Case Reports in Genetics (Jan 2014)

Intrauterine Growth Retardation Fetus with Trisomy 16 Mosaicism

  • Takol Chareonsirisuthigul,
  • Suchin Worawichawong,
  • Rachanee Parinayok,
  • Patama Promsonthi,
  • Budsaba Rerkamnuaychoke

DOI
https://doi.org/10.1155/2014/739513
Journal volume & issue
Vol. 2014

Abstract

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Fetal trisomy 16 is considered uniformly lethal early in gestation. It has been reported to be associated with the variability of clinical features and outcomes. Mosaic trisomy 16 leads to a high risk of abnormality in prenatal cases. Intrauterine growth retardation (IUGR) is a common outcome of mosaic trisomy 16. Herein, we report on the case of Thai male IUGR fetus with trisomy 16 mosaicism. The fetal body was too small. Postmortem investigation of placenta revealed the abnormality including small placenta with furcated cord insertion and single umbilical cord artery. Cytogenetic study demonstrated trisomy 16 that was found 100% in placenta and only 16% in the fetal heart while other organs had normal karyotype. In addition, cardiac and other internal organs examination revealed normal morphology.