Ruangvutilert, Pornpimol; (2000) Genetic analysis of embryonic and fetal tissues. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

In this thesis, genetic analysis has been performed on embryonic and fetal material. Firstly, it was used to demonstrate the presence of fetal cells in the cervical mucus of pregnant women in the first trimester. Several studies have shown that fetal cells are present in the cervical canal but some reports have not identified these cells. In the present study, fetal genetic material was demonstrated in the cervical mucus from 66 of 193 (34%) women who underwent termination of pregnancy and from 7 in 37 (19%) on-going pregnancies. The polymerase chain reaction (PCR) was more efficient in detecting fetal cells than fluorescent in situ hybridisation (FISH). Secondly, FISH was used to determine the level of the trisomic cell line in different tissues, including placenta, from first and second trimester trisomic fetuses obtained from termination of pregnancy. Several studies have suggested that there are correlations between the degree of mosaicism in a chromosomally abnormal fetus, the severity of the disease and the chance of survival to term. The level of abnormal cells obtained from this study appeared not to be correlated with the clinical manifestations and the survival potential. As a side-line of this work, the efficiency of FISH on metaphase and interphase nuclei from skin fibroblast cultures from a trisomic and a triploid fetuses was determined. Finally, FISH was used to determine the mosaicism in human embryos on day 5 post-insemination, both arrested and blastocyst stage embryos. Mosaicism was found in 80% of the arrested embryos and 90% of the blastocysts. This may have an implication for preimplantation genetic diagnosis using blastocyst biopsy. In conclusion, FISH and PCR were used to study fetal genetic material in cervical mucus; FISH was used to study percentages of abnormal cell lines in trisomic fetal tissues and blastomeres from day-5 embryos.

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