Human Reproduction, Vol. 16, No. 11, 2267-2273,
November 2001
© 2001 European Society of Human Reproduction and Embryology
Robertsonian translocations—reproductive risks and indications for preimplantation genetic diagnosis
1 Guy's & St Thomas' Centre for PGD, Cytogenetics Department 5th Floor, Guy's Tower, St Thomas Street, London SE1 9RT, 2 Clinical Genetics, 7th Floor, New Guy's House, St Thomas Street, London SE1 9RT and 3 Assisted Conception Unit, 10th Floor North Wing, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, UK4
BACKGROUND: 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). METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Key words: PGD/reproductive risks/Robertsonian translocation
4 To whom correspondence should be addressed. E-mail: paul.scriven{at}gstt.sthames.nhs.uk
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