无创产前检测：当结果表明产妇患有癌症时

IF 0.8 4区生物学 Q4 GENETICS & HEREDITY

Medizinische Genetik Pub Date : 2023-11-29 DOI:10.1515/medgen-2023-2055

L. Lenaerts, M. Theunis, Frederi Amant, J. Vermeesch

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引用次数: 0

摘要

摘要无创产前检测（NIPT）的初衷是筛查母体血液中的无细胞 DNA（cfDNA）是否存在常见的胎儿三体综合征，但它也可能导致偶然发现隐性母体恶性肿瘤，这一点现已得到公认。回顾性评估结果表明，在 cfDNA 中检测到多个拷贝数改变尤其提示肿瘤的萌芽，而癌症的检出率不仅取决于肿瘤生物学，还取决于应用的 NIPT 技术和下游诊断检查。由于在妊娠期发现母体癌症对孕妇和胎儿都有影响，因此需要进行前瞻性研究，为最佳临床实践和患者预后方面的临床实用性提供证据。

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Non-invasive prenatal testing: when results suggests maternal cancer

Abstract It is now well-established that non-invasive prenatal testing (NIPT), originally designed to screen cell-free DNA (cfDNA) in maternal blood for the presence of common fetal trisomies, can lead to incidental detection of occult maternal malignancies. Retrospective evaluations have demonstrated that the detection of multiple copy number alterations in cfDNA is particularly suggestive of an incipient tumor and that cancer detection rates not only depend on tumor biology but also on applied NIPT technologies and downstream diagnostic investigations. Since the identification of a maternal cancer in pregnancy has implications for both woman and the unborn child, prospective studies are needed to provide evidence on best clinical practices and on clinical utility in terms of patient outcomes.

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来源期刊

Medizinische Genetik Medicine-Genetics (clinical)

CiteScore

1.40

自引率

9.10%

发文量

审稿时长

>12 weeks

期刊介绍： medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.