Aims: To explore the cost-effectiveness of alternative methods of screening family members for hypertrophic cardiomyopathy (HCM), the most common monogenic cardiac disorder and the most frequent cause of sudden cardiac death (SCD) in young people.
Methods and results: Economic decision model comparing cascade screening by genetic, as opposed to clinical methods. The incremental cost per life year saved was €14 397 for the cascade genetic ... [truncated at 450 characters in length]
|Author||Sarah Wordsworth; José Leal; Edward Blair; et al|
|Faculty||Medical Sciences Division - Public Health Medical Sciences Division - Public Health Department of Clinical Genetics Medical Sciences Division - Cardiovascular Medicine Health Services Research Unit Molecular Genetics Laboratory Molecular Genetics Laboratory Medical Sciences Division - Clinical Medicine,Nuffield Department of - Wellcome Trust Centre for Human Genetics Medical Sciences Division - Cardiovascular Medicine|
Purpose. Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3 to 3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in post-natally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. We recruited the largest sample including all three SCTs to be reported to date, including childre ... [truncated at 450 characters in length]
|Author||Dorothy V. M. Bishop; Patricia A. Jacobs; Katherine Lachlan; et al|
|Faculty||Medical Sciences Division - Experimental Psychology Wessex Regional Genetics Laboratory Wessex Clinical Genetics Service Division of Human Genetics Wessex Clinical Genetics Service Division of Human Genetics NE Thames Regional Genetics Service Medical Sciences Division - Public Health - National Perinatal Epidemiology Unit Department of Clinical Genetics Regional Genetics Service Department of Clinical Genetics Medical Sciences Division - Experimental Psychology Medical Sciences Division - Experimental Psychology Medical Sciences Division - Experimental Psychology|