Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of β-thalassaemia major:: Case report

被引:63
作者
Kokkali, G
Vrettou, C
Traeger-Synodinos, J
Jones, GM
Cram, DS
Stavrou, D
Trounson, AO
Kanavakis, E
Pantos, K
机构
[1] Genesis Hosp, Ctr Human Reprod, Athens 15232, Greece
[2] Univ Athens, St Sophias Childrens Hosp, Med Genet Lab, Athens 15232, Greece
[3] Monash Univ, Monash Immunol & Stem Cell Labs, Melbourne, Vic 3004, Australia
[4] Monash IVF, Melbourne, Vic, Australia
关键词
biopsy; blastocyst; beta-thalassaemia; laser; PGD;
D O I
10.1093/humrep/deh893
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
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.
引用
收藏
页码:1855 / 1859
页数:5
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