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Pre-implantation genetic diagnosis of neurofibromatosis
Bonalumi Filho A.; Darrigo L.G.; Oliveira L.; Azulay D.R.; Cunha K.S.G.; Geller M. (2012)
Pre-implantation genetic diagnosis (PGD) is defined as the genetic study of embryos obtained from in vitro fertilization during the first days of development, and is considered an early form of pre-natal diagnosis (PND). All forms of Neurofibromatosis (NF) present an autosomal dominant inheritance pattern, meaning that the affected parent has a chance of 50% to transfer NF to his or her child. Approximately 10 years ago, PGD technique began to be employed in patients with NF, as these disorders present a significant potential for morbidity. Although there remain few publications referencing this technique in patients with NF, PGD has proved to be a useful and promising technique, and it is, currently, the only method that prevents parents from transmitting NF to their child. © 2012 by Nova Science Publishers, Inc. All rights reserved.