Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease

Abstract Prenatal diagnosis of congenital heart disease (CHD) relies primarily on fetal echocardiography conducted at mid‐gestational age—the sensitivity of which varies among centers and practitioners. An objective method for early diagnosis is needed. Here, we conducted a case–control study recrui...

Full description

Saved in:
Bibliographic Details
Main Authors: Ya‐Nan Yin, Li Cao, Jie Wang, Yu‐Ling Chen, Hai‐Ou Yang, Su‐Bei Tan, Ke Cai, Zhe‐Qi Chen, Jie Xiang, Yuan‐Xin Yang, Hao‐Ran Geng, Ze‐Yu Zhou, An‐Na Shen, Xiang‐Yu Zhou, Yan Shi, Rui Zhao, Kun Sun, Chen Ding, Jian‐Yuan Zhao
Format: Article
Language:English
Published: Springer Nature 2023-10-01
Series:EMBO Molecular Medicine
Subjects:
Online Access:https://doi.org/10.15252/emmm.202317745
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849342644801503232
author Ya‐Nan Yin
Li Cao
Jie Wang
Yu‐Ling Chen
Hai‐Ou Yang
Su‐Bei Tan
Ke Cai
Zhe‐Qi Chen
Jie Xiang
Yuan‐Xin Yang
Hao‐Ran Geng
Ze‐Yu Zhou
An‐Na Shen
Xiang‐Yu Zhou
Yan Shi
Rui Zhao
Kun Sun
Chen Ding
Jian‐Yuan Zhao
author_facet Ya‐Nan Yin
Li Cao
Jie Wang
Yu‐Ling Chen
Hai‐Ou Yang
Su‐Bei Tan
Ke Cai
Zhe‐Qi Chen
Jie Xiang
Yuan‐Xin Yang
Hao‐Ran Geng
Ze‐Yu Zhou
An‐Na Shen
Xiang‐Yu Zhou
Yan Shi
Rui Zhao
Kun Sun
Chen Ding
Jian‐Yuan Zhao
author_sort Ya‐Nan Yin
collection DOAJ
description Abstract Prenatal diagnosis of congenital heart disease (CHD) relies primarily on fetal echocardiography conducted at mid‐gestational age—the sensitivity of which varies among centers and practitioners. An objective method for early diagnosis is needed. Here, we conducted a case–control study recruiting 103 pregnant women with healthy offspring and 104 cases with CHD offspring, including VSD (42/104), ASD (20/104), and other CHD phenotypes. Plasma was collected during the first trimester and proteomic analysis was performed. Principal component analysis revealed considerable differences between the controls and the CHDs. Among the significantly altered proteins, 25 upregulated proteins in CHDs were enriched in amino acid metabolism, extracellular matrix receptor, and actin skeleton regulation, whereas 49 downregulated proteins were enriched in carbohydrate metabolism, cardiac muscle contraction, and cardiomyopathy. The machine learning model reached an area under the curve of 0.964 and was highly accurate in recognizing CHDs. This study provides a highly valuable proteomics resource to better recognize the cause of CHD and has developed a reliable objective method for the early recognition of CHD, facilitating early intervention and better prognosis.
format Article
id doaj-art-dd907fbfb8884880b6fe567f4638334e
institution Kabale University
issn 1757-4676
1757-4684
language English
publishDate 2023-10-01
publisher Springer Nature
record_format Article
series EMBO Molecular Medicine
spelling doaj-art-dd907fbfb8884880b6fe567f4638334e2025-08-20T03:43:20ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842023-10-01151211610.15252/emmm.202317745Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart diseaseYa‐Nan Yin0Li Cao1Jie Wang2Yu‐Ling Chen3Hai‐Ou Yang4Su‐Bei Tan5Ke Cai6Zhe‐Qi Chen7Jie Xiang8Yuan‐Xin Yang9Hao‐Ran Geng10Ze‐Yu Zhou11An‐Na Shen12Xiang‐Yu Zhou13Yan Shi14Rui Zhao15Kun Sun16Chen Ding17Jian‐Yuan Zhao18Institute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineNational Health Commission (NHC) Key Laboratory of Neonatal Diseases, School of Life Sciences, Obstetrics and Gynecology Hospital of Fudan University, Children's Hospital of Fudan University, Fudan UniversityNational Health Commission (NHC) Key Laboratory of Neonatal Diseases, School of Life Sciences, Obstetrics and Gynecology Hospital of Fudan University, Children's Hospital of Fudan University, Fudan UniversityInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInternational Peace Maternity and Child Health Hospital of China Welfare Institute, Shanghai Jiao Tong University School of MedicineState Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Institutes of Biomedical Sciences, Human Phenome Institute, Zhongshan Hospital, Fudan UniversityInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineNational Health Commission (NHC) Key Laboratory of Neonatal Diseases, School of Life Sciences, Obstetrics and Gynecology Hospital of Fudan University, Children's Hospital of Fudan University, Fudan UniversityInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineState Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Institutes of Biomedical Sciences, Human Phenome Institute, Zhongshan Hospital, Fudan UniversityInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineAbstract Prenatal diagnosis of congenital heart disease (CHD) relies primarily on fetal echocardiography conducted at mid‐gestational age—the sensitivity of which varies among centers and practitioners. An objective method for early diagnosis is needed. Here, we conducted a case–control study recruiting 103 pregnant women with healthy offspring and 104 cases with CHD offspring, including VSD (42/104), ASD (20/104), and other CHD phenotypes. Plasma was collected during the first trimester and proteomic analysis was performed. Principal component analysis revealed considerable differences between the controls and the CHDs. Among the significantly altered proteins, 25 upregulated proteins in CHDs were enriched in amino acid metabolism, extracellular matrix receptor, and actin skeleton regulation, whereas 49 downregulated proteins were enriched in carbohydrate metabolism, cardiac muscle contraction, and cardiomyopathy. The machine learning model reached an area under the curve of 0.964 and was highly accurate in recognizing CHDs. This study provides a highly valuable proteomics resource to better recognize the cause of CHD and has developed a reliable objective method for the early recognition of CHD, facilitating early intervention and better prognosis.https://doi.org/10.15252/emmm.202317745congenital heart diseaseplasmaproteomics gestational
spellingShingle Ya‐Nan Yin
Li Cao
Jie Wang
Yu‐Ling Chen
Hai‐Ou Yang
Su‐Bei Tan
Ke Cai
Zhe‐Qi Chen
Jie Xiang
Yuan‐Xin Yang
Hao‐Ran Geng
Ze‐Yu Zhou
An‐Na Shen
Xiang‐Yu Zhou
Yan Shi
Rui Zhao
Kun Sun
Chen Ding
Jian‐Yuan Zhao
Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease
EMBO Molecular Medicine
congenital heart disease
plasma
proteomics gestational
title Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease
title_full Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease
title_fullStr Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease
title_full_unstemmed Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease
title_short Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease
title_sort proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease
topic congenital heart disease
plasma
proteomics gestational
url https://doi.org/10.15252/emmm.202317745
work_keys_str_mv AT yananyin proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT licao proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT jiewang proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT yulingchen proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT haiouyang proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT subeitan proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT kecai proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT zheqichen proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT jiexiang proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT yuanxinyang proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT haorangeng proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT zeyuzhou proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT annashen proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT xiangyuzhou proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT yanshi proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT ruizhao proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT kunsun proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT chending proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease
AT jianyuanzhao proteomeprofilingofearlygestationalplasmarevealsnovelbiomarkersofcongenitalheartdisease