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The Genetics of Neonatal Surgical Conditions

  • Ian Ellis
Chapter

Abstract

It is noteworthy that in 1953, the same year that Peter Paul Rickham was establishing the first neonatal surgical unit at Alder Hey Children’s Hospital in Liverpool, just 200 miles away in Cambridge, Francis Crick and James Watson were unraveling the structure of DNA, the fundamental genetic material. Crick and Watson’s Nobel Prize winning work describing the double helix structure of DNA also described a mechanism for its replication. The two parent DNA strands each acting as the framework for copying into the two daughter strands. The usual accuracy of the copying of billions of base-pairs into gametes at meiosis and daughter cells during mitosis is itself a marvel. Changes in the usually faithful copying of DNA strands (mutations) can be the basis of positive genetic change that encourages our evolution over generations. Or the sudden deleterious change in a DNA sequence may be the pathogenic mutation that underlies a congenital malformation that presents to a neonatal surgeon. Here lies the origin of many neonatal surgical conditions and ultimately important clues to their improved management and ultimately their reduction or even prevention.

Keywords

Human Genome Project (HGP) Gene Mutation Birth defect Malformation Clinical genetics Syndrome diagnosis Dysmorphology Mendelian Multifactorial Polygenic inheritance Recurrence risk Chromosome Fluorescent in situ hybridisation (FISH) Micro-array analysis DNA transcription factor Embryogenesis Hox SOX PAX genes Genotype Phenotype Gene expression Incomplete penetrance Variable expression Heritability Hirschprung disease (HSCR) Genome wide association study (GWAS) Single nucleotide polymorphism (SNP) Copy number variant (CNV) Unclassified variant (UCV) Epigenetic imprinting Anti-sense oligonucleotide RNA interference Gene silencing Next generation sequencing (NGS) Exome sequencing Whole genome sequencing (WGS) DECIPHER database Genetic counselling Family tree Pedigree Prenatal diagnosis Fetal ultrasound Chorionic villus sampling (CVS) Amniocentesis Cell free fetal DNA (cffDNA) Non-invasive prenatal diagnosis (NIPD) Pre-implantation genetic diagnosis (PGD) Termination of pregnancy Non-directive Non-judgmental counselling Support 

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Copyright information

© Springer-Verlag London Ltd., part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Clinical GeneticsLiverpool Women’s HospitalLiverpoolUK

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