Karine Hovanes

Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation

Afia Hasnain, Laura L. Thompson, Nicole L. Hoppman, Karine Hovanes et autres

Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a variety of congenital abnormalities and cancer. Constitutional chromothripsis is a rare occurrence, reported in children presenting with a wide range of birth …

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250 Preimplantation genetic testing (PGT) for non-homologous Robertsonian translocation carriers: a twelve-year laboratory experience

Katrina Merrion, Carrie Chou, Jeannie Klavanian, Emily Boniferro et autres

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P608: Optical genome mapping for genome-wide structural variation analysis in hematologic malignancies: Prospective study to determine impact on diagnosis and management

T. Sahoo, Stephen J. Wicks, Jen Hauenstein, Anusha Mylavarapu et autres

Structural variations (SV) play a key role in the pathogenesis of hematologic malignancies. Standard-of-care (SOC) cytogenomic methods, including chromosome karyotyping (KT) and fluorescence in situ hybridization (FISH), have inherent limitations, while next-generation sequencing (NGS) technologies have limited ability to detect most SVs. …

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Optical Genome Mapping for Genome-Wide Structural Variation Analysis in Hematologic Malignancies: A Prospective Study Demonstrates Additional Findings Compared to Standard-of-Care (SOC) Cytogenomic Methods

Stephen J. Wicks, Marissa Younan, T. Sahoo, Jen Hauenstein et autres

Genomic structural variants (SVs) are key in understanding the pathogenesis of hematologic malignancies. The current standard-of-care (SOC) cytogenomic methods, including chromosome karyotyping (KT) and fluorescence in situ hybridization (FISH), have inherent limitations in identifying SVs, while next-generation sequencing technologies have limited ability …

INVESTIGATING THE INCIDENCE OF THE 22q11.2 DELETION SYNDROME IN MISCARRIAGE

Melissa K. Maisenbacher, Katrina Merrion, Karine Hovanes, Jeffrey T. Meltzer et autres

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RESULTS OF CONCURRENT PREIMPLANTATION GENETIC TESTING FOR MONOGENIC CONDITIONS (PGT-M), STRUCTURAL REARRANGEMENTS (PGT-SR), AND ANEUPLOIDY (PGT-A); SETTING PATIENT EXPECTATIONS

Jessica Adsit, Nina Wemmer, Jeannie Klavanian, Katie M. Wiens et autres

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Undetected Maternal Cell Contamination in Products of Conception Analysis May Mask Recurrence Risks for Future Pregnancies: A Case Report and Discussion [ID: 1377203]

Katrina Merrion, Lindsey Campbell, Karine Hovanes, Russel D. Jelsema et autres

INTRODUCTION: Maternal cell contamination (MCC) in products of conception (POC) tissue is common; some studies report 59% of 46,XX results represent MCC. METHODS: Products of conception tissue and maternal blood samples were shipped to a laboratory for genotyping using Illumina CytoSNP-12b microarrays …

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P556: PGT-M for hereditary cancer conditions: A 12-year testing experience at a single reference laboratory

Jeannie Klavanian, Kenzie Wood, Maija Sands, Melda Balcioglu et autres

P527: Concordance analysis of monozygotic twin gestations with SNP technology identifies discrepant chromosome findings

Melissa K. Maisenbacher, Georgina Goldring, Katherine M. Howard, Russell Jelsema et autres

Methods: We performed a retrospective analysis on de-identified data from individuals who received a hereditary cancer test between October 2021 to October 2022 in a commercial lab.Variants that were predicted to impact splicing were further subjected to RNA-sequencing and data analysis.Intronic, missense, …

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P620: Fetal placental discordance as an explanation for false negative SNP-based NIPT*

Jennifer Lemoine, Cindy Trotter, Katrina Merrion, Melissa K. Maisenbacher et autres

Introduction: Single nucleotide polymorphism (SNP)-based non-invasive prenatal testing (NIPT) differentiates between cell-free DNA (cfDNA) of maternal and placental origin to provide low-risk or high-risk results for the common aneuploidies and select microdeletions.False negative (FN; low-risk test result, affected pregnancies) results occur in …

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P619: Rates of unbalanced chromosome rearrangements associated with pericentric and paracentric inversions: Analysis of molecular chromosome results in blastocyst-stage embryos samples*

Katrina Merrion, Jessica Adsit, Katherine M. Howard, Carrie Chou et autres

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RESCUED BY PARAFFIN: WHEN FRESH PRODUCTS OF CONCEPTION (POC) ANALYSIS DOES NOT PROVIDE A RESULT

Katherine L. Howard, Melissa K. Maisenbacher, Melda Balcioglu, Karine Hovanes et autres

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