TY  - CHAP
M1  - Book, Section
TI  - Genetic and Genomic Testing in the Newborn Period
A1  - Gomella, Tricia Lacy
A1  - Eyal, Fabien G.
A1  - Bany-Mohammed, Fayez
Y1  - 2020
N1  - 
T2  - Gomella's Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs, 8e
AB  - Genetic  testing  is  not  a  new  concept  in  neonatology.  Newborn  metabolic  screening  is  the  largest  utilization  of  universal  genetic  testing  in  medicine  and  has  been  used  in  neonatology  since  1960.  It  was  then  that  Dr.  Robert  Guthrie  developed  a  blood  test  to  screen  infants  for  phenylketonuria.  It  is  estimated  that  birth  defects  are  detected  in  3%  to  6%  of  live  births  and  that  congenital  malformations,  deformations,  and  chromosomal  abnormalities  are  the  cause  of  approximately  20%  of  deaths  before  1  year  of  age.  Many  genetic  conditions  present  in  the  perinatal  period.  Understanding  of  the  available  technology  and  the  ability  to  manage  all  the  steps  involved  in  genomic  testing  have  become  essential  tools  for  nongenetic  specialists,  including  neonatologists  and  pediatricians.  The  study  of  genetics  and  genomics  overlaps  in  the  DNA  analysis  of  specific  genes,  with  the  majority  of  diseases  having  complex  genetic  signatures.  Genomics  is  a  relatively  new  field,  arising  with  the  completion  of  the  Human  Genome  Project  in  2003,  which  mapped  over  3  billion  nucleotides  in  the  23  human  chromosomes.  Genomic  technology  advances  have  had  a  major  impact  on  the  care  of  newborns,  especially  those  who  are  critically  ill.  Consequently,  genomic  testing  is  used  more  frequently,  and  as  a  result,  pediatric  providers  need  to  be  knowledgeable  about  the  wide  variety  of  tools  that  are  becoming  available.  Information  in  this  chapter  is  applicable  to  the  newborn  screening  and  congenital  abnormalities  discussed  in  Chapters  16  and  93.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1168356025
ER  -