Posters and presentations

Following is a list of available posters presented by Integrated Genetics and/or Sequenom. We’ve listed them chronologically, according to the show where they premiered.

If you would like to be updated with new posters and other clinical content, simply email us at IGMktgSupport@integratedgenetics.com and we’ll add you to our list.

• Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory

• Deletion 2q22.1q22.3: An Emerging Microdeletion Syndrome with Variable Phenotype
• Family History of Autism Spectrum Disorder in the Preconception/Prenatal Genetic Counseling Session
• Predictive Hereditary Cancer Panel Testing in Minors: The Experience of Laboratory Genetic Counselors
• Counseling Complexities of Expanded Carrier Screening: an ATM Case Report
• Evaluating Trends in Re-classification of Variants in a Clinical Diagnostic Laboratory
• Thrombocytopenia-Absent Radius Syndrome 1q21.1 Deletions in the Prenatal and Postnatal Setting: Analysis of Inheritance and Ascertainment in a Large Cohort
• Recommendations Versus Practice Patterns: the Uptake of Chromosomal Microarray Testing in Prenatal Patients with Fetal Structural Ultrasound Abnormalities
• Microarray Detection of Mosaicism in Prenatal and POC Specimens: More Complexity with Better Technology
• Mosaicism Ratio in cfDNA Prenatal Screening: an Invaluable Tool for Clinical Management Guidance
• Prenatal and Postnatal 10q24.32 Duplications Detected by SNP Microarray
• Convergence of Reproductive and Cancer Genetic Counseling: a Case Report
• Pathogenic? Expanding the Spectrum of DMD Variants
• Diagnosing Angelman and Prader-Willi Syndromes Prenatally: DNA Methylation Outcomes Following Varied Initial Indications
• MaterniT® 21 PLUS Performance in Lower Fetal Fraction Samples

• Confirmed maternal neoplasms detected via informaSeq® non-invasive prenatal screening
• Clinical outcomes of genome-wide cell-free DNA (cfDNA) for cases screening positive for trisomy 9
• Mosaic trisomy 2 identified via whole-genome cfDNA screening
• Confirmed maternal neoplasms detected via informaSeq® non-invasive prenatal screening

• Cell free DNA screening at 9 weeks: A clinical laboratory experience
• Complex chromosomal rearrangements revealed through Genome-wide cfDNA: 40,000 samples
• Exploring Positive Diagnostic Results after Receiving "Aneuploidy Suspected" Screen Results via Non-Invasive Prenatal Screening
• Genetic counseling for carrier screening and prenatal diagnosis involving a Tay-Sachs disease variant of uncertain significance and possible pseudodeficiency allele in the East Asian population
• Genome wide cfDNA testing: Clinical laboratory experience screening for select microdeletions
• Going against the guidelines: patient decisions following preimplantation genetic testing
• Prenatal Detection of a Cryptic Derivative Chromosome: Association of Ultrasound Findings with an Imprinted Region
• Prenatal Microarray Detection of VCF/DiGeorge syndrome: Impact of Ascertainment and the Importance of the Detection of a Second Microarray Abnormality
• Pregnancy Outcome Information after Receiving an "Aneuploidy Suspected" Screen Result via Non-Invasive Prenatal Screeening
• Third trimester cell free DNA screening: A clinical laboratory experience
• Whose Y is it anyway? Transplants and NIPT II

• Clinical outcomes of genome-wide cfDNA for cases screening positive for trisomies 3, 7, 15, 16, and 22

• Genome-wide cfDNA screening-Trends and lessons from 40,000 samples

• Over a half million noninvasive prenatal tests-a clinical laboratory experience

• Prenatal Carrier Screening Acceptance Rates in Adopted Individuals

• Segmental UPD to the Rescue-A biological mechanism underlying discordant NIPT results

• Shifting Paradigms-Twin Gestations in the Age of Cell-Free DNA

• The Revelation of Complex Chromosomal Rearrangements through Genome-Wide cf_DNA Screening

• BRCA1/2 genetic testing ordering practices: A snapshot from a large commercial laboratory

• Esoteric aneuploidies and genome-wide cell-free DNA.pdf​​

• Evolving trend in patient decision-making on non-invasive screening versus invasive testing following a prenatal diagnosis of ultrasound anomaly.pdf​

• Full gene sequencing as a follow up to carrier screening - utilization and outcomes.pdf

• Genome wide cfDNA testing - Clinical laboratory experience screening for sex chromosome abnormalities.pdf​

• Maternal serum screen positive results – What do patients elect next.pdf​

• Prenatal diagnosis of a 21q microduplication after positive NIPT result for trisomy 21.pdf​

• The complex side of NIPT fetal sex discrepancies revealed_Karyotype party tricks.pdf​

• The impact of a quality improvement program on genetic counseling.pdf​

• The many faces of monosomy X - Unexpected outcomes of monosomy X NIPT results.pdf

• Atypical Allele Dosage Patterns and Mechanisms in the Dx of While and Seg UPD
• Cell Free DNA Detection of Microdeletions
• Comparative Assessment of Pre and Postnatal Molecular Testing for Noonan and Related
• Integration of PHEVOR algorithm module to aid candidate gene id in clin WES analysis
• Mosaicism Ratio in cfDNA Testing- A Potential Tool to Identify Discordant Results
• NIPT Detection of Pallister-Killian Mosaic Syndrome
• Placenta Whispers II... Tales of CPM and Clinical Impact
• Prospective evaluation of a 27 gene inherited cancer panel across 631 consecutive patients...
• Sample Specific Fetal Fraction Threshold for Non-Invasive Prenatal Testing
• The Wolf-Hirschhorn Critical Region… Not So Critical
• Uncovering the Complexities of the Placenta - Trophoblast Mosaicism

• Expanding NIPT to Average Risk-MaterniT 21 PLUS Performance in the Average Risk vs. High Risk Population
• Optimized Detection of 22q11.2 Deletions Using Whole Genome Sequencing

• Genome Wide Non-Invasive Prenatal Testing: 2,000 Samples Outcome Experience
• Genome-wide cfDNA testing: Clinical laboratory experience screening for sex chromosome abnormalities
• Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent
• Positive NIPT: An indicator for complex genetic findings
• Beyond the basics: A case series from genome-wide non-invasive prenatal testing (NIPT)

• Detection of structural abnormalities of the Y chromosome by noninvasive prenatal testing
• Low molecular weight heparin and noninvasive prenatal testing
• Evidence of aneuploidy rescue as revealed by circulating cell free DNA screening
• Twins and Triplets and Quads, Oh My! A review of MaterniT21 PLUS assay results in multifetal pregnancies
• Maternal weight – impact on noninvasive prenatal testing (NIPT)
• Discordant noninvasive prenatal testing (NIPT) results and placental health: A blessing in disguise
• Success of NIPT based on Maternal Weight and Gestational Age
• Whose Y is it anyway? Transplantation as a biological cause of noninvasive prenatal testing (NIPT) gender discrepancies
• Clinical Performance of informaSeq Non-Invasive Prenatal Screening