行验证，分析其检测的阳性预测值、阴性预测值，并随访胎儿的预后。结果 共检测2191例孕妇，发现异常38例，阳性率为1.7%，其中染色体拷贝数变异6例。共31例行羊膜腔穿刺验证，其中18例NIPT-plus结果与羊膜腔穿刺结果相符，总的阳性预测值为58.1%、阴性预测值为100.0%。共5例染色体拷贝数变异进行产前诊断，其中3例产前诊断结果与NIPT-plus结果相符，阳性预测值为60.0%。结论 对有发生胎儿染色体异常风险的孕妇，将NIPT-plus用于产前初筛有一定的警示价值。

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肖苑玲，医学硕士，主治医师，主要从事产前诊断与遗传咨询、胎儿医学等方面的研究

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肖苑玲，医学硕士，主治医师，主要从事产前诊断与遗传咨询、胎儿医学等方面的研究

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肖苑玲，医学硕士，主治医师，主要从事产前诊断与遗传咨询、胎儿医学等方面的研究

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Natl Med J China, 2021, 101(15): 1088-1092., articleTitle=Noninvasive prenatal testing of fetal chromosome copy number variation in China's laboratory application, refAbstract=null), Reference(id=1203053381590938390, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, doi=null, pmid=null, pmcid=null, year=2021, volume=101, issue=15, pageStart=1088, pageEnd=1092, url=null, language=null, rfNumber=[18], rfOrder=30, authorNames=史吉平, 谭评, 李金明, journalName=中华医学杂志, refType=null, unstructuredReference=[史吉平, 谭评, 李金明, 等. 无创产前检测胎儿染色体拷贝数变异在我国实验室的应用情况分析[J]. 中华医学杂志, 2021, 101(15): 1088-1092.], articleTitle=无创产前检测胎儿染色体拷贝数变异在我国实验室的应用情况分析, refAbstract=null)], funds=[Fund(id=1203053377174336162, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, awardId=LC2016PY035, language=EN, fundingSource=Clinical Research Startup Program of Southern Medical University which funded by High-Level University Construction of Guangdong Provincial Department of Education(LC2016PY035), fundOrder=null, country=null), Fund(id=1203053377312748199, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, awardId=LC2016PY035, language=CN, fundingSource=广东省教育厅高水平大学建设经费南方医科大学临床研究启动项目(LC2016PY035), fundOrder=null, country=null)], companyList=[AuthorCompany(id=1203053372615127488, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, xref=1, ext=[AuthorCompanyExt(id=1203053372623516097, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, companyId=1203053372615127488, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1Obstetrics and Gynecology Center, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong 510280, China), AuthorCompanyExt(id=1203053372627710402, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, companyId=1203053372615127488, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1南方医科大学珠江医院妇产医学中心，广东广州 510280)]), AuthorCompany(id=1203053372724179402, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, xref=2, ext=[AuthorCompanyExt(id=1203053372732568011, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, companyId=1203053372724179402, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2Department of Obstetrics, the Seventh Affiliated Hospital of Southern Medical University, Foshan, Guangdong 528244, China), AuthorCompanyExt(id=1203053372740956620, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, companyId=1203053372724179402, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2南方医科大学第七附属医院产科，广东佛山 528244)]), AuthorCompany(id=1203053372858397140, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, xref=3, ext=[AuthorCompanyExt(id=1203053372891951573, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, companyId=1203053372858397140, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=3The Second Clinical Medical College of Southern Medical University, Guangzhou, Guangdong 510280, China), AuthorCompanyExt(id=1203053372917117401, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, companyId=1203053372858397140, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=3南方医科大学第二临床医学院，广东广州 510280)])], figs=[ArticleFig(id=1203053376503247494, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, language=EN, label=Tab. 1, caption=

Abnormal results of NIPT-plus andthe results of interventional prenatal diagnosis in 31 cases

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病例NIPT-plus结果核型或CMA结果超声结果妊娠结局胎儿(新生儿)外观
113-三体高风险47，XN，+13唇腭裂、小脑蚓部及心脏左室流出道显示不清引产双手六指、双足六趾、唇腭裂、耳廓位置低
213-三体高风险47，XN，+13唇腭裂，三血管切面显示不清引产耳廓位置低、唇腭裂、颈部增粗
313-三体高风险46，XN无异常顺产无异常
413-三体高风险46，XN无异常顺产双足内翻
518-三体高风险47，XN，+18唇腭裂引产耳廓位置低、形态异常，前额窄、眼裂小、唇腭裂、小下颌
618-三体高风险46，XN无异常顺产无异常
718-三体高风险46, XN,der(13)t(13;18)(q33;q12.2)无异常引产小下颌
821-三体高风险47，XN，+21无异常引产耳廓位置低
921-三体高风险47，XN，+21无异常引产无异常
1021-三体高风险47，XN,21(2)/46,XN(20)无异常引产无异常
1121-三体高风险47，XN，+21无异常引产无异常
1221-三体高风险47，XN，+21无异常引产眼裂小，眼距宽，面部扁平，鼻梁低平、颈部短而宽
1321-三体高风险47，XN，+21胎儿颈项透明层厚度(NT)增厚引产无异常
1421-三体高风险46，XN透明隔腔形态异常顺产无异常
1521-三体高风险荧光原位杂交技术(FISH)12%细胞为21-三体无异常引产无异常
163号染色体数目偏多46，XN无异常顺产无异常
17性染色体数目偏少46，XN无异常剖宫产无异常
18性染色体数目偏少46，XN无异常孕31+周宫内死胎无异常
19性染色体数目偏少46，XN无异常顺产无异常
20性染色体数目偏少46，XN无异常剖宫产无异常
21性染色体数目偏少45，X无异常引产无异常
22Y染色体数目偏多46，XN无异常剖宫产无异常
23性染色体数目异常45，X[9]/46，XX[20]无异常顺产无异常
24性染色体数目异常47，XXY无异常引产外生殖器小
25性染色体数目偏多46，XN无异常顺产无异常
26性染色体数目偏多47，XYY无异常引产无异常
2722q11.2缺失CMA22q11.2缺失2.9Mb室间隔缺损引产无异常
2813q21→qter单体综合征CMA未见异常无异常剖宫产无异常
297q11.22q21.11重复CMA未见异常无异常剖宫产无异常
30Xq28缺失综合征CMA Xq26.3q28缺失21.1Mb无异常引产无异常
3114q21.1q21.3重复CMA 14q21.1q21.3重复5.8Mb无异常引产无异常
), ArticleFig(id=1203053376595522186, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, language=CN, label=表1, caption=

31例NIPT-plus胎儿染色体异常高风险结果及介入性产前诊断结果

, figureFileSmall=null, figureFileBig=null, tableContent=
病例NIPT-plus结果核型或CMA结果超声结果妊娠结局胎儿(新生儿)外观
113-三体高风险47，XN，+13唇腭裂、小脑蚓部及心脏左室流出道显示不清引产双手六指、双足六趾、唇腭裂、耳廓位置低
213-三体高风险47，XN，+13唇腭裂，三血管切面显示不清引产耳廓位置低、唇腭裂、颈部增粗
313-三体高风险46，XN无异常顺产无异常
413-三体高风险46，XN无异常顺产双足内翻
518-三体高风险47，XN，+18唇腭裂引产耳廓位置低、形态异常，前额窄、眼裂小、唇腭裂、小下颌
618-三体高风险46，XN无异常顺产无异常
718-三体高风险46, XN,der(13)t(13;18)(q33;q12.2)无异常引产小下颌
821-三体高风险47，XN，+21无异常引产耳廓位置低
921-三体高风险47，XN，+21无异常引产无异常
1021-三体高风险47，XN,21(2)/46,XN(20)无异常引产无异常
1121-三体高风险47，XN，+21无异常引产无异常
1221-三体高风险47，XN，+21无异常引产眼裂小，眼距宽，面部扁平，鼻梁低平、颈部短而宽
1321-三体高风险47，XN，+21胎儿颈项透明层厚度(NT)增厚引产无异常
1421-三体高风险46，XN透明隔腔形态异常顺产无异常
1521-三体高风险荧光原位杂交技术(FISH)12%细胞为21-三体无异常引产无异常
163号染色体数目偏多46，XN无异常顺产无异常
17性染色体数目偏少46，XN无异常剖宫产无异常
18性染色体数目偏少46，XN无异常孕31+周宫内死胎无异常
19性染色体数目偏少46，XN无异常顺产无异常
20性染色体数目偏少46，XN无异常剖宫产无异常
21性染色体数目偏少45，X无异常引产无异常
22Y染色体数目偏多46，XN无异常剖宫产无异常
23性染色体数目异常45，X[9]/46，XX[20]无异常顺产无异常
24性染色体数目异常47，XXY无异常引产外生殖器小
25性染色体数目偏多46，XN无异常顺产无异常
26性染色体数目偏多47，XYY无异常引产无异常
2722q11.2缺失CMA22q11.2缺失2.9Mb室间隔缺损引产无异常
2813q21→qter单体综合征CMA未见异常无异常剖宫产无异常
297q11.22q21.11重复CMA未见异常无异常剖宫产无异常
30Xq28缺失综合征CMA Xq26.3q28缺失21.1Mb无异常引产无异常
3114q21.1q21.3重复CMA 14q21.1q21.3重复5.8Mb无异常引产无异常
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Positive predictive value and negative predictive value of NIPT-plus

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异常情况NIPT-plus高风险(例)羊膜腔穿刺结果异常(例)NIPT-plus的预测价值(%)
阳性预测值阴性预测值
13-三体综合征4250.0100.0
18-三体综合征3266.8100.0
21-三体综合征8787.5100.0
3号染色体数目异常100.0100.0
性染色体数目异常10440.0100.0
染色体拷贝数变异5360.0100.0
合计311858.1100.0
), ArticleFig(id=1203053376851374745, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1203053371746906502, language=CN, label=表2, caption=

NIPT-plus检测的阳性与阴性预测值

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异常情况NIPT-plus高风险(例)羊膜腔穿刺结果异常(例)NIPT-plus的预测价值(%)
阳性预测值阴性预测值
13-三体综合征4250.0100.0
18-三体综合征3266.8100.0
21-三体综合征8787.5100.0
3号染色体数目异常100.0100.0
性染色体数目异常10440.0100.0
染色体拷贝数变异5360.0100.0
合计311858.1100.0
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NIPT-plus在产前筛查中的应用价值分析
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肖苑玲 1 , 李萌 2 , 郑桂云 1 , 潘石蕾 1 , 杨芳 1 , 郑少萍 3
解放军医学杂志 | 临床研究 2023,48(3): 292-297
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解放军医学杂志 | 临床研究 2023, 48(3): 292-297
NIPT-plus在产前筛查中的应用价值分析
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肖苑玲1, 李萌2, 郑桂云1, 潘石蕾1, 杨芳1, 郑少萍3
作者信息
  • 1南方医科大学珠江医院妇产医学中心，广东广州 510280
  • 2南方医科大学第七附属医院产科，广东佛山 528244
  • 3南方医科大学第二临床医学院，广东广州 510280

    • 肖苑玲，医学硕士，主治医师，主要从事产前诊断与遗传咨询、胎儿医学等方面的研究

Analysis on the application value of extended non-invasive prenatal genetic testing in prenatal screening
Yuan-Ling Xiao1, Meng Li2, Gui-Yun Zheng1, Shi-Lei Pan1, Fang Yang1, Shao-Ping Zheng3
Affiliations
  • 1Obstetrics and Gynecology Center, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong 510280, China
  • 2Department of Obstetrics, the Seventh Affiliated Hospital of Southern Medical University, Foshan, Guangdong 528244, China
  • 3The Second Clinical Medical College of Southern Medical University, Guangzhou, Guangdong 510280, China
出版时间: 2023-03-28 doi: 10.11855/j.issn.0577-7402.2023.03.0292
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摘要
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目的 探讨扩展性无创产前基因检测（NIPT-plus）技术在产前筛查中的应用价值。方法 收集南方医科大学珠江医院及南方医科大学第七附属医院2018年1月-2021年6月的NIPT-plus数据，并对结果提示胎儿染色体异常高风险的孕妇行羊膜腔穿刺胎儿染色体检查进行验证，分析其检测的阳性预测值、阴性预测值，并随访胎儿的预后。结果 共检测2191例孕妇，发现异常38例，阳性率为1.7%，其中染色体拷贝数变异6例。共31例行羊膜腔穿刺验证，其中18例NIPT-plus结果与羊膜腔穿刺结果相符，总的阳性预测值为58.1%、阴性预测值为100.0%。共5例染色体拷贝数变异进行产前诊断，其中3例产前诊断结果与NIPT-plus结果相符，阳性预测值为60.0%。结论 对有发生胎儿染色体异常风险的孕妇，将NIPT-plus用于产前初筛有一定的警示价值。

扩展性无创产前基因检测  /  产前筛查  /  超声

Objective To evaluate the application value of extended non-invasive prenatal genetic testing (NIPT-plus) in prenatal screening. Methods All the NIPT-plus data were collected from Zhujiang Hospital of Southern Medical University and the Seventh Affiliated Hospital of Southern Medical University from January 2018 to June 2021. The abnormal results of NIPT-plus were validated by fetal chromosome examination through amniocentesis. The positive predictive value and negative predictive value of NIPT-plus were analyzed, and the fetal prognosis was followed up. Results A total of 2191 cases were detected, and 38 cases were abnormal (positive rate was 1.7%), among which 6 cases were chromosomal copy number variation. A total of 31 cases were confirmed by amniocentesis, of which 18 cases were consistent with the results of NIPT-plus. The total positive predictive value of NIPT-plus was 58.1%, and the negative predictive value was 100.0%. There were 5 cases of chromosome copy number variation for prenatal diagnosis, of which 3 cases were consistent with the results of NIPT-plus test and the positive predictive value was 60.0%. Conclusion The use of NIPT-plus in prenatal screening has a certain warning value for pregnant women with risk of fetal chromosomal abnormalities.

extended noninvasive prenatal genetic testing  /  prenatal screening  /  ultrasound
肖苑玲, 李萌, 郑桂云, 潘石蕾, 杨芳, 郑少萍. NIPT-plus在产前筛查中的应用价值分析. 解放军医学杂志, 2023 , 48 (3) : 292 -297 . DOI: 10.11855/j.issn.0577-7402.2023.03.0292
Yuan-Ling Xiao, Meng Li, Gui-Yun Zheng, Shi-Lei Pan, Fang Yang, Shao-Ping Zheng. Analysis on the application value of extended non-invasive prenatal genetic testing in prenatal screening[J]. Medical Journal of Chinese People’s Liberation Army, 2023 , 48 (3) : 292 -297 . DOI: 10.11855/j.issn.0577-7402.2023.03.0292
正文
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染色体异常是导致胎儿或新生儿发生先天缺陷的常见原因[1]。目前临床上诊断胎儿染色体异常的金标准为介入性产前诊断，包括绒毛活检术、羊膜腔穿刺术及脐带血穿刺术，但介入性产前诊断有导致胎儿丢失、感染等的风险[2]。孕妇因各种原因可能无法或拒绝行介入性产前诊断，因此近年来无创产前基因检测（noninvasive prenatal genetic testing，NIPT）技术被广泛应用于产前筛查[3]，但NIPT主要筛查胎儿13-三体综合征、18-三体综合征和21-三体综合征，存在较大的局限性。目前的研究发现，染色体微缺失/微重复染色体拷贝数变异（CNVs）是另一大类引起胎儿或新生儿出生缺陷的染色体异常。因此，扩展性无创产前基因筛查（NIPT-plus）开始逐渐应用于临床。NIPT-plus除能检测常染色体和性染色的数目异常，还能检测一些常见的致病性CNVs[4]。但NIPT-plus检测仍存在一定的假阳性和假阴性，增加了不必要的介入性产前诊断及漏诊胎儿染色体异常的可能性。因此，目前对NIPT-plus是否可常规用于产前筛查尚无定论，相关报道较少。本研究通过总结NIPT-plus筛查数据，对结果提示胎儿染色体异常为高风险的孕妇行羊膜腔穿刺胎儿染色体检查进行验证，并分析NIPT-plus检测的阳性预测值、阴性预测值等，旨在探讨其在产前筛查中的应用价值。
1 资料与方法
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1.1 研究对象
收集2018年1月-2021年6月在南方医科大学珠江医院及南方医科大学第七附属医院就诊并行NIPT-plus检测的2191例单胎妊娠孕妇的临床资料进行回顾性分析。纳入标准：孕龄在12周以上的单胎妊娠孕妇，至少具备唐氏筛查高（临界）风险、高龄（≥35周岁）、超声指标异常（如心室强光斑、肠管回声增强、鼻骨缺失）等异常情况之一。排除标准：（1）双胎或多胎妊娠；（2）孕妇本人为肿瘤患者或1年内接受过免疫治疗、干细胞治疗、移植手术或接受过异体输血等；（3）孕妇曾分娩染色体异常胎儿；（4）超声提示胎儿存在结构畸形等。本研究获南方医科大学珠江医院伦理委员会审批，所有孕妇均签署知情同意书。采用EDTA抗凝采血管抽取孕妇静脉血5 ml，所有标本均送同一检测机构（深圳华大基因）进行检测。
1.2 研究方法
采用NIPT-plus进行检测，具体方法流程如下。（1）DNA提取：在4 ℃预冷离心机内1600 r/min离心10 min，留取上层血浆。初步分离的血浆在4 ℃下再次以16 000 r/min离心10 min，以去除残存的细胞，分离出血浆，再通过洗脱试剂得到DNA溶液。（2）文库构建及测序：对DNA溶液进行纯化及PCR扩增。对扩增后的DNA文库再一次进行纯化，去除反应中残留的试剂，然后洗脱DNA，获得DNA文库，要求每个文库>2 ng/μl。将DNA文库按比例混合上机进行测序。测序程序为BGISEQ-500（或MGISEQ-2000）。（3）非整倍体分析及CNV分析。首先对所有孕妇的外周血进行NIPT-plus检测，如结果提示染色体异常高风险，则建议进行羊膜腔穿刺产前诊断，抽取羊水后送实验室进行羊水染色体核型和（或）染色体微阵列（CMA）检测，并对羊水穿刺结果进行总结。
1.3 妊娠结局随访
所有孕妇如确诊胎儿染色体异常需引产，引产前均复查超声了解胎儿是否有结构畸形，引产后观察并记录胎儿外观情况。如继续妊娠，定期复查胎儿超声，新生儿出生后观察外观有无异常，并随访新生儿发育情况。
1.4 统计学处理
本研究仅进行统计学描述，计量资料以$\bar{x}±s$表示，计数资料以例（%）表示。
2 结果
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2.1 NIPT-plus与产前诊断结果
共对2191例孕妇进行NIPT-plus检测，孕妇年龄为23~39（31.3±5.6）岁。结果提示胎儿染色体异常高风险者38例，阳性率为1.7%（38/2191）。其中NIPT-plus结果提示为13-三体综合征、18-三体综合征、21-三体综合征高风险及性染色体数目异常者30例，占79.0%（30/38）；提示其他常染色体数目异常2例；染色体拷贝数变异6例，占15.8%（6/38）。共有31例行羊膜腔穿刺胎儿染色体核型或染色体核型及染色体微阵列（CMA）检查进行确诊，其中13-三体综合征、18-三体综合征、21-三体综合征高风险15例，其他染色体数目和结构异常16例，包括性染色体数目异常10例、3号染色体数目异常1例、染色体拷贝数变异5例。7例拒绝进一步检查，其中5例为NIPT-plus提示性染色体数目偏少、1例提示20号染色体数目偏少（不排除嵌合）、1例为22q11.2缺失。
NIPT-plus与穿刺结果相符者18例（58.1%），不相符者13例（41.9%），其中2例为13-三体综合征高风险、1例为18-三体综合征高风险、1例为21-三体综合征高风险、6例为性染色体数目异常、1例为3号染色体数目异常、2例染色体拷贝数变异，不相符者羊水染色体核型和（或）CMA检查结果提示未发现异常（表1）。NIPT-plus总的阳性预测值为58.1%。5例NIPT-plus提示染色体拷贝数变异者，其中3例羊水CMA结果与NIPT-plus结果相符，NIPT-plus检测染色体拷贝数变异的阳性预测值为60.0%（表2）。7例拒绝产前诊断者均已分娩，产后新生儿外观均未见异常，随访至2021年9月新生儿发育正常。
NIPT-plus结果阴性者随访至2021年9月未发现漏诊胎儿染色体异常。
2.2 染色体异常胎儿超声及引产胎儿外观情况
羊膜腔穿刺产前诊断13-三体综合征2例，该2例孕妇胎儿颈项透明层厚度（NT）检查时超声未发现异常，孕16~18周超声检查均提示胎儿有结构畸形，如唇腭裂和心血管发育异常等，引产后发现胎儿外观除唇腭裂外，尚有耳廓位置低或多指（趾）等；确诊18-三体综合征2例，16~18周超声提示1例胎儿有唇腭裂、1例未发现异常，但引产后发现胎儿均有小下颌，1例另有耳廓位置低、眼裂小等颜面部发育异常；确诊21-三体综合征7例，除1例提示NT增厚外，引产前超声均未发现胎儿存在明显的结构异常，引产后除2例外观见耳廓位置低或眼裂小、眼距宽等异常外，其他外观均未见明显异常；确诊性染色体数目异常4例，超声均未发现胎儿存在结构畸形，1例47，XXY胎儿引产后见胎儿外生殖器短小，其余未见明显异常；确诊胎儿染色体拷贝数变异3例，其中1例22q11.2缺失胎儿超声提示有室间隔缺损，引产后3例胎儿外观均未见明显异常。
3 讨论
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临床上，染色体异常患者主要表现为不同程度的智力低下、外观和（或）器官畸形、生育能力低下等。目前的研究发现，胎儿染色体异常以非整倍体最为常见，其中又以13-三体综合征、18-三体综合征、21-三体综合征及性染色体数目异常为主，据统计这4种染色体数目异常占产前胎儿染色体异常的80%~95%[5]。NIPT是一种基于孕妇外周血中胎儿游离DNA的产前筛查技术，主要用于筛查13-三体综合征、18-三体综合征、21-三体综合征，其敏感度及特异度均高达98%以上[6]。CNVs是另一大类引起胎儿或新生儿出生缺陷的染色体结构异常，文献报道，染色体微缺失/微重复CNVs检测可在传统的染色体核型检测基础上，多检出约6%的染色体拷贝数变异[7]。而NIPT-plus在传统的NIPT检测范围的基础上，还能筛查其他常染色体和性染色体数目异常及染色体拷贝数变异。
本研究结果显示，NIPT-plus检测13-三体综合征的阳性预测值（50.0%）较低，检测18-三体综合征的阳性预测值为66.7%，而检测21-三体综合征的阳性预测值（87.5%）相对较高，与文献报道基本相符[8]。虽然检测13-三体综合征、18-三体综合征的阳性预测值相对于21-三体综合征较低，但13-三体综合征、18-三体综合征胎儿超声检查常提示存在结构畸形，因此漏诊的可能性较小[9]。既往研究发现，常染色体非整倍体是导致自然流产的主要原因，而常染色体非整倍体最常见的是染色体三体，其中除21-三体综合征、13-三体综合征、18-三体综合征胎儿能存活外，其他完全型常染色体三体常为致死性染色体异常[10]，但常染色体三体合并正常核型的嵌合体胎儿仍可能正常存活，如嵌合比例低，孕期胎儿超声检查可无明显异常，胎儿出生后可有智力低下及发育异常等表现[11]。因此，仍有必要筛查除了21-三体综合征、13-三体综合征、18-三体综合征的其他常染色体非整倍体，而NIPT-plus对其他常染色体三体（包括嵌合体）具有提示作用。文献报道，其他常染色体非整倍体NIPT-plus检测的阳性预测值为21.1%[12]，而本研究仅1例NIPT-plus提示3号染色体数目异常者进入产前诊断，其最终羊水染色体检查结果未发现异常，因样本量较少，无法得出确切结论，尚需扩大样本量进一步研究。
本研究结果提示性染色体非整倍体筛查的准确性亦较低，其总的阳性预测值为40.0%，与文献报道相似，可能与母体本身为性染色体异常患者、性染色体互换、胎盘滋养层细胞染色体异常等相关[13]。文献报道，除45，X（特纳综合征）超声常提示有NT增厚、胎儿颈部淋巴水囊瘤、胎儿非免疫性水肿[14]外，其他性染色体数目异常（如47，XXX、47，XXY等），包括45，X/46，XX嵌合体，如嵌合比例低，超声检查常无异常。本研究NIPT-plus提示性染色体数目偏少者，5例中有4例（80.0%）羊水染色体检查无异常。另有5例NIPT-plus提示性染色体数目偏少而未行产前诊断者，孕期超声检查未发现胎儿存在明显结构异常，产后新生儿外观均未发现明显异常，随访至2021年9月生长发育正常。故对于NIPT-plus提示性染色体数目异常者，尤其是提示性染色体数目偏少而超声无异常者，切勿只根据NIPT-plus结果盲目进行引产，以免带来不必要的胎儿丢失。除特纳综合征外，其他性染色体数目异常胎儿出生后绝大部分智力正常或仅轻度降低，生长发育正常，大部分具有生育能力，因此，对性染色体数目异常胎儿，应谨慎行引产术。
由于NIPT-plus除可筛查性染色体数目异常外，还可筛查结构异常，而性染色体拷贝数变化部分可能为致病性拷贝数变异[15]，因此，如胎儿父母迫切需要了解胎儿是否存在性染色体异常，仍可选择NIPT-plus进行初筛。本研究NIPT-plus共发现6例染色体拷贝数变异，有5例进入产前诊断，其中3例与产前诊断结果相符，均为致病性染色体拷贝数变异，阳性预测值为60.0%，与文献报道基本相符[16-17]。这3例引产胎儿中仅1例孕中期超声提示胎儿存在室间隔缺损，另2例染色体缺失片段较大但超声检查未发现异常，引产后外观均未见异常。因此，对高龄、超声软指标等异常者，如不进行胎儿染色体拷贝数变异检查，仍有漏诊胎儿染色体异常的可能，故可将NIPT-plus用于初筛，以减少漏诊的可能性。此外，有研究发现，NIPT-plus对常见的5p15缺失、22q11.2缺失、1p36缺失和15q11.2缺失检测的准确性较高，对其他染色体微缺失/微重复拷贝数变异检测的准确性较低[18]。因此，临床应结合超声及病史综合考虑，选择合适的产前诊断（筛查）方式，切勿盲目扩大NIPT-plus的检测范围。
综上所述，NIPT-plus筛查染色体拷贝数变异的阳性预测值及阴性预测值均较高，具有一定的警示价值，对于有可能发生胎儿染色体异常的孕妇可将NIPT-plus用于初筛，以尽可能减少漏诊，但建议结合超声检查结果进行综合判断，以减少不必要的穿刺及相关风险。但因本研究纳入例数较少，NIPT-plus用于筛查除21-三体综合征、13-三体综合征、18-三体综合征外的其他常染色体非整倍体的阳性预测值及阴性预测值尚无定论，仍需扩大样本量进一步探讨。
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  • 广东省教育厅高水平大学建设经费南方医科大学临床研究启动项目(LC2016PY035)
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参考文献 引证文献
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2023年第48卷第3期
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doi: 10.11855/j.issn.0577-7402.2023.03.0292
  • 接收时间：2021-09-08
  • 首发时间：2025-12-03
  • 出版时间：2023-03-28
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  • 收稿日期：2021-09-08
  • 录用日期：2022-01-18
基金
Clinical Research Startup Program of Southern Medical University which funded by High-Level University Construction of Guangdong Provincial Department of Education(LC2016PY035)
广东省教育厅高水平大学建设经费南方医科大学临床研究启动项目(LC2016PY035)
作者信息
    1南方医科大学珠江医院妇产医学中心，广东广州 510280
    2南方医科大学第七附属医院产科，广东佛山 528244
    3南方医科大学第二临床医学院，广东广州 510280
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2种不同金属材料的力学参数
科
Family		 属数
Number of
genus		 种数
Number of
species		 占总种数比例
Percentage of
total species (%)		 属
Genus		 种数
Number of
species		 占总种数比例
Percentage of total
species (%)
鹅膏菌科Amanitaceae 2 11 5.26 鹅膏菌属 Amanita 10 4.78
小菇科 Mycenaceae 2 12 5.74 丝盖伞属 Inocybe 5 2.39
多孔菌科 Polyporaceae 8 14 6.70 蜡蘑属 Laccaria 5 2.39
红菇科 Russulaceae 3 23 11.00 小皮伞属 Marasmius 6 2.87
小菇属 Mycena 11 5.26
光柄菇属 Pluteus 5 2.39
红菇属 Russula 17 8.13
栓菌属 Trametes 5 2.39
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