Non-invasive prenatal testing: when results suggests maternal cancer

被引：2

作者：

Lenaerts, Liesbeth ^{[1
]}

Theunis, Miel ^{[2
]}

Amant, Frederic ^{[1
,3
,4
]}

Vermeesch, Joris R. ^{[2
,5
]}

机构：

[1] Katholieke Univ Leuven, Dept Oncol, Lab Gynecol Oncol, Leuven, Belgium

[2] Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium

[3] Univ Hosp Leuven, Dept Gynecol & Obstet, Leuven, Belgium

[4] Netherlands Canc Inst, Dept Gynecol, Amsterdam, Netherlands

[5] Katholieke Univ Leuven, Dept Human Genet, Lab Cytogenet & Genome Res, Leuven, Belgium

来源：

MEDIZINISCHE GENETIK | 2023年 / 35卷 / 04期

关键词：

Cell-free DNA; non-invasive prenatal testing; incidental finding; maternal malignancy; CELL-FREE DNA; INCIDENTAL DETECTION; MANAGEMENT; PREGNANCY; PLASMA; WOMEN; FETAL;

D O I：

10.1515/medgen-2023-2055

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：285 / 295

页数：11

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