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Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception.
Sahajpal, Nikhil Shri; Mondal, Ashis K; Ananth, Sudha; Pundkar, Chetan; Jones, Kimya; Williams, Colin; Fee, Timothy; Weissman, Amanda; Tripodi, Giuseppe; Oza, Eesha; Gavrilova-Jordan, Larisa; Omar, Nivin; Hastie, Alex R; DuPont, Barbara R; Layman, Lawrence; Chaubey, Alka; Kolhe, Ravindra.
Afiliación
  • Sahajpal NS; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Mondal AK; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Ananth S; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Pundkar C; Department of Pathobiology, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA.
  • Jones K; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Williams C; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Fee T; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Weissman A; Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Tripodi G; Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Oza E; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Gavrilova-Jordan L; Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Omar N; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Hastie AR; Bionano Genomics Inc., San Diego, CA 92121, USA.
  • DuPont BR; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Layman L; Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
  • Chaubey A; Bionano Genomics Inc., San Diego, CA 92121, USA.
  • Kolhe R; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Genes (Basel) ; 13(4)2022 04 03.
Article en En | MEDLINE | ID: mdl-35456449
Conventional cytogenetic analysis of products of conception (POC) is of limited utility because of failed cultures, as well as microbial and maternal cell contamination (MCC). Optical genome mapping (OGM) is an emerging technology that has the potential to replace conventional cytogenetic methods. The use of OGM precludes the requirement for culturing (and related microbial contamination). However, a high percentage of MCC impedes a definitive diagnosis, which can be addressed by an additional pre-analytical quality control step that includes histological assessment of H&E stained slides from formalin-fixed paraffin embedded (FFPE) tissue with macro-dissection for chorionic villi to enrich fetal tissue component for single nucleotide polymorphism microarray (SNPM) analysis. To improve the diagnostic yield, an integrated workflow was devised that included MCC characterization of POC tissue, followed by OGM for MCC-negative cases or SNPM with histological assessment for MCC-positive cases. A result was obtained in 93% (29/31) of cases with a diagnostic yield of 45.1% (14/31) with the proposed workflow, compared to 9.6% (3/31) and 6.4% (2/31) with routine workflow, respectively. The integrated workflow with these technologies demonstrates the clinical utility and higher diagnostic yield in evaluating POC specimens.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo de Nucleótido Simple / Fertilización Idioma: En Revista: Genes (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo de Nucleótido Simple / Fertilización Idioma: En Revista: Genes (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza