Evidence map›Paper›PMID 39988971›Full record

ArticleMolecular genetics & genomic medicine2025

Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.

Chenyang Xu, Yanbao Xiang, Xiaoling Lin, Qifan Ma, Yunzhi Xu, Huanzheng Li, Shaohua Tang, Xueqin Xu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2025. 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

8 authors.

Chenyang XuKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.ORCID https://orcid.org/0000-0001-8102-6074
Yanbao XiangKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Xiaoling LinKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Qifan MaKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Yunzhi XuKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Huanzheng LiKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.ORCID https://orcid.org/0000-0003-4625-3057
Shaohua TangKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.ORCID https://orcid.org/0000-0002-2918-8532
Xueqin XuKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.

Funding

Medical and Health of Science and Technology Project of Zhejiang Province 2024KY1623Medical and Health of Science and Technology Project of Zhejiang Province 2025KY313Public Welfare Technology Application Research Project of Zhejiang Province LGF21H260005Science and Technology Program of Wenzhou Y20220732Science and Technology Program of Wenzhou Y2023782
6 · The paper itself

Abstract

backgroundAlthough spinal muscular atrophy (SMA), hereditary hearing loss (HL), and thalassemia are common monogenic genetic diseases, the carrier frequencies and variant spectrums of these diseases show regional differences, even within China. Their carrier frequencies and variant spectrums in Southern Zhejiang, China are unclear.

methodsSaliva was collected for carrier screening and amniotic fluid, villi, and peripheral blood were collected for prenatal diagnosis. Real-time quantitative polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) were used to detect the copy number of SMN1 exon 7. PCR coupled with flow-through hybridization, MLPA, and Sanger sequencing were used to detect common genes for HL and thalassemia.

resultsCommon variants were detected in 15.14% (2109/13926) of the 13,926 women of reproductive age from South Zhejiang who participated in this study. The carrier frequencies of SMA, HL, and thalassemia were 2.11% (294/13926), 4.87% (678/13926), and 8.82% (1228/13926), respectively. In total, 56.47% (1117/1978) of husbands were successfully recalled. The total number of at-risk couples was 111 (111/13926, 0.80%). Further, 47 families underwent prenatal diagnosis. A total of 13 (13/13926; 0.93‰) affected pregnancies were identified.

conclusionOur findings confirm that SMA, HL, and thalassemia are highly prevalent in Southern Zhejiang, with some regional specificity, as compared with recent large population-based surveys in China. Further, a rapid saliva sample-based non-invasive screening method was established, and its feasibility was demonstrated.

Indexed as

Genetic Carrier ScreeningHearing LossMuscular Atrophy, SpinalSalivaThalassemiaAdultChinaFemaleHumansNoninvasive Prenatal TestingPregnancyPrenatal DiagnosisSurvival of Motor Neuron 1 ProteinSMN1 protein, humanSurvival of Motor Neuron 1 Proteincarrier screeninghereditary hearing lossSMAthalassemia

Identifiers

PMID39988971
PMCPMC11847965

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.