Live birth following double-factor pre-implantation genetic diagnosis for both reciprocal translocation and alpha-thalassaemia

Hong Kong Med J. 2014 Jun;20(3):251-4. doi: 10.12809/hkmj134087.

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.

Keywords: Live birth; Translocation, genetic; alpha-Thalassemia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Live Birth
  • Pregnancy
  • Preimplantation Diagnosis / methods*
  • Translocation, Genetic*
  • alpha-Thalassemia / diagnosis*
  • alpha-Thalassemia / genetics