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Updated: May 22, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Aneuploidy detection in paraffin embedded tissue from products of conception by mini-STR genotyping
Larissa V Furtado1, Mohamed A Jama, Christian N Paxton
1Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA. larissa.furtado@hsc.utah.edu
Abstract:
Autosomal trisomy is the most common genetic abnormality observed in pregnancy loss. We designed a panel of mini-short tandem repeats (mini-STRs) for aneuploidy detection in chromosomes 13, 16, 18 and 21 from fresh and formalin fixed, paraffin embedded (FFPE) samples from products of conception (POC). FFPE POCs with trisomy 13 (n = 6), trisomy 18 (n = 6), trisomy 21 (n = 12), 6 euploid for the chromosomes of interest and two trisomy 16 samples from fresh tissue were tested. Concordance between cytogenetics and genotyping was 100% for non-mosaic samples. Mini-STR genotyping is a viable method for targeted aneuploidy detection in low quality DNA samples.
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