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Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).提高无创产前筛查（NIPS）的阳性预测值。
PLoS One. 2017 Mar 1;12(3):e0167130. doi: 10.1371/journal.pone.0167130. eCollection 2017.
2
Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.P2RY8-CRLF2阳性儿童急性淋巴细胞白血病的基因组和转录图谱
Leukemia. 2017 Jul;31(7):1491-1501. doi: 10.1038/leu.2016.365. Epub 2016 Nov 30.
3
Deregulation of DUX4 and ERG in acute lymphoblastic leukemia.急性淋巴细胞白血病中DUX4和ERG的失调
Nat Genet. 2016 Dec;48(12):1481-1489. doi: 10.1038/ng.3691. Epub 2016 Oct 24.
4
Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies.一种用于血液系统恶性肿瘤的定制下一代测序临床检测方法的验证与实施
J Mol Diagn. 2016 Jul;18(4):507-15. doi: 10.1016/j.jmoldx.2016.02.003.
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The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.2016 年版世界卫生组织髓系肿瘤和急性白血病分类。
Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
6
Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.实践公告第 162 号：遗传疾病的产前诊断检测。
Obstet Gynecol. 2016 May;127(5):e108-e122. doi: 10.1097/AOG.0000000000001405.
7
Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.在无创性产前检测期间对孕妇进行癌症的症状前识别。
JAMA Oncol. 2015 Sep;1(6):814-9. doi: 10.1001/jamaoncol.2015.1883.
8
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.
9
Copy-number variation and false positive prenatal aneuploidy screening results.拷贝数变异与产前非整倍体筛查结果的假阳性
N Engl J Med. 2015 Apr 23;372(17):1639-45. doi: 10.1056/NEJMoa1408408. Epub 2015 Apr 1.
10
Cell-free DNA analysis for noninvasive examination of trisomy.游离 DNA 分析用于非侵入性的三体检查。
N Engl J Med. 2015 Apr 23;372(17):1589-97. doi: 10.1056/NEJMoa1407349. Epub 2015 Apr 1.

产前游离DNA基因筛查检测到的母体iAMP21急性淋巴细胞白血病

Maternal iAMP21 acute lymphoblastic leukemia detected on prenatal cell-free DNA genetic screening.

作者信息

Luskin Marlise R, Discenza Marie N, Easter Sarah Rae, Dal Cin Paola, Owen Renius, Ilagan Bernard, Masiello Meredith, Lane Andrew A

机构信息

Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.

Harvard Medical School, Boston, MA.

出版信息

Blood Adv. 2017 Aug 15;1(19):1491-1494. doi: 10.1182/bloodadvances.2017008680. eCollection 2017 Aug 22.

DOI:10.1182/bloodadvances.2017008680
PMID:29296790
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5728472/
Abstract

cfDNA sequencing for fetal aneuploidy may detect chromosomal abnormalities representative of maternal malignancy.Maternal malignancy must be considered when abnormal cfDNA sequencing for fetal aneuploidy is associated with normal fetal karyotype.

摘要

用于胎儿非整倍体检测的cfDNA测序可能会检测到代表母体恶性肿瘤的染色体异常。当胎儿非整倍体的cfDNA测序结果异常而胎儿核型正常时，必须考虑母体恶性肿瘤的可能性。