Robertsonian translocations - reproductive risks and indications for preimplantation genetic diagnosis

P N Scriven, F A Flinter, P R Braude, C M Ogilvie

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117 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)2267 - 2273
Number of pages7
JournalHuman Reproduction
Volume16
Issue number11
DOIs
Publication statusPublished - 2001

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