RT Book, Section
A1 Wilnai, Yael
A1 Manning, Melanie
A2 Stevenson, David K.
A2 Cohen, Ronald S.
A2 Sunshine, Philip
SR Print(0)
ID 1109799398
T1 Common Chromosomal Trisomies 21, 18, and 13
T2 Neonatology: Clinical Practice and Procedures
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071763769
LK accesspediatrics.mhmedical.com/content.aspx?aid=1109799398
RD 2024/04/16
AB Chromosome  abnormalities  account  for  a  significant  portion  of  genetic  disease  and  are  important  causes  of  congenital  malformations  and  pregnancy  loss.  Cytogenetic  disorders  are  found  in  nearly  1%  of  live  births;  thus,  performing  a  karyotype  on  a  newborn  with  multiple  congenital  anomalies  can  provide  valuable  information  with  respect  to  management  questions  and  prognosis  counseling.  Chromosome  analysis  is  indicated  as  a  diagnostic  procedure  in  a  number  of  different  general  clinical  situations,  such  as  problems  with  early  growth,  development,  stillbirth,  and  neonatal  death.  For  infants  in  the  neonatal  period,  performing  a  chromosome  analysis  may  be  considered  if  any  of  the  following  features  are  demonstrated: