chromosomal abnormalities Team Presents Optical Genome Mapping Method for Finding Chromosomal Alterations In a pair of new studies, investigators retrospectively identified known chromosomal alterations in samples from individuals with hematological malignancies and other conditions. Arcedi Biotech Introduces NIPT Analyzing DNA From Rare Fetal Cells in Maternal Blood Premium The company is positioning the blood-based test as an alternative to invasive chorionic villus sampling, the current standard in Denmark. CRISPR-Cas9 Genome Editing Can Lead to Extensive Chromosome Rearrangements A study showed that chromothripsis, a mutational process that can lead to congenital disease and cancer, can result from on-target editing with Cas9. Prenatal Diagnosis Society Recommends cfDNA Screening for Autosomal Trisomies in Twin Pregnancies The literature shows high specificity and sensitivity for cfDNA testing in twin pregnancies. It could also be a viable screening option for triplet pregnancies. ACOG Guidelines Recommend NIPT for All Pregnancies Regardless of Risk The organization had previously only recommended the use of noninvasive prenatal testing in individuals 35 and older or with other known risk factors. Aug 17, 2020 Bionano Genomics Expecting Clinical Validation Studies to Drive Platform Adoption Premium Nov 8, 2019 Some Call for Expanded Payor Coverage of NIPS but Reluctance Remains Premium Aug 9, 2019 Illumina Begins Upgrading NIPT Customers to New Version of Test With Genome-Wide Options Premium Mar 29, 2019 Prenatal Testing Decision Making Tied to Women's Aversion to Risk, Ambiguity Nov 13, 2018 Angle to Enter NIPT Market With Rare Cell Isolation Platform Premium Apr 5, 2018 Singlera to Use $60M Funding to Support Launch of IVDs, Research Into Very Early Detection of Cancer Premium Mar 2, 2018 Mosaic Maternal Fragile Site Expansion Adds to List of Variants Causing False-Positive NIPT Results Oct 11, 2017 Natera Validates Panorama NIPT for Twin Pregnancies; Includes Zygosity, Fetal Sex Determination Premium Dec 21, 2016 Size-Based NIPT Approach Helps Clarify Origin of Subchromosomal Abnormalities Premium Nov 22, 2016 NIH Awards Albert Einstein Scientist $7.5M to Study Genetics of Congenital Heart Abnormalities Nov 2, 2016 Fetal Cell-Based Noninvasive Prenatal Testing Advances With Three New Feasibility Studies Premium Jun 14, 2016 CombiMatrix Believes NGS Preimplantation Genetic Screening Test Will Attract New Customers Premium Feb 26, 2016 Sequenom Publishes Clinical Validation of MaterniT Genome Test Jan 28, 2016 Study Supports Use of Sequencing in Clinical Cytogenetics, Pathogenic CNV Detection Jan 15, 2016 UK National Screening Committee Recommends NIPT Evaluation as Part of Existing Program Dec 18, 2015 India's MedGenome Begins Offering Natera's Panorama NIPT Dec 17, 2015 Researchers Say NIPT Has Limited Clinical Utility for Subchromosomal Abnormalities Nov 10, 2015 NIPT for Sub-Chromosomal Abnormalities Dependent on Fetal DNA Fraction, Sequencing Depth Premium Oct 22, 2015 Multiplicom Gets CE-IVD Mark for Clarigo NIPT Aug 18, 2015 CombiMatrix Lands NY State Approval for Prenatal Dx Array Load More Breaking News In Brief This Week: Illumina, Personalis, Proteomedix, and More Ancient DNA Details Population Dynamics Within Andean Tiwanaku Civilization Genomic Data Spanning 2K Years Gives Glimpse of Etruscan Origins, Population Changes People in the News: New Appointments at Hologic, Akoya Biosciences, Caris Life Sciences, More At NSGC, Genetic Counselors Address Race-Based Medicine, Ways to Change New Products Posted to GenomeWeb: Becton Dickinson, Cosmos-ID, OncoDNA, More The Scan US Booster Eligibility Decision The US CDC director recommends that people at high risk of developing COVID-19 due to their jobs also be eligible for COVID-19 boosters, in addition to those 65 years old and older or with underlying medical conditions. Arizona Bill Before Judge The Arizona Daily Star reports that a judge weighing whether a new Arizona law restricting abortion due to genetic conditions is a ban or a restriction. Additional Genes Wales is rolling out new genetic testing service for cancer patients, according to BBC News. Science Papers Examine State of Human Genomic Research, Single-Cell Protein Quantification In Science this week: a number of editorials and policy reports discuss advances in human genomic research, and more.