Sinclair, Calum Gordon; (1997) Molecular cytogenetic investigations into infertility, recurrent in vitro fertilisation failure and multiple miscarriage. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

This thesis is the cytogenetic study of three patient groups with different reproductive problems. The first patient group consisted of couples suffering from three or more miscarriages, who had previously been diagnosed as cytogenetically normal by a diagnostic laboratory. The group was analysed in greater depth, alongside fertile controls, for the presence of a low level mosaic 45,X cell line. Forty metaphase cells were analysed by G banding, and 450 interphase cells were analysed by FISH using a biotinylated chromosome X specific centromeric probe. The patient group consisted of thirteen couples and seven females, and the control group of fifteen couples. G-band analysis revealed more cells with sex chromosome aneuploidy from the females in the patient group than the females in the control group (weakly significant p 0.1). FISH analysis revealed a much stronger correlation between the patient group and X0 mosaicism (p 0.05). When patients and controls were directly compared in a paired manner, 6 patients were identified as being X0 mosaics. If this selection was graphically based (figure 5) the number of mosaic patients increased to nine. The percentages of X0 cells from the patient group did not correlate with age, whereas there was an age dependant correlation in the control group. The second study was on patients who have had three or more failed IVF.attempts Cultured peripheral lymphocytes were analysed from the patient group (twenty two couples and twenty one females) and the control group (ten couples and five females). There were no constitutional abnormalities found, however three patients were found to be mosaic for three different abnormal cell lines (45,X, 47,XX+11 and 47,XX+ 18). Forty six preimplantation embryos (4 to 8 cell stage) obtained from the patient group were analysed, by FISH, using DNA probes for chromosomes 1, X and Y. 62.5% of these embryos were abnormal, with no embryos with constitutional abnormalities observed. The third study consisted of three couples carrying different balanced translocations. Probes were sought and evaluated for the possibility of preimplantation diagnosis using FISH. Suitable probes were found for two of the couples. Analysis of spare preimplantation embryos from one of the couples using the appropriate probes revealed all embryos to be chaotic.

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