TY - JOUR
TI - Birth of a healthy infant following trophectoderm biopsy from
blastocysts for PGD of beta-thalassaemia major: Case report
AU - Kokkali, G
AU - Vrettou, C
AU - Traeger-Synodinos, J
AU - Jones, GM and
AU - Cram, DS
AU - Stavrou, D
AU - Trounson, AO
AU - Kanavakis, E
AU - Pantos, K
JO - MOLECULAR HUMAN REPRODUCTION
PY - 2005
VL - 20
TODO - 7
SP - 1855-1859
PB - Oxford University Press
SN - null
TODO - 10.1093/humrep/deh893
TODO - biopsy; blastocyst; beta-thalassaemia; laser; PGD
TODO - 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.
ER -