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非侵入性产前筛查试验（NIPT）出现异常结果后诊断为母亲霍奇金淋巴瘤：两例报告

Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases.

作者信息

Castellino Alessia, Elba Simona, Sorasio Roberto, Castellino Claudia, Bonferroni Margherita, Grasso Mariella, Grosso Enrico, Giacchello Rosalba, Signorile Anna Franca, Celeghini Ivana, Mattei Daniele, Mordini Nicola, Foglietta Myriam, Masturzo Bianca, Priotto Roberto, Zonta Andrea, Rapezzi Davide, Massaia Massimo

机构信息

AO Santa Croce e Carle di Cuneo Cuneo Italy.

AOU Citta' della Salute e della Scienza Torino Italy.

出版信息

Clin Case Rep. 2021 Jan 13;9(3):1066-1071. doi: 10.1002/ccr3.3593. eCollection 2021 Mar.

DOI:10.1002/ccr3.3593
PMID:33768784
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7981684/
Abstract

Abnormal NIPT results, contrasting with normal fetus development, could disclose maternal malignancy, and this possibility should always be explained during pretest counseling. In this case, a complete diagnostic assessment is recommended and should be managed by a multidisciplinary team to define the best timing for diagnostic procedures, delivery, and treatment.

摘要

与正常胎儿发育情况不同的无创产前检测（NIPT）异常结果可能提示母体恶性肿瘤，在检测前咨询时应始终向患者解释这种可能性。对于这种情况，建议进行全面的诊断评估，应由多学科团队负责，以确定诊断程序、分娩和治疗的最佳时机。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59a9/7981684/ae964f836d9e/CCR3-9-1066-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59a9/7981684/a570fb541cd2/CCR3-9-1066-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59a9/7981684/ae964f836d9e/CCR3-9-1066-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59a9/7981684/a570fb541cd2/CCR3-9-1066-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59a9/7981684/ae964f836d9e/CCR3-9-1066-g002.jpg

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本文引用的文献

1
Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review.非侵入性产前唐氏筛查检测异常的原因：系统评价。
Taiwan J Obstet Gynecol. 2020 Jan;59(1):16-20. doi: 10.1016/j.tjog.2019.11.003.
2
Liquid biopsy in tissue-born lymphomas.组织源性淋巴瘤中的液体活检
Swiss Med Wkly. 2019 Jan 23;149:w14709. doi: 10.4414/smw.2019.14709. eCollection 2019 Jan 14.
3
Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies: Case reports and a literature review.
无创产前检测（NIPT）中的拷贝数变异图谱可识别并存的母体恶性肿瘤：病例报告及文献综述
Taiwan J Obstet Gynecol. 2018 Dec;57(6):871-877. doi: 10.1016/j.tjog.2018.10.032.
4
Current Controversies in Prenatal Diagnosis 2: NIPT results suggesting maternal cancer should always be disclosed.产前诊断的当前争议2：无创产前检测（NIPT）结果提示母体癌症时应始终予以披露。
Prenat Diagn. 2019 Apr;39(5):339-343. doi: 10.1002/pd.5379. Epub 2018 Dec 10.
5
Maternal Malignancy Evaluation After Discordant Cell-Free DNA Results.不一致的游离胎儿 DNA 检测结果后对母体恶性肿瘤的评估。
Obstet Gynecol. 2018 Mar;131(3):464-468. doi: 10.1097/AOG.0000000000002474.
6
Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results.寻找病因：母体偶然发现的异常可解释不一致的产前游离 DNA 测序结果。
Genet Med. 2018 Sep;20(9):910-917. doi: 10.1038/gim.2017.219. Epub 2017 Dec 7.
7
Incidental Detection of Maternal Neoplasia in Noninvasive Prenatal Testing.在无创性产前检测中偶然发现的母体肿瘤。
Clin Chem. 2018 Feb;64(2):329-335. doi: 10.1373/clinchem.2017.277517. Epub 2017 Oct 5.
8
Cell-free DNA results lead to unexpected diagnosis.游离DNA检测结果带来意外诊断。
Clin Case Rep. 2017 Jul 3;5(8):1323-1326. doi: 10.1002/ccr3.1051. eCollection 2017 Aug.
9
Discordant non-invasive prenatal testing (NIPT) - a systematic review.不一致的无创产前检测（NIPT）-系统评价。
Prenat Diagn. 2017 Jun;37(6):527-539. doi: 10.1002/pd.5049. Epub 2017 Jun 1.
10
Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test.通过全基因组无创产前检测发现一例在t(9;22)易位断点处存在缺失的慢性髓性白血病病例。
Prenat Diagn. 2016 Aug;36(8):760-5. doi: 10.1002/pd.4857. Epub 2016 Jul 19.