The preimplantation genetic diagnosis allows to identify genetic disease and chromosomal alterations in early stages of embryonic development, giving the opportunity to overcome the risk of transmitting an inherited disease and to improve the efficiency of in vitro fertilization techniques. In this paper, we provide an overview of indications and of the advantages and limits of techniques used to perform the preimplantation genetic diagnosis. We describe the multiplex-polymerase chain reaction (PCR) and the karyomapping for the genetic diagnosis of inherited disease as well as the comparative genomic hybridization array, the qualitative real-time PCR and the next generation sequencing for the screening of chromosomal aneuploidy.
Indicazioni e limiti della diagnosi genetica preimpianto / D’Argenio, Valeria; Nunziato, Marcella; D’Uonno, Nadja; Borrillo, Francesca; Vallone, Roberta; Conforti, Alessandro; DE ROSA, Pasquale; Tomaiuolo, Rossella; Cariati, Federica. - In: BIOCHIMICA CLINICA. - ISSN 0393-0564. - 41:4(2017), pp. 314-321. [10.19186/BC_2017.043]
Indicazioni e limiti della diagnosi genetica preimpianto
Tomaiuolo, Rossella;
2017-01-01
Abstract
The preimplantation genetic diagnosis allows to identify genetic disease and chromosomal alterations in early stages of embryonic development, giving the opportunity to overcome the risk of transmitting an inherited disease and to improve the efficiency of in vitro fertilization techniques. In this paper, we provide an overview of indications and of the advantages and limits of techniques used to perform the preimplantation genetic diagnosis. We describe the multiplex-polymerase chain reaction (PCR) and the karyomapping for the genetic diagnosis of inherited disease as well as the comparative genomic hybridization array, the qualitative real-time PCR and the next generation sequencing for the screening of chromosomal aneuploidy.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
