Aneuploidy detection in paraffin embedded tissue from products of conception by mini-STR genotyping

Fetal Pediatr Pathol. 2013 Apr;32(2):133-50. doi: 10.3109/15513815.2012.681428. Epub 2012 May 18.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Spontaneous / genetics
  • Aneuploidy*
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics*
  • Genotype
  • Genotyping Techniques / methods*
  • Humans
  • Male
  • Microdissection
  • Microsatellite Repeats / genetics*
  • Paraffin Embedding
  • Polymerase Chain Reaction / methods
  • Pregnancy