Molecular Human Reproduction, Vol 4, 719-723, Copyright © 1998 by Oxford University Press
E Iwarsson, L Ahrlund-Richter, J Inzunza, B Rosenlund, M Fridstrom, T Hillensjo, P Sjoblom, M Nordenskjold and E Blennow
We report the first established pregnancy using preimplantation genetic
diagnosis in order to avoid chromosomal imbalance in the progeny of a woman
carrying a large inversion of chromosome 5. This is also the first time
where it has been possible to study the distribution of balanced and
unbalanced gametes in a female inversion carrier. In total, 23 embryos were
biopsied in two separate treatments and analysed by fluorescent in-situ
hybridization. Of these, 10 were unbalanced, nine were balanced and for
four the analysis was inconclusive. The diagnostic procedure was performed
within 3.5 h. This allowed the biopsied embryos to be transferred the same
day as the biopsy was taken (day 3). Two embryos were transferred each
time, and in the second treatment a twin pregnancy with two chromosomally
balanced fetuses was established. Healthy twins were delivered at 34 weeks
of gestation.
JOURNAL ARTICLE
Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
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