Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome carrier after blastocyst trophectoderm preimplantation genetic diagnosis.

Abstract

To investigate the applicability of preimplantation genetic diagnosis (PGD), we used trophectoderm (TE) biopsy to determine the mutation load in a 35-year-old female with mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome (MELAS). Transfer of a mutation-free blastocyst gave birth to a healthy boy with undetectable mutation in any of the analyzed tissues. We found strong correlation among TE cells (r=0.90) within blastocysts and also between cytoplasmic fragments and TE (r=0.95). This is the first case of mutation-free baby born from a MELAS patient after TE biopsy and supports the applicability of blastocyst PGD for patients with mtDNA disorders to establish healthy offspring.

• Authors: Björn Heindryckx, Jitesh Neupane, Mado Vandewoestyne, Christodoulos Christodoulou, Yens Jackers, Jan Gerris, Etienne Van den Abbeel, Rudy Van Coster, Dieter Deforce, Petra De Sutter
• Journal: Mitochondrion (Mitochondrion) Vol. 18 Pg. 12-7 (Sep 2014) ISSN: 1872-8278 [Electronic] Netherlands
• PMID: 25159128 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Topics

• Adult
• Biopsy
• Embryo Transfer
• Female
• Humans
• Infant, Newborn
• MELAS Syndrome (diagnosis, prevention & control)
• Male
• Pregnancy
• Pregnancy Complications
• Preimplantation Diagnosis