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Rare autosomal trisomies detected by non-invasive prenatal testing.

作者信息

Benn Peter

机构信息

Department of Genetics and Genome Sciences, UConn Health, 263 Farmington Avenue, Farmington, CT, 06032, USA.

出版信息

Eur J Hum Genet. 2022 Dec;30(12):1318-1319. doi: 10.1038/s41431-022-01174-y. Epub 2022 Aug 31.

DOI:10.1038/s41431-022-01174-y
PMID:36045223
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9712667/
Abstract
摘要

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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.全基因组无创产前检测发现的额外结果的临床影响：TRIDENT-2研究的随访结果
Am J Hum Genet. 2022 Jul 7;109(7):1344. doi: 10.1016/j.ajhg.2022.06.003.
2
Aneuploidy in first trimester chorionic villi and spontaneous abortions: Windows into the origin and fate of aneuploidy through embryonic and fetal development.早孕期绒毛组织中的非整倍体与自然流产：胚胎和胎儿发育过程中非整倍体来源和命运的窗口。
Prenat Diagn. 2021 Apr;41(5):519-524. doi: 10.1002/pd.5795. Epub 2020 Aug 4.
3
Genome-wide cfDNA testing of maternal blood.孕妇血液的全基因组游离DNA检测。
Ultrasound Obstet Gynecol. 2020 Jan;55(1):13-14. doi: 10.1002/uog.21945.
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The cytogenetic constitution of human blastocysts: insights from comprehensive chromosome screening strategies.人类囊胚的细胞遗传学构成：全面染色体筛查策略的启示。
Hum Reprod Update. 2019 Jan 1;25(1):15-33. doi: 10.1093/humupd/dmy036.
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Confined placental mosaicism revisited: Impact on pregnancy characteristics and outcome.局限性胎盘嵌合体再探讨：对妊娠特征和结局的影响。
PLoS One. 2018 Apr 12;13(4):e0195905. doi: 10.1371/journal.pone.0195905. eCollection 2018.
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Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.非侵入性产前检测与隐匿性母体恶性肿瘤的意外发现。
JAMA. 2015 Jul 14;314(2):162-9. doi: 10.1001/jama.2015.7120.
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Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing.利用母体血浆 DNA 的大规模平行测序进行无创性产前检测：从分子核型分析到胎儿全基因组测序。
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Trisomy 16 and trisomy 16 Mosaicism: a review.16三体和16三体嵌合体：综述
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