Prenatal Diagnosis of Partial Trisomy 14 : A Case Report

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Saman Luengwattanawanit
Onanong Kitpetcharat
Thawalwong Ratanasiri
Piraiwon Klebkaew

Abstract

Background : Partial trisomy 14 is an excess long arm of chromosome 14. It is a rare chrmomosomal aberration but it is associated with several fetal abnormalities.  Moreover,  it  is frequently  noted  as  a  cause  of  havitual  abortion.  Prenatal  diagnosis  of  this  abnormality,  therefore,  is  necessary  for  proper  genetic  counseling  and  patient  management.

Objective :  To  report  a  case  with  partial  trisomy  14.

Results : We  reported  a  case,  37  years  old,  with  a  past  history  of  3  consecutive  abortions.  This  4th pregnant  was  prenatal  diagnosis  by   amniocentesis  at  19  weeks  of  gestation.  Giemsa  banding  and  husband  were  genetic  counseled   and  decide  to  terminate.  The  phenotypic  change of  fetus  at  autopsy  was  a  narrow  and  small  chin.  Other  organs  were  grossly  unremarkable.

Conclusion : Prenatal  detection  of  fetal  chromosomal  of  fetal  chromosome  abnormality  is  useful  for  obstetrician  and  gynecologist  to  genetic  counsel  and  manage  patient  appropriately.

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Case report