高级检索
中华医学遗传学杂志
期刊首页
过刊列表
高级检索
稿件发表
• 无创产前检测专栏 •
ENGLISH ABSTRACT
无创产前筛查提示胎儿6p22.1-p21.32重复的产前诊断及临床结局分析
代鹏
赵干业
侯雅勤
胡爽
孔祥东
作者及单位信息
·
DOI： 10.3760/cma.j.cn511374-20240703-00368
Analysis of the clinical outcomes of fetal 6p22.1-p21.32 duplications signaled by non-invasive prenatal screening
Dai Peng
Zhao Ganye
Hou Yaqin
Hu Shuang
Kong Xiangdong
Authors Info & Affiliations
Dai Peng
Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Zhao Ganye
Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Hou Yaqin
Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Hu Shuang
Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Kong Xiangdong
Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
·
DOI： 10.3760/cma.j.cn511374-20240703-00368
188
57
0
0
0
0
PDF下载
APP内阅读
摘要

目的总结无创产前筛查(NIPS)提示6p22.1-p21.32重复高风险孕妇的羊水诊断结果及妊娠结局，为遗传咨询提供依据。

方法收集NIPS提示6p22.1-p21.32重复高风险孕妇的临床信息、羊水诊断结果和妊娠结局，并对相关数据进行分析。本研究通过了郑州大学第一附属医院医学伦理委员会的审查(批准号：2018-YB-08)。

结果共发现43例高风险孕妇，其中30人接受了羊水诊断，27例证实为假阳性，3例胎儿均存在其他染色体异常，其中2例判定为可能良性变异，1例为致病性变异。35例胎儿出生正常，1例终止妊娠，7例失访。

结论对于NIPS提示6p22.1-p21.32重复高风险的孕妇，应做好遗传咨询，告知其假阳性率高，在尽量减轻心理和经济负担的前提下，建议其接受羊水诊断并定期孕检。

无创产前筛查;6p22.1-p21.32;羊水诊断;妊娠结局
ABSTRACT

ObjectiveTo summarize the results of prenatal diagnosis and outcome of pregnancy of fetuses with a high risk for 6p22.1-p21.32 duplication signaled by non-invasive prenatal screening (NIPS).

MethodsClinical information, results of prenatal diagnosis and pregnancy for fetuses with a high risk for 6p22.1-p21.32 duplication were collected and analyzed. This study has been approved by the medical Ethics Committee of the First Affiliated Hospital of Zhengzhou University (Ethic No.2018-YB-08).

ResultsForty three pregnant women with a high risk for 6p22.1-p21.32 duplication were identified by NIPS, among whom 30 had accepted invasive prenatal diagnosis, and 27 fetuses were verified to be false positive. Three fetuses were found to have other chromosomal abnormalities, among whom two were rated to be likely benign CNV and 1 was rated to be likely pathogenic. Follow up of the 43 pregnant women revealed that 35 fetuses were normal after birth, 1 pregnancy was terminated, and 7 were lost to follow up.

ConclusionFor pregnant women with a high risk for 6p22.1-p21.32 duplication signaled by NIPS, genetic counselor need to inform them the high false positive rate and recommend invasive prenatal diagnosis and/or ultrasound examination in order to reduce the psychological and economic burdens.

Noninvasive prenatal screening;6p22.1-p21.32;Prenatal diagnosis;Pregnancy outcome
Kong Xiangdong, Email: tendef.3ab62dxgnok
Copyright by Chinese Medical Association
No content published by the journals of Chinese Medical Association may be reproduced or abridged without authorization. Please do not use or copy the layout and design of the journals without permission.
All articles published represent the opinions of the authors, and do not reflect the official policy of the Chinese Medical Association or the Editorial Board, unless this is clearly specified.
引用本文

代鹏,赵干业,侯雅勤,等. 无创产前筛查提示胎儿6p22.1-p21.32重复的产前诊断及临床结局分析[J]. 中华医学遗传学杂志,2024,41(12)：1411-1415.

DOI:10.3760/cma.j.cn511374-20240703-00368

PERMISSIONS

Request permissions for this article from CCC.

评价本文
*以上评分为匿名评价

版权归中华医学会所有。

未经授权，不得转载、摘编本刊文章，不得使用本刊的版式设计。

除非特别声明，本刊刊出的所有文章不代表中华医学会和本刊编委会的观点。

经过10余年的临床应用，无创产前筛查技术(non-invasive prenatal screening，NIPS)已从筛查胎儿21、18和13-三体综合征扩展至其他染色体非整倍体以及染色体拷贝数变异(copy number variations，CNVs) [ 1 ]。目前，国内外对采用NIPS筛查CNVs尚无统一的指南和技术规范。国际产前诊断学会(International Society of Prenatal Diagnosis，ISPD)指出，对于罕见的常染色体三体、亚染色体区不平衡和微缺失/微重复综合征，尚无足够的数据能够评估NIPS的性能和临床效能，在临床推广前尚需进一步的研究 [ 2 ]。美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics，ACMG)指出，除22q11.2缺失综合征外，尚无充足的证据支持对其他的CNVs进行常规筛查 [ 3 ]。我国2021年推出的《孕妇外周血浆胎儿游离DNA高通量测序筛查致病性拷贝数变异的技术标准共识》指出，将22q11.2缺失综合征、Prader-Willi/Angelman综合征(I型)、Smith-Magenis综合征、Wolf-Hirschhorn综合征、猫叫综合征、1p36缺失综合征、9p缺失综合征、18p缺失综合征、18q缺失综合征和Jacobsen综合征等10种致病性CNVs纳入筛查范围 [ 4 ]。本研究对郑州大学第一附属医院遗传与产前诊断中心NIPS筛查提示胎儿6p22.1-p21.32重复高风险孕妇的临床资料和羊水检查结果进行了回顾，探讨其阳性预测值(positive predictive value，PPV)和随访结果，为进一步规范其临床应用提供参考。现将研究结果报道如下。
试读结束，您可以通过登录机构账户或个人账户后获取全文阅读权限。
参考文献
[1]
Xu C , Li J , Chen S ,et al. Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening[J]. Cell Discov, 2022,8(1):109. DOI: 10.1038/s41421-022-00457-4 .
返回引文位置Google Scholar
百度学术
万方数据
[2]
Hui L , Ellis K , Mayen D ,et al. Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies[J]. Prenat Diagn, 2023,43(7):814-828. DOI: 10.1002/pd.6357 .
返回引文位置Google Scholar
百度学术
万方数据
[3]
Dungan JS , Klugman S , Darilek S ,et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)[J]. Genet Med, 2023,25(8):100874. DOI: 10.1016/j.gim.2022.11.004 .
返回引文位置Google Scholar
百度学术
万方数据
[4]
刘维强，杨洁霞，章钧，等. 孕妇外周血浆胎儿游离DNA高通量测序筛查致病性拷贝数变异的技术标准共识[J]. 中华医学遗传学杂志， 2021,38(7):613-619. DOI: 10.3760/cma.j.cn511374-20201208-00855 .
返回引文位置Google Scholar
百度学术
万方数据
Liu WQ , Yang JX , Zhang J ,et al. Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA[J]. Chin J Med Genet, 2021,38(7):613-619. DOI: 10.3760/cma.j.cn511374-20201208-00855 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[5]
代鹏，赵干业，胡爽，等. NIPT提示染色体拷贝数变异的临床数据分析与探讨[J]. 现代妇产科进展， 2023,32(8):600-604. DOI: 10.13283/j.cnki.xdfckjz.2023.06.034 .
返回引文位置Google Scholar
百度学术
万方数据
Dai P , Zhao GY , Hu S ,et al. Analysis and discussion of clinical data of chromosomal copy number variation by NIPT[J]. Prog Obstet Gynecol, 2023,32(8):600-604. DOI: 10.13283/j.cnki.xdfckjz.2023.06.034 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[6]
Wapner RJ , Babiarz JE , Levy B ,et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes[J]. Am J Obstet Gynecol, 2015,212(3):331-332. DOI: 10.1016/j.ajog.2014.11.041 .
返回引文位置Google Scholar
百度学术
万方数据
[7]
冯暄，张庆华，王兴，等. 扩展性无创产前筛查技术在染色体拷贝数变异检测中的临床应用效果评价[J]. 检验医学， 2023,38(8):730-737. DOI: 10.3969/j.issn.1673-8640.2023.08.005 .
返回引文位置Google Scholar
百度学术
万方数据
Feng X , Zhang QH , Wang X ,et al. Evaluation of clinical application of expanded non-invasive prenatal testing for chromosome copy number variation[J]. Lab Med, 2023,38(8):730-737. DOI: 10.3969/j.issn.1673-8640.2023.08.005 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[8]
Riggs ER , Andersen EF , Cherry AM ,et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)[J]. Genet Med, 2020,22(2):245-257. DOI: 10.1038/s41436-019-0686-8 .
返回引文位置Google Scholar
百度学术
万方数据
[9]
Zhou J , Zhu L . Shared genetic links between hypothyroidism and psychiatric disorders: evidence from a comprehensive genetic analysis[J]. Front Endocrinol (Lausanne), 2024,15:1370019. DOI: 10.3389/fendo.2024.1370019 .
返回引文位置Google Scholar
百度学术
万方数据
[10]
Walsh KM , Gorlov IP , Hansen HM ,et al. Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans[J]. Cancer Epidemiol Biomarkers Prev, 2013,22(2):251-260. DOI: 10.1158/1055-9965.EPI-12-1007-T .
返回引文位置Google Scholar
百度学术
万方数据
[11]
Li R , Wan J , Zhang Y ,et al. Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies[J]. Ultrasound Obstet Gynecol, 2016,47(1):53-57. DOI: 10.1002/uog.14911 .
返回引文位置Google Scholar
百度学术
万方数据
[12]
王梓茗，杨洁霞，尹爱华. 无创产前检测对常规染色体数目异常之外的拷贝数变异的检出意义：205例临床分析[J]. 中华围产医学杂志， 2020,23(6):405-410. DOI: 10.3760/cma.j.cn113903-20190425-00282 .
返回引文位置Google Scholar
百度学术
万方数据
Wang ZM , Yang JX , Yin AH . Detection of copy number variations for chromosome non-numerical abnormality with non-invasive prenatal testing: clinical analysis of 205 cases[J]. Chin J Perinat Med, 2020,23(6):405-410. DOI: 10.3760/cma.j.cn113903-20190425-00282 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[13]
Liang D , Cram DS , Tan H ,et al. Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes[J]. Genet Med, 2019,21(9):1998-2006. DOI: 10.1038/s41436-019-0467-4 .
返回引文位置Google Scholar
百度学术
万方数据
[14]
Jayashankar SS , Nasaruddin ML , Hassan MF ,et al. Non-invasive prenatal testing (NIPT): reliability, challenges, and future directions[J]. Diagnostics (Basel), 2023,13(15):2570. DOI: 10.3390/diagnostics13152570 .
返回引文位置Google Scholar
百度学术
万方数据
备注信息
A
孔祥东，Email： tendef.3ab62dxgnok
B

代鹏：实施研究、起草文章、采集数据、分析/解释数据和统计分析；赵干业：采集数据、分析/解释数据和统计分析、对文章的内容作批评性审阅；侯雅勤：分析数据、对文章的内容作批评性审阅；胡爽：对文章的内容作批评性审阅；孔祥东：对文章的内容作批评性审阅、指导研究、行政、技术或材料支持、支持性贡献

C
所有作者均声明不存在利益冲突
D
河南省医学科技攻关-省部共建重点项目 (SBaJ202402058)
评论 （0条）
注册
登录
时间排序
暂无评论，发表第一条评论抢沙发
最新推荐
更多
颈部透明层厚度≥第99百分位胎儿的产前诊断与临床结局分析
项金莲 等
中华超声影像学杂志 2024,33(04)
无创产前筛查高风险胎儿的产前诊断结果分析及妊娠结局研究
罗艳 等
中国全科医学 2022,25(20)
圆锥动脉干畸形胎儿297例的产前诊断和临床结局分析
曹群 等
中华妇产科杂志 2022,57(01)
五例7q11.23微缺失/微重复胎儿的产前诊断
梁斌 等
中华医学遗传学杂志 2021,38(11)
MedAI助手（体验版）
文档即答
智问智答
机器翻译
回答内容由人工智能生成，我社无法保证其准确性和完整性，该生成内容不代表我们的态度或观点，仅供参考。
生成快照
文献快照

你好，我可以帮助您更好的了解本文，请向我提问您关注的问题。

0/2000

《中华医学会杂志社用户协议》 | 《隐私政策》

《SparkDesk 用户协议》 | 《SparkDesk 隐私政策》

网信算备340104764864601230055号 | 网信算备340104726288401230013号

技术支持：

历史对话
本文全部
还没有聊天记录
设置
模式
纯净模式沉浸模式
字号
小中大