We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Robertsonian translocations--reproductive risks and indications for preimplantation genetic diagnosis.
- Authors
Scriven, P. N.; Flinter, F. A.; Braude, P. R.; Ogilvie, C. Mackie; Ogilvie, C M
- Abstract
<bold>Background: </bold>Robertsonian translocations carry reproductive risks that are dependent on the chromosomes involved and the sex of the carrier. We describe five couples that presented for preimplantation genetic diagnosis (PGD).<bold>Methods: </bold>PGD was carried out using cleavage-stage (day 3) embryo biopsy, fluorescence in-situ hybridization (FISH) with locus-specific probes, and day 4 embryo transfer.<bold>Results: </bold>Couple A (45,XX,der(14;21)(q10;q10)) had two previous pregnancies, one with translocation trisomy 21. A successful singleton pregnancy followed two cycles of PGD. Couple B (45,XX,der(13;14)(q10;q10)) had four miscarriages, two with translocation trisomy 14. One cycle of PGD resulted in triplets. Couple C (45,XX,der(13;14)(q10;q10)) had four years of infertility; two cycles were unsuccessful. Couple D (45,XY,der(13;14)(q10;q10)) presented with oligozoospermia. A singleton pregnancy followed two cycles of PGD. Couple E (45,XY,der(13;14)(q10;q10)) had a sperm count within the normal range and low levels of aneuploid spermatozoa. PGD was therefore not recommended. No evidence for a high incidence of embryos with chaotic or mosaic chromosome complements was found.<bold>Conclusions: </bold>For fertile couples, careful risk assessment and genetic counselling should precede consideration for PGD. Where translocation couples need assisted conception for subfertility, PGD is a valuable screen for imbalance, even when the risk of viable chromosome abnormality is low.
- Publication
Human Reproduction, 2001, Vol 16, Issue 11, p2267
- ISSN
0268-1161
- Publication type
journal article
- DOI
10.1093/humrep/16.11.2267