早孕期非整倍体筛查的历史和实践回顾。
A historical and practical review of first trimester aneuploidy screening.
机构信息
Maternal Fetal Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
Maternal Fetal Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
出版信息
Semin Fetal Neonatal Med. 2014 Jun;19(3):183-7. doi: 10.1016/j.siny.2013.11.013. Epub 2013 Dec 14.
Abstract
There have been tremendous advancements over the past three decades in prenatal screening for aneuploidy and we have changed our practice from screening by maternal age alone to 'combined' first trimester screening and circulating cell-free fetal DNA. We currently use the nuchal translucency and biochemical markers of free β-hCG and PAPP-A to determine the risk of fetal aneuploidy. The primary goal is to identify higher risk women for fetal aneuploidy early in pregnancy and give them the option to pursue invasive testing in a timely manner if desired.
摘要
在过去的三十年中，产前非整倍体筛查取得了巨大的进展，我们已经改变了仅通过母亲年龄进行筛查的做法，转而采用“联合”的早孕期筛查和循环游离胎儿 DNA 筛查。我们目前使用颈项透明层和游离β-hCG 和 PAPP-A 的生化标志物来确定胎儿非整倍体的风险。主要目标是在妊娠早期识别出具有更高胎儿非整倍体风险的女性，如果需要，及时为她们提供进行有创性检测的选择。
相似文献
1
A historical and practical review of first trimester aneuploidy screening.早孕期非整倍体筛查的历史和实践回顾。
Semin Fetal Neonatal Med. 2014 Jun;19(3):183-7. doi: 10.1016/j.siny.2013.11.013. Epub 2013 Dec 14.
2
Prenatal screening for fetal aneuploidy in singleton pregnancies.单胎妊娠胎儿非整倍体的产前筛查。
J Obstet Gynaecol Can. 2011 Jul;33(7):736-750. doi: 10.1016/S1701-2163(16)34961-1.
3
Prenatal screening for and diagnosis of aneuploidy in twin pregnancies.双胎妊娠非整倍体的产前筛查与诊断
J Obstet Gynaecol Can. 2011 Jul;33(7):754-67.
4
5
6
[What are the real purpose and scope of screening for aneuploidy?].非整倍体筛查的真正目的和范围是什么？
Gynecol Obstet Fertil Senol. 2018 Feb;46(2):124-129. doi: 10.1016/j.gofs.2017.12.011. Epub 2018 Feb 1.
7
Serum parameters and nuchal translucency in first trimester screening for fetal chromosomal abnormalities.孕早期胎儿染色体异常筛查中的血清参数与颈部透明带厚度
Br J Obstet Gynaecol. 1996 Oct;103(10):1009-14. doi: 10.1111/j.1471-0528.1996.tb09552.x.
8
Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for chromosomal abnormalities.无创产前诊断时代的孕早期筛查原则：染色体异常筛查
Arch Gynecol Obstet. 2017 Oct;296(4):645-651. doi: 10.1007/s00404-017-4459-9. Epub 2017 Jul 12.
9
First trimester predictors of adverse pregnancy outcomes.孕早期不良妊娠结局的预测因素。
Aust N Z J Obstet Gynaecol. 2008 Dec;48(6):529-35. doi: 10.1111/j.1479-828X.2008.00912.x.
10
The clinical usefulness of biochemical (free β-hCg, PaPP-a) and ultrasound (nuchal translucency) parameters in prenatal screening of trisomy 21 in the first trimester of pregnancy.生化指标（游离β-人绒毛膜促性腺激素、妊娠相关血浆蛋白A）和超声指标（颈项透明层）在孕早期21三体综合征产前筛查中的临床应用价值。
Ginekol Pol. 2019;90(3):161-166. doi: 10.5603/GP.2019.0029.
引用本文的文献
1
Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.软超声标志物在胎儿异常产前检测与评估中的诊断及预后作用
Prz Menopauzalny. 2024 Jun;23(2):94-108. doi: 10.5114/pm.2024.141092. Epub 2024 Jul 4.
2
Pregnancies with 'double-positive' multiple marker screening results: a population-based study in Ontario, Canada.“双重阳性”多项标记物筛查结果的妊娠：加拿大安大略省的一项基于人群的研究。
BMC Pregnancy Childbirth. 2024 Sep 6;24(1):584. doi: 10.1186/s12884-024-06774-8.
3
The 'Radiant Effect': Recent Sonographic Image-Enhancing Technique and Its Impact on Nuchal Translucency Measurements.“辐射效应”：近期超声图像增强技术及其对颈项透明层测量的影响。
J Clin Med. 2024 Jun 20;13(12):3625. doi: 10.3390/jcm13123625.
4
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.22 三体嵌合体从产前到产后的表现：病例系列和文献系统综述。
Genes (Basel). 2024 Mar 8;15(3):346. doi: 10.3390/genes15030346.
5
Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.超声胎儿颈项透明层测量与细胞遗传学结果。
JAMA Netw Open. 2024 Mar 4;7(3):e243689. doi: 10.1001/jamanetworkopen.2024.3689.
6
Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis.解析唐氏综合征：从基因异常到人工智能辅助诊断
Biomedicines. 2023 Dec 12;11(12):3284. doi: 10.3390/biomedicines11123284.
7
Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta.生化筛查胎儿 21 三体：母血清标志物的病理生理学及胎盘的参与。
Int J Mol Sci. 2023 Apr 21;24(8):7669. doi: 10.3390/ijms24087669.
8
Effect of Lipid-Based Multiple Micronutrients Supplementation in Underweight Primigravida Pre-Eclamptic Women on Maternal and Pregnancy Outcomes: Randomized Clinical Trial.脂基多种微量营养素补充剂对低体重初产妇先兆子痫妇女母婴结局的影响：随机临床试验。
Medicina (Kaunas). 2022 Nov 30;58(12):1772. doi: 10.3390/medicina58121772.
9
Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.遗传咨询和管理：第一项报告罗马尼亚人群 NIPT 结果的研究。
Medicina (Kaunas). 2022 Jan 5;58(1):79. doi: 10.3390/medicina58010079.
10
Is routine prenatal screening and testing fundamentally incompatible with a commitment to reproductive choice? Learning from the historical context.常规产前筛查和检测是否从根本上与生殖选择权相悖？从历史背景中学习。
Med Health Care Philos. 2021 Mar;24(1):73-83. doi: 10.1007/s11019-020-09985-w. Epub 2020 Oct 30.
本文引用的文献
1
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.非侵入性染色体评估（NICE）研究：一项多中心前瞻性队列研究的结果，用于检测胎儿 21 三体和 18 三体。
Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8. doi: 10.1016/j.ajog.2012.05.021. Epub 2012 Jun 1.
2
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.基于母体外周血游离 DNA 测序的全基因组胎儿非整倍体检测
Obstet Gynecol. 2012 May;119(5):890-901. doi: 10.1097/AOG.0b013e31824fb482.
3
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.母体血浆 DNA 测序可靠地鉴定出 18 三体、13 三体和唐氏综合征：一项国际合作研究。
Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2.
4
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study.母体外周血游离 DNA 测序用于唐氏综合征的检测：一项国际临床验证研究。
Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
5
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study.应用多重母体外周血游离 DNA 测序进行非侵入性产前唐氏综合征 21 三体的检测：大规模有效性研究。
BMJ. 2011 Jan 11;342:c7401. doi: 10.1136/bmj.c7401.
6
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma.通过对母血中DNA进行大规模平行基因组测序实现胎儿染色体非整倍体的无创产前诊断。
Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63. doi: 10.1073/pnas.0810641105. Epub 2008 Dec 10.
7
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.通过对母血中的DNA进行鸟枪法测序来无创诊断胎儿非整倍体。
Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266-71. doi: 10.1073/pnas.0808319105. Epub 2008 Oct 6.
8
First-trimester or second-trimester screening, or both, for Down's syndrome.孕早期或孕中期唐氏综合征筛查，或两者皆做。
N Engl J Med. 2005 Nov 10;353(19):2001-11. doi: 10.1056/NEJMoa043693.
9
First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS).孕早期和孕中期唐氏综合征产前筛查：血清、尿液及超声筛查研究（SURUSS）结果
J Med Screen. 2003;10(2):56-104. doi: 10.1258/096914103321824133.
10
First-trimester screening for trisomies 21 and 18.孕早期21三体和18三体综合征筛查
N Engl J Med. 2003 Oct 9;349(15):1405-13. doi: 10.1056/NEJMoa025273.
Zotero 插件