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Journal of Assisted Reproduction and Genetics

Published in:

01-03-2011 | Genetics

Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia

Authors: Trinitat M. Alberola, Rosa Bautista-Llácer, Xavier Vendrell, Elena García-Mengual, Merche Pardo, Maria Vila, Carmen Calatayud

Published in: Journal of Assisted Reproduction and Genetics | Issue 3/2011

Abstract

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.

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Title: Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia
Authors: Trinitat M. Alberola
Rosa Bautista-Llácer
Xavier Vendrell
Elena García-Mengual
Merche Pardo
Maria Vila
Carmen Calatayud
Publication date: 01-03-2011
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 3/2011
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-010-9514-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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