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[Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2026 Vol.43(4) p. 301-306

Zhang Z, Shu X, Hou Y

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Non-invasive prenatal testing (NIPT) based on fetal free DNA is a non-invasive technique to screen for common fetal aneuploidies by analyzing cell-free fetal DNA (cffDNA) in the peripheral blood of pr

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APA Zhang Z, Shu X, Hou Y (2026). [Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors].. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 43(4), 301-306. https://doi.org/10.3760/cma.j.cn511374-20251217-00727
MLA Zhang Z, et al.. "[Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors].." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, vol. 43, no. 4, 2026, pp. 301-306.
PMID 41918387

Abstract

Non-invasive prenatal testing (NIPT) based on fetal free DNA is a non-invasive technique to screen for common fetal aneuploidies by analyzing cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women. This technique has opened a new era of prenatal screening for its high safety and reliability. In recent years, it has been shown that NIPT can not only screen for fetal aneuploidies, but may also reveal maternal genomic abnormalities. The incidental detection of maternal tumors has aroused widespread concern in the clinical settings. The aim of this review is to systematically summarize the research progress of NIPT technique in incidental detection of maternal tumors, and to discuss its clinical significance, technical challenges, and future development direction. It has been found that multiple chromosome aneuploidies (MCAs) in NIPT detection is one of the important biomarkers suggesting occult maternal malignant tumors. In this paper, the relevant progress of NIPT technique in the incidental discovery of maternal tumors were reviewed in order to provide a reference for individualized and standardized application of NIPT technique in maternal health monitoring.

MeSH Terms

Humans; Female; Pregnancy; Cell-Free Nucleic Acids; Prenatal Diagnosis; Incidental Findings; Neoplasms; Noninvasive Prenatal Testing; Aneuploidy; Fetus

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