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Reproductive genetics and today's patient options: prenatal diagnosis.

Rapid and safe prenatal diagnosis has become the standard of care in high-risk pregnancy. The safety and reliability of prenatal diagnosis by mid-trimester amniocentesis and first-trimester chorionic villus sampling (CVS) are reviewed, and accepted medical indications for referral are defined for both procedures. Techniques for evaluating the fetus for abnormality including amniocentesis, CVS, ultrasound, percutaneous umbilical blood sampling, fetal biopsy, amniotic fluid alpha-fetoprotein analysis, and maternal serum screening are described. The need for appropriate prenatal genetic counseling before any diagnostic modality is emphasized.

Amniocentesis↗

Reevaluating repugnance: a critical analysis of Leon Kass' writings on genetic reproductive technologies.

Recent philosophical and political discourse surrounding the issue of human cloning has dominated both public and academic arenas. With the dual potential to address human disease, distress, and disorder in unprecedented ways, and to offend a vast public uncomfortable with the technology, cloning represents a true political conundrum. Adulterated by the opinion of an uninformed public, the murky waters of public policy-making foster arguments like Leon Kass' "Wisdom of Repugnance." Unfortunately, such appeals to repulsion do not fare as well in the academic arena. Kass proposes that society yield to repugnance as an ethically relevant factor, since the elicitation of such repugnance signifies the defilement of human nature. However, such an application of repulsion and offense to human nature leads to improbable conclusions and internal contradictions that soundly repudiate the acceptance of such a principle. Thus, rather than pre-analytically yielding to visceral emotions and passions, individual rational agents--and the public generally--ought to thoroughly analyze all of the relevant factors surrounding cloning before, and perhaps instead of, rejecting the technology simply because it elicits repugnance.

Biological Evolution↗

Animal models of physiologic markers of male reproduction: genetically defined infertile mice.

The present report focuses on novel animal models of male infertility: genetically defined mice bearing single-gene mutations that induce infertility. The primary goal of our investigations was to identify the reproductive defects in these mutant mice. The phenotypic effects of the gene mutations were deciphered by comparing the mutant mice to their normal siblings. Initially testicular steroidogenesis and spermatogenesis were investigated. The physiologic markers for testicular steroidogenesis were steroid secretion by testes perifused in vitro, seminal vesicle weight, and Leydig cell histology. Spermatogenesis was evaluated by the enumeration of homogenization-resistant sperm/spermatids in testes and by morphometric analyses of germ cells in the seminiferous epithelium. If testicular function appeared normal, we investigated the sexual behavior of the mice. The parameters of male sexual behavior that were quantified included mount patency, mount frequency, intromission latency, thrusts per intromission, ejaculation latency, and ejaculation duration. Females of pairs breeding under normal circumstances were monitored for the presence of vaginal plugs and pregnancies. The patency of the ejaculatory process was determined by quantifying sperm in the female reproductive tract after sexual behavior tests. Sperm function was studied by quantitatively determining sperm motility during videomicroscopic observation. Also, the ability of epididymal sperm to function within the uterine environment was analyzed by determining sperm capacity to initiate pregnancy after artificial insemination. Together, the experimental results permitted the grouping of the gene mutations into three general categories. We propose that the same biological markers used in the reported studies can be implemented in the assessment of the impact that environmental toxins may have on male reproduction.

Animals↗

Reproductive, genetic, and dietary risk factors for ovarian cancer.

A case-control study of 110 women with ovarian epithelial carcinoma and 220 individually age-matched controls was conducted in Hokkaido, Japan, to identify ovarian cancer risk factors. Both the cases and the matched controls were surveyed either from 1980 to 1981 or from 1985 to 1986. Ovarian cancer risk was increased in single women (p less than 0.01), and in women with a family history of breast, uterine, or ovarian cancer in a mother or sister (p less than 0.001). Conversely, risk was decreased in women who had experienced a livebirth (p less than 0.001), an induced abortion (p less than 0.05), or who had had permanent sterilization by tubal ligation (p less than 0.05). Each of the reproductive factors remained significant when adjusted for each other using logistic regression analysis. The odds ratio for ovarian cancer decreased significantly with increasing number of livebirths (p less than 0.001). Furthermore, a significant negative association between anovulatory periods and ovarian cancer risk was noted (p less than 0.01). No association was observed for any types of contraceptive methods other than tubal ligation, but the prevalence of oral contraceptive use was very low. A significant positive association with daily fish consumption (p less than 0.05) and a marginally significant negative association with daily milk consumption (p = 0.05) were also observed.

Diet↗