[Rectal prolapse revealing a tumor: The role of abdominal ultrasound]. / Prolapsus rectal révélant une tumeur : intérêt de l'échographie abdominale, à propos de 3 cas.

Rectal prolapse is rare in children and usually benign. However, there are various diseases that can be associated with it, such as cystic fibrosis or other causes of increased abdominal pressure. Here, we review the various underlying conditions that pediatricians or pediatric gastroenterologists should consider in the case of rectal prolapse. We report on three cases of children with a rectal prolapse and intra-abdominal tumors. Current recommendations and practice do not include a systematic check via abdominal imaging in cases of rectal prolapse. However, in some situations, imaging is indicated to detect a possible expansive process. Thus, in the presence of recurrent prolapse or of associated urinary or neurological signs, imaging is justified so as to allow for an early diagnosis and treatment of these neoplasms. Given its lack of radiation exposure and good sensitivity in children, ultrasound imaging is the first choice.

Women's interpretation of an abnormal result on measurement of fetal nuchal translucency and maternal serum screening for prenatal testing of Down syndrome.

OBJECTIVE: To assess the effects of sociodemographic and health-provider factors on women's understanding of abnormal results on measurement of nuchal translucency (NT) and maternal serum screening (MSS), 18 months after the implementation of a policy aimed at increasing women's awareness regarding MSS. METHODS: A representative sample of women (n = 734) who gave birth in Parisian maternity units in 1999 were asked about their understanding of an abnormal result on MSS and NT. We assessed the effects of sociodemographic and health-provider factors on the probability of women interpreting an abnormal result correctly, misinterpreting it as a definitive diagnosis, or declaring that they did not know how to interpret the result. Response rate was 92% and the analyses included multinomial models. RESULTS: For both MSS and NT measurement, the majority of women interpreted an abnormal result correctly. However, there were substantial sociodemographic differences in the probability of women interpreting an abnormal result correctly, and more so in the probability of their declaring not to know how to interpret the result. The probability of correct interpretations was substantially higher, and that of declaring not to know how to interpret the result substantially lower, for MSS than NT measurement. However, for several sociodemographic groups, the proportion of women who misinterpreted an abnormal result on screening as indicative of a definitive diagnosis was also higher for MSS as compared with NT measurement. CONCLUSIONS: These findings underscore the need for additional efforts, along with alternative strategies, to inform women about the implications of prenatal screening, particularly in the case of measurement of NT.

[Trends in antenatal diagnosis, pregnancy termination and perinatal mortality in infants with congenital heart disease: evaluation in the general population of Paris 1983-2000]. / Evolution du diagnostic prénatal, des interruptions de grossesse et de la mortalité périnatale des enfants avec cardiopathie congénitale: évaluation en population générale à Paris entre 1983 et 2000.

OBJECTIVE: To examine population-based overall and malformation-specific trends in the prenatal diagnosis, pregnancy termination, and perinatal mortality for congenital heart disease (CHD) during a period of rapid progress in prenatal diagnosis and medical management of CHD and to explore the impact of prenatal diagnosis on early neonatal mortality for specific (isolated) cardiac malformations. METHODS: A total of 1982 cases of CHD, which were not associated with a known chromosomal anomaly, were obtained from the Paris Registry of Congenital Malformations. Main outcome measures were trends in the proportions diagnosed and terminated prior to birth, stillbirth and early (<1 day, one-week) neonatal mortality for (1) all cases; (2) all cases excluding isolated ventricular septal defects; and (3) malformation-specific trends for transposition of great arteries, hypoplastic left heart syndrome, coarctation of aorta, and tetralogy of Fallot. Analyses included cusum and binomial regression models for analysis of the trends during 1983-2000. RESULTS: Prenatal diagnosis rates for CHD increased from 23.0% (95%CI: 19.0-27.4) in 1983-1988 to 47.3% (95%CI: 43.8-50.8) in 1995-2000. Termination rates increased between 1983 and 1989 (9.9%; 95%CI: 7.2-13.2) and 1989 and 1994 (14.7%; 95%CI: 12.3-17.4) but seemed to remain stable thereafter. Other than for hypoplastic left heart syndrome, pregnancy termination was exceptional for the other 3 specific malformations examined. Early neonatal mortality decreased to less than a third in the period 1995-2000 as compared with 1983-1989 (risk ratio, first week mortality: 0.31; 95%CI: 0.18-0.53). First week mortality was significantly lower for cases of transposition of great arteries diagnosed before birth (risk difference: 15.4%; 95% CI: 4.0-26.7). CONCLUSION: Progress in clinical management, together with policies for increased access to prenatal diagnosis, has resulted in both a substantial increase in the prenatal diagnosis and considerable reductions in early neonatal mortality of CHD in the Parisian population.

[Prevalence and prenatal diagnosis of congenital malformations in the Parisian population: twenty years of surveillance by the Paris Registry of congenital malformations]. / Prévalence et diagnostic prénatal des malformations en population parisienne. Vingt ans de surveillance par le Registre des malformations congénitales de Paris.

OBJECTIVES: To assess overall and malformation-specific trends in the prevalence, prenatal diagnosis and pregnancy termination of congenital malformations in the Parisian population. METHODS: We used data from the Paris Registry of Congenital Malformations, which includes all births and pregnancy terminations with structural birth defects or chromosomal anomalies. Data on total and live birth prevalence were available for the period 1981-2000 and for prenatal diagnosis and pregnancy terminations for 1983-2000. Twenty malformations were selected for malformation-specific analyses due to their higher frequency and consistent definitions in different classification systems. RESULTS: For the period 1981-2000, the overall total prevalence of malformations was 3.2%. Prenatal diagnosis rates consistently increased from 16.2% (95% CI, 13.8-18.6) of cases with malformation in 1983 to 69.1% (95% CI, 66.7-71.5) in 2000. Pregnancy terminations increased from 8.8% (95% CI, 7.0-10.8) of cases with malformation in 1983 to 30.1% (95% CI, 27.7-32.6) in 2000. CONCLUSION: Registries of congenital malformations provide population-based data on the prevalence of malformations and their associations with other anomalies. Registry-based data can also be used to evaluate the impact of prenatal testing policies for congenital malformations.