Evidence map›Paper›PMID 42344521›Full record

ArticleFrontiers in genetics2026

Fetal Y chromosome abnormalities cause false-low fetal fraction in NIPT: a retrospective analysis of 24,101 pregnant women.

Siqi Hu, Lu Zhou, Yong Xu, Weipeng Wu, Niping Jiang, Ying Hao, Hu Zhang, Yang Liu, Weiqing Wu, Bo Wu and 1 more

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In one paragraph

Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Siqi HuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Lu ZhouThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Yong XuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Weipeng WuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Niping JiangThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Ying HaoThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Hu ZhangThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Yang LiuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Weiqing WuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Bo WuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Wenlan LiuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Low fetal fraction is a common cause of NIPT no-call results, leading to repeat sampling and delayed clinical decisions. In cases of fetal sex chromosome abnormalities (SCAs), the standard Y chromosome-based method for estimating fetal fraction (FF) may be unreliable, potentially leading to misinterpretation of low-FF results. Methods: We retrospectively analyzed 24,101 pregnant women who underwent NIPT between January 2023 and January 2025. FF was estimated using the Y chromosome-based method for male fetuses and FF-QuantSC for female fetuses. Confirmatory invasive testing was performed for high-risk or failed cases. Results: The SCA prevalence was significantly higher in the low-FF group (FF<3.5%, n = 70) than in the adequate-FF group (FF ≥ 3.5%, n = 24,020), representing a ∼78-fold increased risk (11.43% versus 0.21%; OR = 78.227, Conclusion: Low FF in NIPT is strongly associated with fetal Y-chromosome abnormalities, suggesting that Y chromosome-based FF estimation may produce a "false-low" FF in some cases with fetal Y-chromosome abnormalities. We suggest that re-estimating FF using FF-QuantSC combined with Y-chromosome read distribution analysis may be considered before reporting test failure.

Indexed as

cell-free DNAfetal fractionFF-QuantSCnon-invasive prenatal testing (NIPT)sex chromosome abnormalitiesy-chromosome abnormalities

Identifiers

PMID42344521
PMCPMC13290195

What Socratic holds

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LicenceCC BY
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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 Socratic graph.