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

Furtado, Larissa V.; Jama, Mohamed; Paxton, Christian N.; Wilson, Andrew; Gardiner, Anna; Lyon, Elaine; Geiersbach, Katherine B.

doi:10.3109/15513815.2012.681428

Cited by 3 publications

(1 citation statement)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For biparental HMs, characterized by recurrence, familial clustering, and the absence of normal pregnancy outcomes in most cases, one limited alternative strategy is in vitro fertilization with donor oocytes 10 . In fact, a refined genetic diagnosis also provides an explanation for miscarriage and helps alleviate patients’ psychological distress 11 , 12 . However, diagnosis based solely on morphology is affected by interobserver variability because of the overlapping histology 13 , and the misdiagnosis rates of HMs can be up to ~30% to 70% 14 .…”

mentioning

confidence: 99%

Hematoxylin and Eosin Staining Helps Reduce Maternal Contamination in Short Tandem Repeat Genotyping for Hydatidiform Mole Diagnosis

Zhao,

Cai,

Zhang

et al. 2023

International Journal of Gynecological Pathology

View full text Add to dashboard Cite

Short tandem repeat (STR) genotyping provides parental origin information about aneuploidy pregnancy loss and has become the current gold standard for hydatidiform moles diagnosis. STR genotyping diagnostic support most commonly relies on formalin-fixed paraffin-embedded samples, but maternal contamination is one of the most common issues based on traditional unstained sections. To evaluate the influence of hematoxylin and eosin (H&E) staining on DNA quality and STR genotyping, DNA was isolated from unstained, deparaffinized hydrated, and H&E-stained tissue sections (i.e. 3 groups) from each of 6 formalin-fixed paraffin-embedded placentas. The macrodissected view field, DNA quality, and polymerase chain reaction amplification efficiency were compared among groups. STR genotyping analysis was performed in both the testing cohort (n = 6) and the validation cohort (n = 149). H&E staining not only did not interfere with molecular DNA testing of formalin-fixed paraffin-embedded tissue but also had a clearer macrodissected field of vision. In the testing cohort, H&E-stained sections were the only group that did not exhibit maternal miscellaneous peaks in STR genotyping results. In the validation cohort, 138 (92.62%) cases yielded satisfactory amplification results without maternal contamination. Thus, H&E staining helped to reduce maternal contamination in STR genotyping for hydatidiform mole diagnosis, suggesting that H&E-stained sections can be incorporated into the hydatidiform mole molecular diagnostic workflow.

show abstract

mentioning

confidence: 99%