title: 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.
authors.affiliation: Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA. larissa.furtado@hsc.utah.edu
authors.forename: Larissa V
authors.initials: LV
authors.lastname: Furtado
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Jama
authors.forename: Christian N
authors.initials: CN
authors.lastname: Paxton
authors.forename: Andrew A
authors.initials: AA
authors.lastname: Wilson
authors.forename: Anna E
authors.initials: AE
authors.lastname: Gardiner
authors.forename: Elaine
authors.initials: E
authors.lastname: Lyon
authors.forename: Katherine B
authors.initials: KB
authors.lastname: Geiersbach
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D000782:Aneuploidy; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D008297:Male; D042282:Microdissection; D018895:Microsatellite Repeats / Q000235:genetics*; D016612:Paraffin Embedding; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy