title: 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.affiliation: Department for Reproductive Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: bjorn.heindryckx@ugent.be.
authors.forename: Björn
authors.initials: B
authors.lastname: Heindryckx
authors.affiliation: Department for Reproductive Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: jitesh.neupane@ugent.be.
authors.forename: Jitesh
authors.initials: J
authors.lastname: Neupane
authors.affiliation: Laboratory for Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Harelbekestraat 72, 9000 Ghent, Belgium. Electronic address: mado.vandewoestyne@gmail.com.
authors.forename: Mado
authors.initials: M
authors.lastname: Vandewoestyne
authors.affiliation: Department for Reproductive Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: christodoulos.christodoulou@uzgent.be.
authors.forename: Christodoulos
authors.initials: C
authors.lastname: Christodoulou
authors.affiliation: Laboratory for Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Harelbekestraat 72, 9000 Ghent, Belgium. Electronic address: yens.jackers@ugent.be.
authors.forename: Yens
authors.initials: Y
authors.lastname: Jackers
authors.affiliation: Department for Reproductive Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: jan.gerris@uzgent.be.
authors.forename: Jan
authors.initials: J
authors.lastname: Gerris
authors.affiliation: Department for Reproductive Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: etienne.vandenabbeel@uzgent.be.
authors.forename: Etienne
authors.initials: E
authors.lastname: Van den Abbeel
authors.affiliation: Department of Pediatric Neurology & Metabolism, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: rudy.vancoster@ugent.be.
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
authors.affiliation: Laboratory for Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Harelbekestraat 72, 9000 Ghent, Belgium. Electronic address: dieter.deforce@ugent.be.
authors.forename: Dieter
authors.initials: D
authors.lastname: Deforce
authors.affiliation: Department for Reproductive Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: petra.desutter@ugent.be.
authors.forename: Petra
authors.initials: P
authors.lastname: De Sutter
mesh_terms: D000328:Adult; D001706:Biopsy; D004624:Embryo Transfer; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017241:MELAS Syndrome / Q000175:diagnosis* / Q000517:prevention & control*; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications; D019836:Preimplantation Diagnosis
keywords: Blastocyst; Heteroplasmy; Mitochondrial DNA (mtDNA); Preimplantation genetic diagnosis (PGD); Trophectoderm biopsy