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Monday, July 9 • 11:00 - 12:00
Oral Poster Presentations: Genetics

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11:00-11:03 P1-1 Chromosomal abnormalities in fetuses with brain anomalies on antenatal ultrasound scanning, Sunayna Best, Yorkshire Regional Genetics Service

11:05-11:08 P2-37 Non-invasive prenatal diagnosis (NIPD) of X-linked and autosomal recessive single gene disorders by relative haplotype dosage (RHDO): a review of 18 months of clinical service, Elizabeth Young, West Midlands Regional Genetics Service

11:10-11:13 P1-3 Chromosomal microarray analysis on direct CVS can be complicated by confined placental mosaicism for aneuploidy and microdeletions, Amy Breman, Baylor College of Medicine

11:15-11:18 P1-32 Peptidomic Analysis of Fetal Heart Tissue for Identification of Endogenous Peptides Involved in Tetralogy of Fallot, Jingjing Zhang,  Nanjing Maternity and Child Health Care Hospital

11:20-11:23 P2-75 The utility of WES results in accelerating prenatal diagnosis in subsequent at-risk pregnancies, Lauren Westerfield, Baylor College of Medicine/Texas Children's Hospital

11:25-11:28 P2-10 32 Detection of fetal exosome DNA by massively parallel sequencing in the plasma of pregnant women, Ya Gao, BGI Research

11:30-11:33 P1-128 Improved detection of sex chromosomal aneuploidies in sequencing-based NIPT, Katrien Janssens, Universiteit Antwerpen

11:35-11:38 P1-82 Preparing to evaluate pre- and postnatal mesenchymal stem cell therapy to improve prognosis in osteogenesis imperfecta – the Boost Brittle Bones Before Birth study (BOOSTB4), Melissa Hill, Great Ormond Street Hospital NHS Foundation Trust & UCL Great Ormond Street Institute for Child Health

11:40-11:43 P2-8 Non-invasive prenatal diagnosis for monogenic disorders: Benefits, challenges and guidance needed, Lyn Chitty, Great Ormond Street Hospital for Children NHS Foundation Trust

11:45-11:48 P2-62 Fetal akinesia: Harnessing the power of next generation sequencing, Mireille Cloutier, Children's Hospital of Eastern Ontario

11:50-11:53 P2-68 Exome study in fetuses with severe anomalies: Dual role as a discovery and diagnostic tool, Isabel Filges, University Hospital Basel

11:55-11:58 P2-69 Pathogenic Variants in E3 ubiquitin Ligase RLIM/RNF12 cause a variable X-Linked Congenital Malformation Syndrome with Intellectual Disability, Suzanna Frints, Maastricht University Medical Center

avatar for Katelijne Bouman

Katelijne Bouman

Clinical Geneticist, University Medical Centre Groningen
avatar for Francesca Romana Grati

Francesca Romana Grati

Research & Development Manager, TOMA Advanced Biomedical Assays SpA

Monday July 9, 2018 11:00 - 12:00 CEST
Queen Elisabeth Hall