Link: https://pubmed.ncbi.nlm.nih.gov/32080334/

J Perinatol
. 2020 Jun;40(6):952-961. doi: 10.1038/s41372-020-0623-3. Epub 2020 Feb 20.
An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling
Fiammetta Piersigilli 1 2, Mansoor Syed 1 3, TuKiet T Lam 4 5, Andrea Dotta 2, Michela Massoud 2, Pamela Vernocchi 6, Andrea Quagliariello 6, Lorenza Putignani 6 7, Cinzia Auriti 2, Guglielmo Salvatori 2, Pietro Bagolan 2, Vineet Bhandari 8 9 10
Affiliations expand
PMID: 32080334 DOI: 10.1038/s41372-020-0623-3
Abstract
Introduction: The omic approach can help identify a signature that can be potentially used as biomarkers in babies with congenital diaphragmatic hernia (CDH).

Objectives: To find a specific microRNA (miR) and metabolic fingerprint of the tracheal aspirates (TA) of CDH patients. We conducted a genetic analysis from blood samples.

Methods: TA samples collected in the first 48 h of life in patients with CDH, compared with age-matched controls. Metabolomics done by a mass spectroscopy-based assay. Genomics done using chromosomal microarray analysis.

Results: CDH (n = 17) and 16 control neonates enrolled. miR-16, miR-17, miR-18, miR-19b, and miR-20a had an increased expression, while miR-19a had a twofold decreased expression in CDH patients, compared with age-matched control patients. Specific metabolites separated neonates with CDH from controls. A genetic mutation found in a small subset of patients.

Conclusions: Specific patterns of metabolites and miR expression can be discerned in TA samples in infants with CDH.