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2
Beyond the first trimester screen: can we predict who will choose invasive testing?早孕期筛查之后:我们能否预测谁将选择有创性检测?
Genet Med. 2011 Jun;13(6):539-44. doi: 10.1097/GIM.0b013e31820a7701.
3
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting.母体外周血游离 DNA 测序在胎儿 21 三体非侵入性检测中的临床应用研究
Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.
4
Get ready for the flood of fetal gene screening.为胎儿基因筛查热潮做好准备。
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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。
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Pregnancy as a proclamation of faith: Ultra-Orthodox Jewish women navigating the uncertainty of pregnancy and prenatal diagnosis.怀孕作为信仰的宣告:极端正统派犹太女性在怀孕和产前诊断的不确定性中探索。
Am J Med Genet A. 2011 Jan;155A(1):69-80. doi: 10.1002/ajmg.a.33774.
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Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age.母体外周血胎儿核酸分析的无创性产前诊断:成熟时代的到来。
Semin Fetal Neonatal Med. 2011 Apr;16(2):88-93. doi: 10.1016/j.siny.2010.10.003. Epub 2010 Nov 12.
8
Noninvasive prenatal diagnosis: 2010.
Clin Lab Med. 2010 Sep;30(3):655-65. doi: 10.1016/j.cll.2010.04.011.
9
Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics.使用测序技术对母体外周血中胎儿非整倍体进行无创产前检测的灵敏度仅受限于计数统计。
PLoS One. 2010 May 3;5(5):e10439. doi: 10.1371/journal.pone.0010439.
10
Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications.使用游离胎儿DNA技术的非侵入性产前诊断:应用与影响。
Public Health Genomics. 2010;13(4):246-55. doi: 10.1159/000279626. Epub 2010 Apr 15.

非侵入性产前诊断:孕妇的兴趣和预期接受度。

Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake.

机构信息

Department of Genetics, Stanford University, Stanford, CA, USA.

出版信息

Prenat Diagn. 2011 Dec;31(13):1292-9. doi: 10.1002/pd.2888. Epub 2011 Oct 26.

DOI:10.1002/pd.2888
PMID:22028097
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3225485/
Abstract

OBJECTIVE

To investigate pregnant women's level of future interest in noninvasive prenatal diagnosis (NIPD) and what factors might affect expected uptake of this testing.

METHOD

Written questionnaires were administered to women in their third trimester.

RESULTS

One hundred fourteen women returned the questionnaire (80.9% response rate). Of these, 71.9% reported interest in NIPD, 22.7% were ambivalent, and 5.4% were uninterested. Safety of the fetus was the single most important factor in 75% of women's decisions. Factors associated with increased interest in NIPD included: older age (p = 0.036), higher education (p = 0.013), Caucasian or Asian ethnicity (p = 0.011), and higher likelihood to terminate an affected pregnancy (p = 0.002). Nearly 20% of women reported that they would do whatever their doctor recommended regarding NIPD, and 94.4% of women wished to meet with a genetic counselor at some point to discuss NIPD.

CONCLUSION

The majority of pregnant women report hypothetical interest in NIPD, primarily because of increased safety for the fetus, although a significant minority are uninterested or ambivalent. Discussions with healthcare providers regarding NIPD, and their recommendations, are likely to be an important factor in women's decisions about this testing. As such, adequate discussion of the implications of prenatal diagnostic testing will be critical.

摘要

目的

调查孕妇对无创性产前诊断(NIPD)的未来兴趣水平,以及哪些因素可能影响对这种检测的预期接受程度。

方法

向处于妊娠晚期的女性发放书面问卷。

结果

114 名女性返回了问卷(80.9%的回复率)。其中,71.9%的女性报告对 NIPD 感兴趣,22.7%的女性持中立态度,5.4%的女性不感兴趣。胎儿的安全性是 75%的女性做出决定时最重要的因素。与对 NIPD 更感兴趣相关的因素包括:年龄较大(p=0.036)、受教育程度较高(p=0.013)、白种人或亚洲人种族(p=0.011),以及更有可能终止受影响的妊娠(p=0.002)。近 20%的女性报告说,她们会根据医生对 NIPD 的建议来做任何事情,94.4%的女性希望在某个时候与遗传咨询师会面,讨论 NIPD。

结论

大多数孕妇报告对 NIPD 有假设性的兴趣,主要是因为胎儿的安全性增加,尽管少数女性不感兴趣或持中立态度。与医疗保健提供者就 NIPD 进行讨论,以及他们的建议,可能是女性对这种检测做出决定的一个重要因素。因此,充分讨论产前诊断检测的影响将是至关重要的。