Evidence map›Paper›PMID 38407562›Full record

Observational studyMolecular genetics & genomic medicine2024

Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province.

Yi Liu, Yuanyuan Zhang, Jue Wang, Shengnan Song, Huiyan Wang, Qian Meng, Yuan Zhan, Yetao Xu, Lizhou Sun

Open access · goldAbstract readObservational Study
In one paragraph

Observational study in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 28% of its field
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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Observational
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 at 3 institutions in 1 country.

Yi LiuDepartment of Obstetrics & Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.ORCID https://orcid.org/0000-0003-3199-7600
Yuanyuan ZhangDepartment of Obstetrics & Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Jue WangDepartment of Obstetrics & Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Shengnan SongDepartment of Obstetrics & Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Huiyan WangDepartment of Obstetrics & Gynecology, Changzhou Maternity and Child Health Care Hospital, Changzhou, Jiangsu, China.
Qian MengDepartment of Obstetrics & Gynecology, Lianyungang Maternity and Child Health Hospital, Lianyungang, Jiangsu, China.
Yuan ZhanDepartment of Obstetrics & Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Yetao XuDepartment of Obstetrics & Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Lizhou SunDepartment of Obstetrics & Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Jiangsu Province Hospital · CNLianyungang Maternal and Children’s Hospital · CNShanghai Changning Maternity and Infant Health Hospital · CN

Funding

Jiangsu Maternal and Child Health Research Association JSFY202102Jiangsu Provincial People's Hospital Excellent Young and Middle aged Talent Support Program Project YNRCQN030Maternal and child health "young talents" project FRC202151National Natural Science Foundation of China 82371696the China Postdoctoral Fund Project 2020M671394the Postdoctoral Fund Project in Jiangsu Province 2020Z087the Postdoctoral Fund Project in Nanjing 2021BSH209Youth Science and Technology Talent Support Project in Jiangsu Province JSTJ-2023-WJ020
6 · The paper itself

Abstract

backgroundGenetic disorders ascribe to half of cases of congenital hearing loss. Hearing screening is significant in detecting hearing loss (HL) but weak at diagnosis, which can be complemented by genetic screening.

methodsTo find a feasible method to accomplish genetic screening and evaluate its advantage when combined with hearing screening, between 1 January 2022, and 10 December 2023, we performed an observational cohort study based on 2488 neonates from the Han population at three hospitals in Jiangsu province. Genetic screening for 20 variants in four common HL-associated genes by multicolor melting curve analysis (MMCA) and hearing screening were offered concurrently to all participants.

resultsIn total, 170 (6.8%) of 2488 eligible neonates were detected at least one variant and among them, the proportion of referral was higher (p < 0.05). Genetic screening combined with hearing screening was associated with a 25.0% increase (2 of 8) in discovering cases of diagnosed hearing loss that were missed by hearing screening.

conclusionThis study suggests that genetic screening combined with hearing screening by MMCA is effective at finding potential HL cases and practical to be validated in other places.

Indexed as

DeafnessHearing LossHearingHumansInfant, NewbornReferral and Consultationgenetic screeninghearing losshearing screeningmelt-curve analysisneonate

Identifiers

PMID38407562
PMCPMC10847707
OpenAlexW4391607966

What OpenQuestion holds

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Registered trials

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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.