Clinical Features and Pregnancy Outcomes of Women with Abnormal Cell-free Fetal DNA Test Results

Overview

Journal Ann Transl Med

Publisher AME Publishing Company

Date 2019 Sep 3

PMID 31475187

Citations 13

Authors

Qin Zhou

Zhi-Ping Zhu

Bin Zhang

Bin Yu

Zheng-Mao Cai

Pei Yuan

Affiliations

Soon will be listed here.

Abstract

Background: This study was performed to examine the factors affecting attitudes regarding prenatal diagnosis and clinical treatment by analyzing the clinical data of women with positive noninvasive prenatal testing (NIPT) results.

Methods: We collected clinical data for women with positive NIPT results. The women received prenatal genetic consultation. The women with true positive results received prenatal genetic counseling again, and decided whether to continue or terminate their pregnancy.

Results: A total of 228 women received positive NIPT results. The prenatal diagnosis was accepted in 174 cases (76.3%), and 124 women were confirmed to have true positive NIPT results. The positive predictive values (PPV) of T21/T18/T13 and fetal sex chromosome aneuploidy were 88.4% and 42.9%, respectively. All (99/99, 100%) of the women with T21/T18/T13 terminated their pregnancies, while 25.0% (6/24) of women with fetal SCA continued their pregnancies. An NIPT result of Chr(9) microduplication was obtained in one woman, which was confirmed by chromosomal microarray analysis (CMA).

Conclusions: NIPT exhibited good detection accuracy for T21/T18/T13, and also contributed to identifying fetal SCA and substructural chromosomal abnormalities. With a positive NIPT result, the attitudes of pregnant women regarding prenatal diagnosis and clinical treatment are related to the severity of disease, cognitive ability, and the level of prenatal genetic counseling.

Citing Articles

Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.

Yang S, Zhuang Y, Li J, Fu X PLoS One. 2025; 20(1):e0312184.

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Evaluation of the clinical utility of NIPT-plus and analysis of adverse pregnancy outcomes.

Zhang L, Chang B, Wang L, Mijiti G, Bahetibieke K, Xue S Arch Gynecol Obstet. 2024; 310(6):2973-2981.

PMID: 39505749 DOI: 10.1007/s00404-024-07811-9.

Amniotic fluid karyotype analysis and prenatal diagnosis strategy of 3117 pregnant women with amniocentesis indication.

Liu Y, Sun X, Lv G, Liu J, Sun C, Mu K J Comp Eff Res. 2023; :e220168.

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Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China.

Zou Y, Feng C, Qin J, Wang X, Huang T, Yang Y Front Genet. 2023; 13:1073851.

PMID: 36712884 PMC: 9880269. DOI: 10.3389/fgene.2022.1073851.

Non-invasive prenatal test findings in 41,819 pregnant women: results from a clinical laboratory in southern China.

Liu S, Chang Q, Yang F, Xu Y, Jia B, Wu R Arch Gynecol Obstet. 2023; 308(3):787-795.

PMID: 36602559 DOI: 10.1007/s00404-022-06908-3.

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