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cfDNA screening performance: accounting for and reducing test failures.

作者信息

Cuckle H

机构信息

Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA.

出版信息

Ultrasound Obstet Gynecol. 2017 Jun;49(6):689-692. doi: 10.1002/uog.17492.

DOI:10.1002/uog.17492
PMID:28429561
Abstract
摘要

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1
cfDNA screening performance: accounting for and reducing test failures.循环游离DNA筛查性能:考虑并减少检测失败情况
Ultrasound Obstet Gynecol. 2017 Jun;49(6):689-692. doi: 10.1002/uog.17492.
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ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice.国际妇产科超声学会(ISUOG)关于cfDNA非整倍体检测对筛查策略和产前超声实践影响的更新共识声明。
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Positive view and increased likely uptake of follow-up testing with analysis of cell-free fetal DNA as alternative to invasive testing among Danish pregnant women.丹麦孕妇对使用游离胎儿 DNA 分析替代有创性检测进行后续检测的态度更为积极,接受度也更高。
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Incorporating thyroid markers in Down syndrome screening protocols.将甲状腺标志物纳入唐氏综合征筛查方案。
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Concerns following rapid implementation of first-line screening for aneuploidy by cell-free DNA analysis in the Belgian healthcare system.
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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.基于大型转诊基因诊断实验室数据的无细胞非侵入性产前筛查的阳性预测值估计
Am J Obstet Gynecol. 2017 Dec;217(6):691.e1-691.e6. doi: 10.1016/j.ajog.2017.10.005. Epub 2017 Oct 13.
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A unified approach to risk assessment for fetal aneuploidies.胎儿非整倍体风险评估的统一方法。
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First-trimester Down syndrome screening using additional serum markers with and without nuchal translucency and cell-free DNA.使用额外血清标志物联合或不联合颈部透明带及游离DNA进行孕早期唐氏综合征筛查。
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引用本文的文献

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Audit of the first > 7500 noninvasive prenatal aneuploidy tests in a Swiss genetics center.瑞士一家遗传学中心对首批超过7500例无创产前非整倍体检测的审核。
Arch Gynecol Obstet. 2022 May;305(5):1185-1192. doi: 10.1007/s00404-021-06203-7. Epub 2021 Sep 17.
2
Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis.无创产前筛查失败患者的随访:关于进一步产前诊断选择的思考
Front Genet. 2021 May 19;12:666648. doi: 10.3389/fgene.2021.666648. eCollection 2021.
3
Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies.
唐氏综合征 21 号染色体三体的产前筛查:不同筛查策略的比较性能和成本分析。
BMC Pregnancy Childbirth. 2020 Nov 23;20(1):713. doi: 10.1186/s12884-020-03394-w.
4
Clinical performance of DNA-based prenatal screening using single-nucleotide polymorphisms approach in Thai women with singleton pregnancy.泰国单胎妊娠孕妇应用基于单核苷酸多态性的 DNA 产前筛查的临床性能。
Mol Genet Genomic Med. 2020 Jul;8(7):e1256. doi: 10.1002/mgg3.1256. Epub 2020 Apr 24.