Author:

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Obstetrics & Gynecology, COMPARATIVE GENOMIC HYBRIDIZATION, CAUSES SPONDYLOCOSTAL DYSOSTOSIS, CORONARY VESSEL DEVELOPMENT, ACTIVATED RECEPTOR-GAMMA, COPY NUMBER VARIANTS, CRANIOFRONTONASAL SYNDROME, COUP-TFII, CHROMOSOME 15Q26, TRANSCRIPTION FACTOR, SUSCEPTIBILITY LOCI, Chromosome Aberrations, Comparative Genomic Hybridization, DNA Copy Number Variations, Female, Fetus, Gene Dosage, Genes, Developmental, Genetic Association Studies, Hernia, Diaphragmatic, Hernias, Diaphragmatic, Congenital, Humans, Karyotyping, Oligonucleotide Array Sequence Analysis, Pregnancy, Pregnancy Outcome, Prenatal Diagnosis, Severity of Illness Index, 1103 Clinical Sciences, 1114 Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine, 3202 Clinical sciences, 3215 Reproductive medicine

Abstract:

Congenital Diaphragmatic Hernia (CDH) is a foetal abnormality affecting diaphragm and lung development with a high mortality rate despite advances in foetal and neonatal therapy. CDH may occur either as an isolated defect or in syndromic form for which the prognosis is worse. Although conventional karyotyping and more recently chromosomal microarrays support a substantial role for genetic factors, causal genes responsible for isolated CDH remain elusive. We propose that chromosomal microarray analysis will identify CNVs associated with isolated CDH.