RT Book, Section
A1 Almannai, Mohammed
A1 Lalani, Seema R.
A2 Kline, Mark W.
SR Print(0)
ID 1182930731
T1 Approach to a Newborn with Birth Defects
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182930731
RD 2024/04/20
AB Congenital  anomalies  occur  frequently  and  are  estimated  to  be  present  in  about  13%  of  all  admissions  to  neonatal  intensive  care  units  in  the  developed  countries.  Data  from  large  studies  indicate  that  the  burden  of  genetic  diseases  in  neonates  with  congenital  anomalies  in  intensive  care  settings  is  approximately  5%  to  7%.  Congenital  anomalies  are  a  leading  cause  of  infant  mortality  in  the  United  States,  accounting  for  about  20%  of  all  infant  deaths.  There  are  over  4500  Mendelian  disorders  that  have  a  known  genetic  etiology  at  present,  and  a  significant  fraction  of  these  present  in  the  neonatal  period.  With  the  rapid  advancement  in  diagnostic  technologies  and  our  increasing  ability  to  decipher  the  genetic  basis  of  birth  defects,  a  substantial  influence  of  genetic  perturbation  is  recognized  in  infants  with  birth  defects.  Recognition  of  chromosomal  syndromes,  genomic  disorders,  and  single-gene  Mendelian  diseases,  as  well  as  imprinting  diseases  presenting  in  the  newborns,  is  paramount  in  this  age  of  rapidly  advancing  diagnostic  and  treatment  alternatives.  While  trisomy  21  (Down  syndrome)  remains  the  most  common  genetic  condition  associated  with  birth  defects,  with  an  estimated  incidence  of  1  in  700  live  births,  other  genetic  disorders  play  a  correspondingly  significant  role  and  should  be  recognized  by  astute  clinicians.  Teratogens,  such  as  warfarin,  alcohol,  maternal  phenylketonuria,  retinoic  acid,  and  Zika  virus  have  an  important  role  in  causing  birth  anomalies  and  should  be  distinguished  from  inherited  genetic  determinants.  Approaching  a  newborn  with  birth  defects  not  only  requires  a  comprehensive  evaluation  to  identify  the  underlying  cause,  but  also  involves  elucidating  the  genetic  variants  in  at-risk  families  to  prevent  recurrence  of  often  serious  and  life-threatening  congenital  anomalies.