PubMed · 9888273
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J L Ecker. 1999. Just do it.. https://doi.org/10.1097/00001648-199901000-00003
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The origin of human triploidy is controversial. Early cytogenetic studies found the majority of cases to be paternal in origin; however, recent molecular analyses have challenged these findings, suggesting that digynic triploidy is the most common source of triploidy. To resolve this dispute, we examined 91 cases of human triploid spontaneous abortions to (1) determine the mechanism of origin of the additional haploid set, and (2) assess the effect of origin on the phenotype of the conceptus. Our results indicate that the majority of cases were diandric in origin because of dispermy, whereas the maternally-derived cases mainly originated through errors in meiosis II. Furthermore, our results indicate a complex relationship between phenotype and parental origin: paternally-derived cases predominate among "typical" spontaneous abortions, whereas maternally-derived cases are associated with either early embryonic demise or with relatively late demise involving a well-formed fetus. As the cytogenetic studies relied on analyses of the former type of material and the molecular studies on the latter sources, the discrepancies between the data sets are explained by differences in ascertainment. In studies correlating the origin of the extra haploid set with histological phenotype, we observed an association between paternal-but not maternal-triploidy and the development of partial hydatidiform moles. However, only a proportion of paternally derived cases developed a partial molar phenotype, indicating that the mere presence of two paternal genomes is not sufficient for molar development.
BACKGROUND: Cervical carcinoma occurs frequently in young women who would like to preserve their childbearing potential. For those with early stage invasive lesions, the authors designed and performed radical trachelectomy, a surgical procedure that preserves the functions of the uterus. METHODS: Radical trachelectomy combines laparoscopic (for pelvic lymphadenectomy) and transvaginal approaches. Between April 1987 and December 1996, 56 patients were scheduled for this procedure, and 47 underwent it. The charts of these patients were retrospectively reviewed for medical and obstetric history, characteristics and complications of surgical procedures, pathologic findings, postoperative obstetric results, and cancer recurrences. RESULTS: The mean durations of the laparoscopic and vaginal steps of the procedure were 62 and 67 minutes, respectively. One intraoperative complication (cystotomy) and seven postoperative complications (drainage of pelvic collection) were observed. The pathologic tumor classification was International Union Against Cancer (UICC) pT1a1 (International Federation of Gynecology and Obstetrics [FIGO] Stage pIA1) in 5 cases, UICC pT1a2 (FIGO Stage pIA2) in 13 cases, UICC pT1b (FIGO Stage pIB) in 25 cases, UICC pT2a (FIGO Stage pIA2) in 1 case, and UICC pT2b (FIGO pIIB) in 3 cases. The mean follow-up was 52 months. Two recurrences (4%) were observed (one lateropelvic and one distant), and one patient died of disease progression. Despite a 25% rate of late miscarriages, 13 normal children were born after radical trachelectomy. CONCLUSIONS: In young patients affected by early invasive cervical carcinoma, radical trachelectomy does not appear to increase the rate of recurrence. It carries a relative risk of infertility and late miscarriage but makes it possible for some patients to become pregnant and give birth to normal newborns. Thus, it seems reasonable to offer this procedure in selected cases, provided that each patient is fully informed and the surgeon properly trained.
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