Evidence map›Paper›PMID 40949908›Full record

ArticleTranslational pediatrics2025

Prenatal trio-based whole exome sequencing in fetuses with congenital pulmonary airway malformation.

Qi Yu, Junxian Chen, Haibo Li, Jiangyang Xue, Cuiju Meng, Haifa Hong, Wenjun Qin, Changshui Chen

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Article in Translational pediatrics, 2025. 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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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Qi Yu *Screening Center Office, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China.
Junxian Chen *Pediatric Cardiothoracic Surgery, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China.
Haibo LiThe Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China.
Jiangyang XueThe Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China.
Cuiju MengScreening Center Office, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China.
Haifa HongDepartment of Pediatric Cardiothoracic Surgery, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Wenjun QinDepartment of Pediatric Cardiothoracic Surgery, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Changshui ChenNingbo Key Laboratory of Genomic Medicine and Birth Defects Prevention, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Congenital pulmonary airway malformation (CPAM) is a rare lung abnormality characterized by the formation of cystic or solid masses in lung tissues. To date, the genetic etiology of CPAM has not been well described. The objective of this study is to explore the potential genetic etiology of CPAM through trio-based whole exome sequencing (WES). Methods: We performed WES on 13 fetuses diagnosed with CPAM and their parents. The filtered variants were further analyzed using bioinformatic prediction tools and enrichment analyses. Results: A total of 23 rare variants were identified in 11 fetuses with CPAM, including 3 homozygous mutations and 19 heterozygous mutations. Conclusions: In this study, we provide novel insights into the genetic architecture of CPAM and revealed a multifactorial etiology involving developmental, metabolic, and immune-related mechanisms, which can provide a foundation for future functional studies and genetic counseling in CPAM-affected families.

Indexed as

Congenital pulmonary airway malformation (CPAM)genetic mutationsprenatal diagnosiswhole exome sequencing (WES)

Identifiers

PMID40949908
PMCPMC12433060

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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.