Evidence map›Paper›PMID 39966114›Full record

ArticleArchives of gynecology and obstetrics2025

Factors, pregnancy outcomes, and management associated with non-reportable results in prenatal cell-free DNA testing.

Hailing Yin, Jue Wang, Xin Wu, Mingzhu Miao, Ya Wang, Jiale Shi, Xi Wang, Xiang Ma

Abstract read
In one paragraph

Article in Archives of gynecology and obstetrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Hailing YinDepartment of Prenatal Diagnosis, Jiangsu Province People's Hospital, Nanjing Medical University First Affiliated Hospital, Nanjing, 210036, China.
Jue WangDepartment of Prenatal Diagnosis, Jiangsu Province People's Hospital, Nanjing Medical University First Affiliated Hospital, Nanjing, 210036, China.
Xin WuDepartment of Prenatal Diagnosis, Jiangsu Province People's Hospital, Nanjing Medical University First Affiliated Hospital, Nanjing, 210036, China.
Mingzhu MiaoDepartment of Prenatal Diagnosis, Jiangsu Province People's Hospital, Nanjing Medical University First Affiliated Hospital, Nanjing, 210036, China.
Ya WangDepartment of Prenatal Diagnosis, Jiangsu Province People's Hospital, Nanjing Medical University First Affiliated Hospital, Nanjing, 210036, China.
Jiale ShiDepartment of Prenatal Diagnosis, Jiangsu Province People's Hospital, Nanjing Medical University First Affiliated Hospital, Nanjing, 210036, China.
Xi WangDepartment of Prenatal Diagnosis, Jiangsu Province People's Hospital, Nanjing Medical University First Affiliated Hospital, Nanjing, 210036, China. xiwang@njmu.edu.cn.
Xiang MaDepartment of Prenatal Diagnosis, Jiangsu Province People's Hospital, Nanjing Medical University First Affiliated Hospital, Nanjing, 210036, China. sxmaxiang@126.com.

Funding

Applied Basic Research Programs of Science and Technology Commission Foundation of Jiangsu Province BK20220201Jiangsu Provincial Science, Technology Department Social Development Surface Program BE2021743the National Key Research and Development Program of China 2021YFC2700402
6 · The paper itself

Abstract

purposeTo offer more effective strategies by classification of non-reportable results for physicians to manage those pregnancies.

methodsFrom July 2022 to May 2024, a total of 14,073 prenatal cell-free DNA (cfDNA) tests were performed by massively parallel sequencing (MPS) in our genetic laboratory and 52 cases received non-reportable results caused by different reasons. Chi-square analysis and logistic regression analysis were used to analyze the risk factors contributing to non-reportable results. The redraw test results and the pregnancy outcomes were collected and analyzed.

resultsOverall, 52 (0.37%) of 14,073 pregnant women had non-reportable cfDNA testing results after the first draw. Multivariate logistic regression analysis revealed that pregnancies conceived by in vitro fertilization (IVF) (OR = 2.42, 95% CI 1.08-5.42, P = 0.03) and heparin use (OR = 7.04, 95% CI 2.40-20.62, P < 0.001) were independent factors for non-reportable cfDNA test results. In 52 cases with non-reportable results, 27 (51.92%) cases had borderline Z scores, 15 (28.85%) cases had a low fetal fraction (< 4.0%), 5 (9.62%) cases indicated multiple chromosomal aberrations (MCA, ≥ 4), and 5 (9.62%) cases had data fluctuation in sex chromosomes. All 52 (100%) cases chose to have a redraw test. The overall success rate of redraw test was 65.38%; however, cases with MCA mainly caused by cfDNA from uterine fibroids or maternal malignancies had relatively low success rate of redraw testing. Compared to pregnant women without risk factors, those with caution indications and with low fetal fraction (LFF) had a lower chance to obtain valid redraw testing results (100.00% vs 16.67%, P = 0.002). The abnormal conditions of perinatal women and infants were more frequent in the cases with non-reportable results after redraw tests (2.94% vs 14.71%, P = 0.027; 7.41% vs 14.81%, P = 0.038).

conclusionRepeated testing was not suitable for all cases with non-reportable results. Invasive prenatal diagnosis should be recommended for cases with MCA, cases with caution indications and with low fetal fraction for the first non-reportable results, cases with consecutive non-reportable cfDNA results. More attention should be paid to the cases with non-reportable cfDNA results, especially to the cases with non-reportable redraw testing results.

Indexed as

Cell-Free Nucleic AcidsNoninvasive Prenatal TestingPregnancy OutcomePrenatal DiagnosisAdultFemaleFertilization in VitroHigh-Throughput Nucleotide SequencingHumansPregnancyRisk FactorsCell-Free Nucleic AcidsCell-free DNAManagementNon-reportable resultsPregnancy outcomes

Identifiers

PMID39966114
PMCPMC12176953

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.