Evidence map›Paper›PMID 41873060›Full record

ArticleMolecular genetics & genomic medicine2026

Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience.

Ying Lin, Qun Lu, Yun Wu, Hang Li, Haoyang Feng, Chunyu Luo, Ping Hu, Dong Liang, Zhengfeng Xu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

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

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

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Ying LinDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, Jiangsu, China.
Qun LuDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, Jiangsu, China.
Yun WuDepartment of Ultrasound, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, Jiangsu, China.
Hang LiDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, Jiangsu, China.
Haoyang FengDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, Jiangsu, China.
Chunyu LuoDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, Jiangsu, China.
Ping HuDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, Jiangsu, China.ORCID https://orcid.org/0000-0002-7297-8847
Dong LiangDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, Jiangsu, China.
Zhengfeng XuDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, Jiangsu, China.ORCID https://orcid.org/0000-0002-7824-7578

Funding

Jiangsu Province Capability Improvement Project through Science, Technology and Education Jiangsu Provincial Medical Key Discipline ZDXK202211National Key Research and Development Program of China 2022YFC2703400Research Project of Jiangsu Province Association of Maternal and Child Health FYX202312
6 · The paper itself

Abstract

introductionTo assess the clinical efficacy of prenatal cfDNA screening for detecting sex chromosome aneuploidies (SCAs). MATERIAL AND

methodsWe conducted a retrospective study at a single center including women with singleton pregnancies who underwent prenatal cfDNA screening between January 2020 and December 2024. Cases with high-risk cfDNA screening results for SCAs were reviewed for confirmatory diagnostic results, prenatal ultrasound findings, and pregnancy outcomes. Positive predictive values (PPVs) were calculated for each SCA subtype, and associations between ultrasound findings and confirmed SCAs were analyzed.

resultsA total of 252 pregnancies (252/58720, 0.43%) were identified as high-risk cfDNA screening results for SCAs, including 224 fetal and 28 maternal cases. The fetal SCAs comprised 101 cases of 45,X, 37 of 47,XXX, 55 of 47,XXY, and 31 of 47,XYY. Among them, 173 underwent invasive diagnosis, confirming 90 true SCA cases with a PPV of 52.0%. For 45,X, there was a trend toward a higher detection rate in those with abnormal ultrasound findings compared to those with normal ultrasound results (4/20 vs. 8/127, p = 0.060), though it did not reach statistical significance; no significant differences were observed for sex chromosome trisomies. Of the 16 maternal SCA cases that underwent invasive testing, all fetuses had normal karyotypes.

conclusionsOur findings demonstrated prenatal cfDNA screening as a unique approach to achieve effective detection of fetal SCAs, particularly those that otherwise would be overlooked by routine prenatal ultrasound screening.

Indexed as

AneuploidyCell-Free Nucleic AcidsNoninvasive Prenatal TestingPrenatal DiagnosisSex Chromosome AberrationsSex Chromosome DisordersAdultFemaleHumansPregnancyRetrospective StudiesSex ChromosomesCell-Free Nucleic Acidsabnormal ultrasoundcfDNA screeningmaternal sex chromosome aneuploidiessex chromosome aneuploidies

Identifiers

PMID41873060
PMCPMC13097572

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.