Evidence map›Paper›PMID 38644482›Full record

ArticleMolecular cytogenetics2024

Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings.

Ye Shi, Fang-Xiu Zheng, Jing Wang, Qin Zhou, Ying-Ping Chen, Bin Zhang

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular cytogenetics, 2024. 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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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

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Ye Shi *Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, China No. 16 Ding Xiang Road, Changzhou, 213003, Jiangsu Province, China.
Fang-Xiu Zheng *Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, China No. 16 Ding Xiang Road, Changzhou, 213003, Jiangsu Province, China.
Jing WangChangzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, China No. 16 Ding Xiang Road, Changzhou, 213003, Jiangsu Province, China.
Qin ZhouChangzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, China No. 16 Ding Xiang Road, Changzhou, 213003, Jiangsu Province, China.
Ying-Ping ChenChangzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, China No. 16 Ding Xiang Road, Changzhou, 213003, Jiangsu Province, China.
Bin ZhangChangzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, China No. 16 Ding Xiang Road, Changzhou, 213003, Jiangsu Province, China. binzhang@njmu.edu.cn.ORCID http://orcid.org/0000-0002-1627-8408
Nanjing Medical University · CNChangzhou No.2 People's Hospital · CN

Funding

Changzhou science and technology support project (Social development) CE20225066National Nat‑ ural Science Foundation Youth Fund 82103853Top Talent of Changzhou "The 14th Five-Year Plan" High-Level Health Talents Training Project 2022CZBJ089
6 · The paper itself

Abstract

backgroundNoninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions. This study aimed to investigate the application efficiency of NIPT for detecting chromosomal microduplications.

methodsFour cases of copy number gains on the long arm of chromosome 17 (17q12) were detected using NIPT and further confirmed using copy number variation (CNV) analysis based on chromosome microarray analysis (CMA).

resultsThe prenatal diagnosis CMA results of the three cases showed that the microduplications in 17q12 (ranging from 1.5 to 1.9 Mb) were consistent with the NIPT results. The karyotypic analysis excluded other possible unbalanced rearrangements. The positive predictive value of NIPT for detecting chromosomal 17q12 microduplication was 75.0%.

conclusionsNIPT has a good screening effect on 17q12 syndrome through prenatal diagnosis, therefore it could be considered for screening fetal CNV during the second trimester. With the clinical application of NIPT, invasive prenatal diagnoses could be effectively reduced while also improving the detection rate of fetal CNV.

Indexed as

17q12 duplicationCMAKaryotypeNIPTPrenatal diagnosis

Identifiers

PMID38644482
PMCPMC11034082
OpenAlexW4395007484

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