title: Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major.
abstract: PGD is a well accepted reproductive choice for couples at genetic risk and involves the diagnosis and transfer of unaffected IVF embryos. PGD for monogenetic diseases is most commonly accomplished by the biopsy of one or two blastomeres from cleavage stage embryos, followed by PCR-based protocols. However, PCR-based DNA analysis of one or two cells is subject to several problems, including total PCR failure, or failure of one allele to amplify. Trophectoderm biopsy at the blastocyst stage enables the removal of more than two cells for diagnosis while being non-invasive to the inner cell mass which is destined for fetal development. The aim of this study was to develop a safe, reliable technique for the biopsy of trophectoderm cells from human blastocysts. This case report demonstrates that removal of trophectoderm cells prior to blastocyst transfer is compatible with implantation and development to term. Here we report successful PGD for beta-thalassaemia following trophectoderm cell biopsy from blastocysts and the birth of a healthy infant.
authors.affiliation: Centre for Human Reproduction, Genesis Hospital, Halandri, Athens, Greece. georgiakokkali@mail.com
authors.forename: G
authors.initials: G
authors.lastname: Kokkali
authors.forename: C
authors.initials: C
authors.lastname: Vrettou
authors.forename: J
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: G M
authors.initials: GM
authors.lastname: Jones
authors.forename: D S
authors.initials: DS
authors.lastname: Cram
authors.forename: D
authors.initials: D
authors.lastname: Stavrou
authors.forename: A O
authors.initials: AO
authors.lastname: Trounson
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: K
authors.initials: K
authors.lastname: Pantos
mesh_terms: D000328:Adult; D001483:Base Sequence; D001706:Biopsy / Q000379:methods; D001755:Blastocyst / Q000166:cytology*; D004247:DNA / Q000235:genetics; D004624:Embryo Transfer; D005260:Female; D005914:Globins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D014327:Trophoblasts / Q000166:cytology; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA