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不止是偶发瘤:不可报告的无创产前检测结果

More than an Incidentaloma: The Nonreportable NIPT.

作者信息

Jay Allison M, Mason Brian, Lebovic Daniel, Chuba Paul

机构信息

Ascension St. John Genetics, 19229 Mack Ave, Grosse Pointe, MI 48236, USA.

Ascension St. John Obstetrics and Gynecology, 22151 Moross Rd I, Suite, Grosse Pointe, MI 48236, USA.

出版信息

Case Rep Obstet Gynecol. 2022 Apr 30;2022:2496057. doi: 10.1155/2022/2496057. eCollection 2022.

Abstract

Noninvasive prenatal testing (NIPT), which utilizes a maternal blood sample to detect fetal gender and screen for fetal aneuploidy (abnormal chromosomes), is widely used in obstetrics to screen for Trisomies 21, 18, and 13. Per the literature, approximately 0.3% of pregnant woman's results are nonreportable. Reasons include low fetal fraction, insufficient DNA, vanishing twin, twin pregnancy, clonal mosaicism, and maternal neoplasia. Here, we describe a 25-year-old G2P1 pregnant woman who had two nonreportable NIPT results and subsequently was diagnosed with lymphoma. We discuss the importance of clinical exam in correlation with the results to offer comprehensive evaluation of the patient with a nonreportable finding, given malignancy occurs in 1/1000 pregnant women. This report overviews proposed management guidelines for pregnant women with a nonreportable result and helps to address discomfort the treating physician may feel in discussing this result with their patient.

摘要

无创产前检测(NIPT)利用孕妇血液样本检测胎儿性别并筛查胎儿非整倍体(染色体异常),在产科中广泛用于筛查21、18和13三体综合征。根据文献,约0.3%孕妇的检测结果无法报告。原因包括胎儿游离DNA比例低、DNA不足、消失双胎、双胎妊娠、克隆性嵌合体和母体肿瘤。在此,我们描述了一名25岁、孕2产1的孕妇,其无创产前检测结果两次无法报告,随后被诊断为淋巴瘤。鉴于每1000名孕妇中会有1例发生恶性肿瘤,我们讨论了结合检测结果进行临床检查的重要性,以便对检测结果无法报告的患者进行全面评估。本报告概述了针对检测结果无法报告的孕妇的建议管理指南,并有助于解决治疗医生在与患者讨论该结果时可能感到的不适。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c15/9078803/8aea15098a98/CRIOG2022-2496057.001.jpg

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