PubMed · 11652853
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Jane Greenlaw. 1994. Introductory remarks.. https://pubmed.ncbi.nlm.nih.gov/11652853/
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CASE REPORT: We present the first application of comparative genomic hybridisation (CGH) in fetal brain tumours in the case of a fetal immature teratoma. The tumour was discovered in a female fetus at 22 weeks gestation after presentation with significant craniomegaly of such degree that the head size measured by sonography was found to correspond to a gestational age of 37 weeks, and the pregnancy was terminated. RESULTS: Neuropathological examination showed an immature teratoma measuring 1.7 x 1.6 x 0.5 cm and containing tissue from all three germinal layers. CGH was successfully performed and, in contrast to earlier results in both cerebral and extracerebral teratomas also investigated with the same technique, it revealed no chromosomal imbalances. CONCLUSION: This indicates that mono- or trisomies did not have a role in the pathogenesis in this particular case and that a fetal immature teratoma may contain aberrations smaller than the detection threshold of CGH. However, it remains to be seen in larger cohorts whether fetal teratomas follow a different pathogenetic pathway and may be triggered by different molecular events than teratomas occurring in later life.
Prenatal testing for a BRCA mutation, the hereditary trait for mammary and ovarian carcinoma, with the intention of selective termination of pregnancy in case of a female carrier is a controversial ethical issue. Based on a review of the (limited) medical literature as well as of Dutch policy statements relating to this subject, the following conclusions and recommendations are proposed: (a) the decision to opt for prenatal BRCA testing and selective termination of pregnancy in case of a BRCA mutation in the foetus cannot immediately be judged unacceptable from an ethical point of view; (b) prenatal BRCA testing is morally defensible only in case of a female foetus and if the parents at least have the intention to terminate the pregnancy if the foetus is a carrier, although the final decision is in any case up to the parents only; (c) prental testing for a BRCA mutation should only be done after extensive counselling of the parents, during which not only the medical genetic aspects but also the ethical aspects of prenatal BRCA testing are discussed.
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