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 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.

Unveiling the potential of SLURP1 protein as a biomarker for prostate cancer screening

“…The filtered data underwent imputation of missing values using the perseuse algorithm. Differentially expressed proteins were identified based on meeting the criteria of an average ratio-fold change > 1.5 and a p-value < 0.05 ( 16 – 18 ).…”

Looking at a baby's heart through the lens of the mother's blood

“…In this issue of EMBO Molecular Medicine , Yin et al (2023) report the results of a case–control study on 206 pregnant women recruited from the International Peace Maternity and Child Health Hospital of the China Welfare Institute. The cohort comprised 103 controls and 104 cases, with the most frequent phenotypes being VSD (42/104) and atrial septal defect (ASD) (20/104).…”

“…There are several elements of originality in the study from Yin et al (2023). Apart from confirming plasma proteins already known for being associated with CHD, the authors identified other significantly changed proteins, such as deoxynucleoside triphosphate triphosphohydrolase 1 (SAMHD1) and secreted protein acidic and rich in cysteine (SPARC).…”

Plasma Proteomics Analysis of Early Biomarkers for Predicting Female Fecundability: A Nested Case-Control Study

“…For example, Qu et al 8 constructed a predictive model to differentiate patients with muscle-invasive and nonmuscleinvasive upper tract urothelial carcinoma. Yin et al 9 predicted the possibility of fetal congenital heart disease. Jacobo-Baca et al 10 confirmed proteomics-based differences between women with preeclampsia and normal pregnant women, and Wang et al 11 predicted the occurrence of preeclampsia.…”