This program is subject to change. Speakers are added as confirmations are received. Please note that preconference courses require separate registration. Downloads: Oral AbstractsPoster Abstracts
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
