title: Live birth following double-factor pre-implantation genetic diagnosis for both reciprocal translocation and alpha-thalassaemia.
abstract: We report a live birth from a couple with two genetic diseases, namely: reciprocal translocation carrier and alpha-thalassaemia trait, following pre-implantation genetic diagnostic tests. This is the first case in Hong Kong in which the technique of using one blastomere biopsy for two diseases was established, using array comparative genomic hybridisation and polymerase chain reaction.
authors.affiliation: Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
authors.forename: Vivian C Y
authors.initials: VC
authors.lastname: Lee
authors.affiliation: Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
authors.forename: Judy F C
authors.initials: JF
authors.lastname: Chow
authors.affiliation: Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
authors.forename: Estella Y L
authors.initials: EY
authors.lastname: Lau
authors.affiliation: Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
authors.forename: William S B
authors.initials: WS
authors.lastname: Yeung
authors.affiliation: Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
authors.forename: Ernest H Y
authors.initials: EH
authors.lastname: Ng
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D050498:Live Birth; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics
keywords: Live birth; Translocation, genetic; alpha-Thalassemia