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CYTOGENETIC STUDY, TISSUE, POC

Test Code: CG TISS POC
General Information: Solid tissue specimens can be cultured as a source for mitotic cells for chromosomal analysis. Products of conception (POC) specimens from the first trimester spontaneous abortions are often studied. Around half of POC specimens are chromosomally abnormal. These abnormalities are typically aneuploidies. Fetal tissues can also be studied on later gestation intrauterine fetal demises or stillborns or as confirmation at termination because of abnormal prenatal results. Tissues should be of fetal, not maternal, origin (e.g. fetal tissue, membranes, chorionic villi). Internal organs/diaphragm obtained at autopsy can be used. Skin punch biopsies may also be obtained to rule out chromosomal mosaicism or to culture for biochemical and/or molecular analysis.
Indications:
  • Two or more first trimester spontaneous miscarriages
  • Intrauterine fetal demise or stillbirth
  • Congenital anomalies in the fetus
  • Abnormal amniocentesis or CVS results
  • Suspected mosaicism
  • Suspected inborn error of metabolism or other genetic disorder for which there is testing

 
 


 
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