Evidence map›Paper›PMID 35456449›Full record

ArticleGenes2022

Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception.

Nikhil Shri Sahajpal, Ashis K Mondal, Sudha Ananth, Chetan Pundkar, Kimya Jones, Colin Williams, Timothy Fee, Amanda Weissman, Giuseppe Tripodi, Eesha Oza and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Nikhil Shri SahajpalDepartment of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Ashis K MondalDepartment of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.ORCID 0000-0003-3826-9489
Sudha AnanthDepartment of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Chetan PundkarDepartment of Pathobiology, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA.
Kimya JonesDepartment of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Colin WilliamsDepartment of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Timothy FeeCytogenetics Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.
Amanda WeissmanMedical College of Georgia, Augusta University, Augusta, GA 30912, USA.ORCID 0000-0002-5873-1995
Giuseppe TripodiMedical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Eesha OzaDepartment of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Larisa Gavrilova-JordanDepartment of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Nivin OmarDepartment of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Alex R HastieBionano Genomics Inc., San Diego, CA 92121, USA.
Barbara R DuPontCytogenetics Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.
Lawrence LaymanDepartment of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Alka ChaubeyBionano Genomics Inc., San Diego, CA 92121, USA.ORCID 0000-0002-0914-9237
Ravindra KolheDepartment of Pathology, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.ORCID 0000-0002-8283-2403

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

FertilizationPolymorphism, Single NucleotideChromosome MappingCytogenetic AnalysisMicroarray Analysismicroarrayoptical genome mappingproducts of conception

Identifiers

PMID35456449
PMCPMC9026980

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.