Aneuploidy Detection in Paraffin Embedded Tissue from Products of Conception by Mini-STR Genotyping

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.

Keywords :

• mini-STR genotyping
• aneuploidy
• products of conception
• FFPE
• paraffin embedded tissue
• autopsy

SUPPLEMENTARY TABLE 1  Molecular Genotyping Results on Study Cases