An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling

Fiammetta Piersigilli, Mansoor Syed, Tu Kiet T. Lam, Andrea Dotta, Michela Massoud, Pamela Vernocchi, Andrea Quagliariello, Lorenza Putignani, Cinzia Auriti, Guglielmo Salvatori, Pietro Bagolan, Vineet Bhandari

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)952-961
Number of pages10
JournalJournal of Perinatology
Volume40
Issue number6
DOIs
Publication statusPublished - Jun 1 2020

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynaecology

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