2014
DOI: 10.12809/hkmj134087
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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.

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Cited by 5 publications
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“…Nowadays, it is no longer rare for centres to be confronted with applicants asking for such 'combination PGT' (cPGT-M/SR). Two case reports describe cPGT-M for Tay-Sachs and Gaucher disease and a cPGT-M/SR for a reciprocal translocation and alfathalassemia (Altarescu et al, 2007;Lee et al, 2014). Kuliev et al (2014) listed a small series of cPGT-M treatments including combinations of single-gene disorders like Charcot-Marie-Tooth and Fabry disease; HBOC (hereditary breast and ovarian cancer) and SMA (spinal muscular atrophy) and HBOC and MEN1 (multiple endocrine neoplasms type 1).…”
Section: Introductionmentioning
confidence: 99%
“…Nowadays, it is no longer rare for centres to be confronted with applicants asking for such 'combination PGT' (cPGT-M/SR). Two case reports describe cPGT-M for Tay-Sachs and Gaucher disease and a cPGT-M/SR for a reciprocal translocation and alfathalassemia (Altarescu et al, 2007;Lee et al, 2014). Kuliev et al (2014) listed a small series of cPGT-M treatments including combinations of single-gene disorders like Charcot-Marie-Tooth and Fabry disease; HBOC (hereditary breast and ovarian cancer) and SMA (spinal muscular atrophy) and HBOC and MEN1 (multiple endocrine neoplasms type 1).…”
Section: Introductionmentioning
confidence: 99%