Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 16, 2021; 9(29): 8797-8803
Published online Oct 16, 2021. doi: 10.12998/wjcc.v9.i29.8797
Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report
Adina Neumann, Miguel Angel Alcantara-Ortigoza, Ariadna González-del Angel, Nestor Alejandro Zarate Díaz, Javier Sam Santana, Leonardo M Porchia, Esther López-Bayghen
Adina Neumann, Laboratorio de Investigación y Diagnóstico Molecular, Ingenes, Mexico City 05320, Mexico
Miguel Angel Alcantara-Ortigoza, Ariadna González-del Angel, Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Mexico City 04530, Mexico
Miguel Angel Alcantara-Ortigoza, Ariadna González-del Angel, DNA-GEN S.C. Centro de Alta Especialidad en Genética Humana, Mexico City 14070, Mexico
Nestor Alejandro Zarate Díaz, Javier Sam Santana, Investigación Clínica, Ingenes, Puebla 72820, Mexico
Leonardo M Porchia, Esther López-Bayghen, Departamento de Toxicología, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Mexico City 07360, Mexico
Author contributions: The project was conceived by Neumann A and López-Bayghen E; Data acquisition was performed by Neumann A, González-del Angel A, Alcantara-Ortigoza MA, Santana JS and Zarate Díaz NA, where González-del Angel A and Alcantara-Ortigoza MA assessed genetic data, sequencing, and alignments, Neumann A collected genomic data, Santana JS and Zarate Díaz NA were handling the case as the embryologist and clinician, respectively, collecting information regarding the parental history and IVF data; data analysis and interpretation were performed by Neumann A, González-del Angel A, and Alcantara-Ortigoza MA; Neumann A, Zarate Díaz NA, Porchia LM, and López-Bayghen E drafted the article and critically revised it; all authors have approved the final version of the manuscript.
Informed consent statement: Both patients provided written informed consent to participate in this study, in accordance with the Declaration of Helsinki. Written informed consent was obtained from the patient(s) for their anonymized information to be published in this article.
Conflict-of-interest statement: The authors have no relevant financial or non-financial interests to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Esther López-Bayghen, PhD, Professor, Departamento de Toxicología, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Avenida Instituto Politécnico Nacional 2508, San Pedro Zacatenco, Mexico City 07360, Mexico. ebayghen@cinvestav.mx
Received: December 16, 2020
Peer-review started: December 16, 2020
First decision: July 16, 2021
Revised: July 28, 2020
Accepted: September 7, 2021
Article in press: September 7, 2021
Published online: October 16, 2021
Processing time: 296 Days and 7.3 Hours
Core Tip

Core Tip: Propionic acidemia is an uncommon monogenetic disorder resulting in inherited severe complications and death. A heterozygous genotype for a pathogenic variant of the propionyl-Coenzyme A carboxylase alpha subunit gene (PCCA) was located in a fertile Mexican couple. Here we show that a couple can reduce the transmission of a pathogenic variant of a gene using in vitro fertilization, genetic counseling, and sequencing of a whole genome amplification template. Furthermore, after embryo transfer, we report the delivery of a healthy male newborn without propionic acidemia.