Fetopathological examination for the fetuses with Down syndrome in Tunisia: Epidemiological study and associated malformations.

BACKGROUND: For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data. AIM OF THE STUDY: The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome. METHODS: Our retrospective study was realized for 144 fetuses with DS among 9321 autopsied fetuses in embryo-fetopathological service between 1994 and 2011. RESULTS: In our study, the majority of mothers (72.91%) were 35 years and older, with a statistically significant difference (p<10-6, OR=16.7, CI=8.7-32.4). The abnormalities of extremities (31%) were the most common fetal abnormalities followed by facial (23.51%) and digestive abnormalities (19.63%). CONCLUSION: One of the main conclusions of this research is that the most common risk factor for DS is maternal age. On the other hand, the type and the frequency of associated congenital anomalies with DS are still controversial.

[Evaluation of different techniques for vaginoplasty in the treatment of Mayer-Rokitansky-Kuster-Hauser syndrome]. / Evaluation des différentes techniques de vaginoplastie dans le cadre du traitment du syndrome de Mayer-Rokitansky-Küster-Hauser.

BACKGROUND: Rokitansky syndrome is an utero-vaginal aplasia with a frequency of 1 / 5000 female births. To correct this anomaly whose prognosis is mainly functional and psychological numerous surgical techniques have been described. AIMS: To report our experience about 13 patients with Rokitansky syndrome and having benefited from a vaginoplasty between 1993 and 2008 and to evaluate the results of the various anatomical techniques. METHODS: This is a retrospective study of 13 patients who underwent a vaginoplasty in the center of maternity and neonatal units, over a period from December 1993 to April 2008. During this period, two operative techniques were used: the technique of Mac-Indoe and the technique of Davydov. RESULTS: The mean age at the time of surgery was 22 years (15 years-32 years). In 6 patients operated using the technique of Davydov the average depth of neovagina was 6.83 cm, one treatment failure was noted. Among the 7 patients operated using the technique of Mac Indoe the average length of neovagina was 7 cm, 3 treatment failures were noted. It was noted that there was no failure of the anatomical results in patients who have had regular sex after surgery. It was noted that there was failure of the anatomical result in 4 of 9 patients who did not have sexual intercourse after the procedure regardless of the technique used, a failure rate of 44%. CONCLUSION: The choice of technique will be based on the experience of the teams as each technique has similar anatomical and functional results in the literature. Both anatomical and functional, the main factor that determines the success of treatment seems to be the motivation of the patient to have a married life and sexual relationship.