caa a22 4500 445817178 CHVBK 20180317145232.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s10815-010-9514-4 doi (NATIONALLICENCE)springer-10.1007/s10815-010-9514-4 Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia [Elektronische Daten] [Trinitat Alberola, Rosa Bautista-Llácer, Xavier Vendrell, Elena García-Mengual, Merche Pardo, Maria Vila, Carmen Calatayud] Purpose: Development of an ad hoc protocol for the preimplantion genetic diagnosis of propionic acidemia in a couple carrying the mutations c.737G>T (G246V) and c.1218del14ins12 (ins/del) in the PCCB gene. Propionic acidemia is an autosomal recessive metabolic disorder where the body is unable to process certain parts of proteins and lipids. Symptoms manifest few days after birth and sometimes progress to more serious medical problems, including heart abnormalities, coma and death. Methods: Four short tandem repeat markers closely linked to the PCCB gene were tested, in order to support the direct mutation detection diagnosis. Multiplex fluorescent heminested polymerase chain reaction followed by fragment analysis and minisequencing was used. Results: Fourteen single blastomeres from nine embryos were tested and two carrier embryos were transferred, resulting in the birth of two healthy boys. Conclusions: Preimplantation genetic diagnosis represents a valid reproductive option for couples affected of propionic acidemia, in order to avoid transmission to offspring. Springer Science+Business Media, LLC, 2010 Molecular PGD nationallicence Monogenic disease nationallicence Preimplantation genetic diagnosis nationallicence Propionic acidemia nationallicence Alberola Trinitat Molecular-PGD Laboratory, Sistemas Genómicos S.L. Paterna, Valencia, Spain aut Bautista-Llácer Rosa Molecular-PGD Laboratory, Sistemas Genómicos S.L. Paterna, Valencia, Spain aut Vendrell Xavier Head of the Reproductive Genetics Unit, Sistemas Genómicos S.L. Paterna, Valencia, Spain aut García-Mengual Elena Reproductive Genetics Laboratory, Valencia, Spain aut Pardo Merche Molecular-PGD Laboratory, Sistemas Genómicos S.L. Paterna, Valencia, Spain aut Vila Maria Assisted Reproduction Medical Centre CREA, Valencia, Spain aut Calatayud Carmen Assisted Reproduction Medical Centre CREA, Valencia, Spain aut Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/3(2011-03-01), 211-216 1058-0468 28:3<211 2011 28 10815 https://doi.org/10.1007/s10815-010-9514-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10815-010-9514-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Alberola Trinitat Molecular-PGD Laboratory, Sistemas Genómicos S.L. Paterna, Valencia, Spain aut NATIONALLICENCE 700 1- Bautista-Llácer Rosa Molecular-PGD Laboratory, Sistemas Genómicos S.L. Paterna, Valencia, Spain aut NATIONALLICENCE 700 1- Vendrell Xavier Head of the Reproductive Genetics Unit, Sistemas Genómicos S.L. Paterna, Valencia, Spain aut NATIONALLICENCE 700 1- García-Mengual Elena Reproductive Genetics Laboratory, Valencia, Spain aut NATIONALLICENCE 700 1- Pardo Merche Molecular-PGD Laboratory, Sistemas Genómicos S.L. Paterna, Valencia, Spain aut NATIONALLICENCE 700 1- Vila Maria Assisted Reproduction Medical Centre CREA, Valencia, Spain aut NATIONALLICENCE 700 1- Calatayud Carmen Assisted Reproduction Medical Centre CREA, Valencia, Spain aut NATIONALLICENCE 773 0- Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/3(2011-03-01), 211-216 1058-0468 28:3<211 2011 28 10815 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer