Open AccessWhole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report
Author(s) -
Adieumann,
Miguel Ángel Alcántara-Ortigoza,
Ariadna González-del Ángel,
Nestor Alejandro Zarate Díaz,
Javier Sam Santana,
Leonardo M. Porchia,
Esther López-Bayghen
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i29.8797
Subject(s) - genetic testing , medicine , genetics , sanger sequencing , genotype , in vitro fertilisation , pregnancy , andrology , biology , dna sequencing , gene
Identifying a potential single monogenetic disorder in healthy couples is costly due to the Assisted Reproduction facilities' current methodology for screening, which focuses on the detecting multiple genetic disorders at once. Here, we report the successful application of a low-cost and fast preimplantation genetic testing for monogenic/single gene defects (PGT-M) approach for detecting propionic acidemia (PA) in embryos obtained from a confirmed heterozygous propionyl-CoA carboxylase alpha subunit ( PCCA ) couple.