Genetics in Medicine | Article
Focus on Obstetrics and Gynecology
The tools provided by massively parallel sequencing (also known as next generation sequencing) have been rapidly adopted by the OB/GYN community. Indeed, obstetrics has been at the forefront of clinical use of these technologies, rapidly supplanting existing, routine techniques for non-invasive screening for aneuploidy. The future is equally as exciting, with genomic analysis of many more prenatal conditions on the horizon. Genetics in Medicine has been – and will continue to be – at the forefront of publishing advances in this area, for example, publishing two of the seminal works in this area: “DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study” in 2011 (cited nearly 400 times) and “DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study” in 2012 (cited over 250 times). Genetics in Medicine is an invaluable tool to anyone practicing in the OB/GYN realm or engaged in related research.