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1.
Diabetologia ; 56(7): 1520-30, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23620057

RESUMEN

AIMS/HYPOTHESIS: Consumption of sugar-sweetened beverages has been shown, largely in American populations, to increase type 2 diabetes incidence. We aimed to evaluate the association of consumption of sweet beverages (juices and nectars, sugar-sweetened soft drinks and artificially sweetened soft drinks) with type 2 diabetes incidence in European adults. METHODS: We established a case-cohort study including 12,403 incident type 2 diabetes cases and a stratified subcohort of 16,154 participants selected from eight European cohorts participating in the European Prospective Investigation into Cancer and Nutrition (EPIC) study. After exclusions, the final sample size included 11,684 incident cases and a subcohort of 15,374 participants. Cox proportional hazards regression models (modified for the case-cohort design) and random-effects meta-analyses were used to estimate the association between sweet beverage consumption (obtained from validated dietary questionnaires) and type 2 diabetes incidence. RESULTS: In adjusted models, one 336 g (12 oz) daily increment in sugar-sweetened and artificially sweetened soft drink consumption was associated with HRs for type 2 diabetes of 1.22 (95% CI 1.09, 1.38) and 1.52 (95% CI 1.26, 1.83), respectively. After further adjustment for energy intake and BMI, the association of sugar-sweetened soft drinks with type 2 diabetes persisted (HR 1.18, 95% CI 1.06, 1.32), but the association of artificially sweetened soft drinks became statistically not significant (HR 1.11, 95% CI 0.95, 1.31). Juice and nectar consumption was not associated with type 2 diabetes incidence. CONCLUSIONS/INTERPRETATION: This study corroborates the association between increased incidence of type 2 diabetes and high consumption of sugar-sweetened soft drinks in European adults.


Asunto(s)
Bebidas/estadística & datos numéricos , Diabetes Mellitus Tipo 2/epidemiología , Adulto , Bebidas Gaseosas/estadística & datos numéricos , Europa (Continente)/epidemiología , Femenino , Humanos , Incidencia , Masculino , Edulcorantes
2.
Int J Cancer ; 132(12): 2918-27, 2013 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-23180513

RESUMEN

Epidemiological evidence suggests that the Mediterranean diet (MD) could reduce the risk of breast cancer (BC). As evidence from the prospective studies remains scarce and conflicting, we investigated the association between adherence to the MD and risk of BC among 335,062 women recruited from 1992 to 2000, in ten European countries, and followed for 11 years on average. Adherence to the MD was estimated through an adapted relative Mediterranean diet (arMED) score excluding alcohol. Cox proportional hazards regression models were used while adjusting for BC risk factors. A total of 9,009 postmenopausal and 1,216 premenopausal first primary incident invasive BC were identified (5,862 estrogen or progesterone receptor positive [ER+/PR+] and 1,018 estrogen and progesterone receptor negative [ER-/PR-]). The arMED was inversely associated with the risk of BC overall and in postmenopausal women (high vs. low arMED score; hazard ratio [HR] = 0.94 [95% confidence interval [CI]: 0.88, 1.00] ptrend = 0.048, and HR = 0.93 [95% CI: 0.87, 0.99] ptrend = 0.037, respectively). The association was more pronounced in ER-/PR- tumors (HR = 0.80 [95% CI: 0.65, 0.99] ptrend = 0.043). The arMED score was not associated with BC in premenopausal women. Our findings show that adherence to a MD excluding alcohol was related to a modest reduced risk of BC in postmenopausal women, and this association was stronger in receptor-negative tumors. The results support the potential scope for BC prevention through dietary modification.


Asunto(s)
Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/etiología , Dieta Mediterránea , Riesgo , Europa (Continente)/epidemiología , Femenino , Humanos , Incidencia , Estilo de Vida , Menopausia , Estudios Prospectivos , Receptores de Estrógenos , Receptores de Progesterona , Encuestas y Cuestionarios
3.
Int J Cancer ; 131(6): E963-73, 2012 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-22392502

RESUMEN

Diets high in vegetables and fruits have been suggested to be inversely associated with risk of gastric cancer. However, the evidence of the effect of variety of consumption is limited. We therefore investigated whether consumption of a variety of vegetables and fruit is associated with gastric and esophageal cancer in the European Prospective Investigation into Cancer and Nutrition study. Data on food consumption and follow-up on cancer incidence were available for 452,269 participants from 10 European countries. After a mean follow-up of 8.4 years, 475 cases of gastric and esophageal adenocarcinomas (180 noncardia, 185 cardia, gastric esophageal junction and esophagus, 110 not specified) and 98 esophageal squamous cell carcinomas were observed. Diet Diversity Scores were used to quantify the variety in vegetable and fruit consumption. We used multivariable Cox proportional hazard models to calculate risk ratios. Independent from quantity of consumption, variety in the consumption of vegetables and fruit combined and of fruit consumption alone were statistically significantly inversely associated with the risk of esophageal squamous cell carcinoma (continuous hazard ratio per 2 products increment 0.88; 95% CI 0.79-0.97 and 0.76; 95% CI 0.62-0.94, respectively) with the latter particularly seen in ever smokers. Variety in vegetable and/or fruit consumption was not associated with risk of gastric and esophageal adenocarcinomas. Independent from quantity of consumption, more variety in vegetable and fruit consumption combined and in fruit consumption alone may decrease the risk of esophageal squamous cell carcinoma. However, residual confounding by lifestyle factors cannot be excluded.


Asunto(s)
Neoplasias Esofágicas/prevención & control , Frutas , Neoplasias Gástricas/prevención & control , Verduras , Adenocarcinoma/prevención & control , Adulto , Carcinoma de Células Escamosas/prevención & control , Europa (Continente) , Femenino , Humanos , Masculino , Persona de Mediana Edad , Modelos de Riesgos Proporcionales , Estudios Prospectivos , Riesgo
4.
Eur J Clin Nutr ; 65(5): 635-41, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21346715

RESUMEN

BACKGROUND/OBJECTIVES: Given the importance of nutrition therapy in diabetes management, we hypothesized that food intake differs between individuals with and without diabetes. We investigated this hypothesis in two large prospective studies including different countries and ethnic groups. SUBJECTS/METHODS: Study populations were the European Prospective Investigation into Cancer and Nutrition Study (EPIC) and the Multiethnic Cohort Study (MEC). Dietary intake was assessed by food frequency questionnaires, and calibrated using 24h-recall information for the EPIC Study. Only confirmed self-reports of diabetes at cohort entry were included: 6192 diabetes patients in EPIC and 13 776 in the MEC. For the cross-sectional comparison of food intake and lifestyle variables at baseline, individuals with and without diabetes were matched 1:1 on sex, age in 5-year categories, body mass index in 2.5 kg/m(2) categories and country. RESULTS: Higher intake of soft drinks (by 13 and 44% in the EPIC and MEC), and lower consumption of sweets, juice, wine and beer (>10% difference) were observed in participants with diabetes compared with those without. Consumption of vegetables, fish and meat was slightly higher in individuals with diabetes in both studies, but the differences were <10%. Findings were more consistent across different ethnic groups than countries, but generally showed largely similar patterns. CONCLUSIONS: Although diabetes patients are expected to undergo nutritional education, we found only small differences in dietary behavior in comparison with cohort members without diabetes. These findings suggest that emphasis on education is needed to improve the current behaviors to assist in the prevention of complications.


Asunto(s)
Diabetes Mellitus , Dieta , Adulto , Anciano , Cerveza , Bebidas , Bebidas Gaseosas , Estudios de Cohortes , Diabetes Mellitus/dietoterapia , Carbohidratos de la Dieta/administración & dosificación , Etnicidad , Europa (Continente) , Conducta Alimentaria , Femenino , Frutas , Humanos , Masculino , Persona de Mediana Edad , Educación del Paciente como Asunto , Estudios Prospectivos , Vino
5.
J Hum Nutr Diet ; 24(1): 74-85, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20807301

RESUMEN

BACKGROUND: Recommendations promote a diversified and optimal but not excessive consumption of dairy products. Their efficiency may depend on sociodemographic and economic factors, for which little information is available. Links between these factors and dairy intake were investigated in a large sample of French adults. METHODS: Dietary intakes were assessed using at least six 24-h dietary records collected during a 2-year period from 4574 adults aged 45-60 years. The cost of each food item was estimated from national data. Sociodemographic and economic characteristics were assessed by self-administered questionnaires. Compliance with the current dairy recommendation, distribution of the dairy budget and calcium inadequacy were compared by logistic regression and covariance analyses. RESULTS: Thirty-five percent of subjects complied with the three-per-day dairy recommendation, with more men than women exceeding this (36.2% versus 26.5%, P < 0.0001). The proportion of the dairy budget spent on milk increased with age in men (P = 0.002); in women, it was inversely associated with occupational category (P = 0.009) and residence in an urban area (P = 0.0001). The proportion of this budget spent on cheese increased with education level in women (P = 0.04) and decreased with age in men (P = 0.03). In men, the consumption of cream desserts decreased with age (P = 0.006) and education level (P = 0.002). Dietary calcium inadequacy was more prevalent in women than in men (32.7% versus 14.2%, P < 0.0001). Among women, this prevalence was higher in older subjects (P < 0.0001) and those who lived alone (P = 0.005). CONCLUSIONS: Although compliance with dairy recommendation needs to be improved, sociodemographic and economic factors should be taken into account to improve the efficiency of targeted public health messages.


Asunto(s)
Calcio de la Dieta/administración & dosificación , Productos Lácteos/economía , Productos Lácteos/estadística & datos numéricos , Factores de Edad , Costos y Análisis de Costo , Encuestas sobre Dietas , Escolaridad , Conducta Alimentaria , Femenino , Francia , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Política Nutricional , Factores Sexuales , Factores Socioeconómicos
6.
Int J Obes (Lond) ; 35(3): 416-26, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20661252

RESUMEN

OBJECTIVE: The aim of this study was to examine the association of body mass index (BMI) and weight gain with eating at restaurants and similar establishments or eating at work among 10 European countries of the European Prospective Investigation into Cancer and Nutrition (EPIC) study. SUBJECTS: This study included a representative sample of 24,310 randomly selected EPIC participants. METHODS: Single 24-h dietary recalls with information on the place of consumption were collected using standardized procedures between 1995 and 2000. Eating at restaurants was defined to include all eating and drinking occasions at restaurants, cafeterias, bars and fast food outlets. Eating at work included all eating and drinking occasions at the workplace. Associations between eating at restaurants or eating at work and BMI or annual weight changes were assessed using sex-specific linear mixed-effects models, controlling for potential confounders. RESULTS: In southern Europe energy intake at restaurants was higher than intake at work, whereas in northern Europe eating at work appeared to contribute more to the mean daily intake than eating at restaurants. Cross-sectionally, eating at restaurants was found to be positively associated with BMI only among men (ß=+0.24, P=0.003). Essentially no association was found between BMI and eating at work among both genders. In a prospective analysis among men, eating at restaurants was found to be positively, albeit nonsignificantly, associated with weight gain (ß=+0.05, P=0.368). No association was detected between energy intake at restaurants and weight changes, controlling for total energy intake. CONCLUSION: Among men, eating at restaurants and similar establishments was associated with higher BMI and possibly weight gain.


Asunto(s)
Peso Corporal/fisiología , Ingestión de Alimentos , Ingestión de Energía , Obesidad/epidemiología , Adulto , Anciano , Antropometría , Índice de Masa Corporal , Estudios Transversales , Europa (Continente)/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Restaurantes , Factores de Riesgo , Factores Sexuales , Aumento de Peso/fisiología , Lugar de Trabajo/estadística & datos numéricos
7.
Int J Obes (Lond) ; 33(4): 401-7, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19238153

RESUMEN

OBJECTIVE: The prevalence of overweight in children has markedly increased over the past few decades in France, as in all Western countries. We sought to describe the yearly prevalence of childhood overweight from 1996 to 2006 and to assess whether a shift in trends could be observed dating from the time the Nutrition and Health National Program (PNNS) was set up in France in 2001, in particular according to gender, age and family economic status. DESIGN: We used annual overweight prevalence of standardized 6- to 15-year-old populations (total=26 600) with weight and height measured at health examination centers in the central/western part of France between 1996 and 2006. Regression slopes of overweight prevalence were evaluated between 1996 and 2006, and specifically between 1996 and 2001, and 2001 and 2006. The annual prevalence and estimated slopes were compared in subgroups, taking into account gender, age and economic status of the family. RESULTS: The prevalence increased between 1996 (11.5%) and 1998 (14.8%) and was stable between 1998 and 2006 (15.2%). According to linear regression, the overall trend in prevalence of overweight children between 1996 and 2006 was stable (slope=0.19, P=0.08). Similarly, the prevalence of overweight increased between 1996 and 1998 in boys and girls, in 6-10 year olds, in 11-15 year olds and in non-disadvantaged children, and remained stable thereafter. The prevalence of overweight in the disadvantaged group increased between 1996 (12.8%) and 2001 (18.9%) (slope=1.16, P=0.004) and was stable between 2001 and 2006 (18.2%) (slope=0.09, P=0.78). CONCLUSION: The results of this study reveal a stable prevalence of overweight since 1998 in most groups studied, and since 2001 in the disadvantaged group.


Asunto(s)
Estado Nutricional/fisiología , Sobrepeso/epidemiología , Adolescente , Índice de Masa Corporal , Niño , Femenino , Francia/epidemiología , Encuestas Epidemiológicas , Humanos , Masculino , Programas Nacionales de Salud , Política Nutricional , Sobrepeso/prevención & control , Padres/psicología , Vigilancia de la Población , Prevalencia , Factores de Tiempo
8.
Eur J Clin Nutr ; 63(4): 521-8, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-18212801

RESUMEN

BACKGROUND/OBJECTIVES: Few studies have investigated dietary patterns among French adults. We aimed to identify dietary patterns and their relation with nutrient intakes, sociodemographic, lifestyle and other health indicators in a large population of middle-aged subjects living in France. SUBJECTS/METHODS: Dietary patterns were identified using factor analysis in 5194 women and men aged 45-60 years enrolled in the SU.VI.MAX (Supplémentation en Vitamines et Minéraux Antioxydants) study. Dietary data were based on repeated 24-h dietary records (at least six records during 2 years). RESULTS: Four patterns were identified: (1) 'alcohol and meat products'; (2) 'prudent diet'; (3) 'convenience foods'; and (4) 'starch, sauces, and vegetables'. The first pattern was positively associated with low education, smoking and overweight in both genders, as well as with abdominal obesity in women and treated hyperlipidaemia and/or hypertension in men. The second pattern was positively correlated with high education and being older than 55 years and negatively correlated with current smoking. This pattern was also associated with overweight and low waist circumference in women and with hyperlipidaemia treatment in men. The third pattern was inversely related to age and positively related to higher education in both genders. In men, higher scores were related to living alone and an urban residence. The fourth pattern was associated with high education and an urban residence in men only. CONCLUSIONS: Our study identified four dietary patterns in this population of French middle-aged adults. Associations with sociodemographic, behavioural and health-related factors were found to differ according to dietary patterns. Sex-specific relationships were also found.


Asunto(s)
Dieta/estadística & datos numéricos , Conductas Relacionadas con la Salud , Escolaridad , Análisis Factorial , Femenino , Francia , Humanos , Estilo de Vida , Masculino , Persona de Mediana Edad , Análisis Multivariante , Población Rural , Factores Sexuales , Fumar/epidemiología
9.
Prev Med ; 47(1): 61-5, 2008 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18456313

RESUMEN

OBJECTIVE: To evaluate the ability of the Framingham risk function to predict the 10-year coronary heart disease (CHD) risk in French men. METHODS: 3440 men, aged 45 to 60 years, free of CHD at baseline, were selected from the SU.VI.MAX cohort. The expected number of event, obtained from applying the Framingham risk score to the baseline SU.VI.MAX biological and clinical data of 1994/1996, were compared to the actual risks observed in the cohort. The accuracy of the Framingham risk function was assessed using the area under the receiver operating characteristic (ROC) curve. RESULTS: The overall Framingham risk function predicted twice as many CHD events than observed. The area under the ROC curve for Framingham risk score was 74%. CONCLUSION: The Framingham risk function may discriminate between high risk from low risk subjects, but it is not valid for estimating absolute 10-year CHD risk in this French population.


Asunto(s)
Enfermedad Coronaria/etiología , Glucemia/análisis , Presión Sanguínea , Enfermedad Coronaria/diagnóstico , Enfermedad Coronaria/epidemiología , Francia/epidemiología , Humanos , Lípidos/sangre , Masculino , Persona de Mediana Edad , Curva ROC , Factores de Riesgo
10.
Int J Obes (Lond) ; 32(2): 315-21, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-17968381

RESUMEN

OBJECTIVE: Weight gain is a risk factor for metabolic syndrome (MS). However, it is not known whether weight fluctuations (WF) have a deleterious effect upon MS risk. In the present study, we investigated this association in subjects participating in the SU.VI.MAX cohort. METHODS: MS status was assessed at baseline (1994/1995) and at the end of follow-up (2001/2002) using the National Cholesterol Education Program-Adult Treatment Panel III criteria. WF were estimated with four weight measures during follow-up. Odds ratio (OR, 95% confidence interval (CI)) for incident MS cases was evaluated according to four WF groups (no WF and tertiles of WF) in 3553 middle-aged subjects. RESULTS: The OR (95% CI) for MS was 2.06 (1.20-3.52) for the third WF tertile compared to the first tertile. This association was independent of confounding variables, especially relative weight change during follow-up. Subjects without WF had a 2.72-fold increase (1.64-4.53) for MS risk compared to the first tertile of WF. For MS components taken separately, similar associations were found for raised blood pressure, low high-density lipoprotein-cholesterol and increased waist circumference. CONCLUSION: Our results showed that WF was an independent risk factor for MS after 7 years of follow-up. Moreover, subjects without WF were also at risk for MS, due to the highest weight gain during follow-up. These results support the benefits of weight stability and emphasize the importance of weight gain prevention starting from early adulthood.


Asunto(s)
Glucemia/metabolismo , Síndrome Metabólico/etiología , Obesidad/complicaciones , Aumento de Peso/fisiología , Adulto , HDL-Colesterol/sangre , Método Doble Ciego , Femenino , Humanos , Insulina/sangre , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Factores de Riesgo
11.
Diabetes Metab ; 33(5): 366-71, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17921019

RESUMEN

AIM: Few studies have investigated the relationship between iron stores and measures of atherosclerosis. Most of these studies were cross-sectional and yielded conflicting results. We aimed to assess the relationship between serum ferritin concentrations and dietary iron intake measured at baseline and 7.5 year pulse wave velocity (PWV), intima-media thickness (IMT) and plaques in a group of 824 men and women without known CVD, cancer or hemochromatosis. METHODS: The SUVIMAX study is a randomized double-blind, placebo-controlled primary prevention trial designed to test the effect of antioxidant supplementation in reducing ischemic cardiovascular diseases and cancer. RESULTS: In multivariate analyses, no association was found between baseline serum ferritin levels and IMT 7 years later (beta (95% CI)=0.003 (-0.005;0.011) in men; -0.005 (-0.013;0.004) and -0.001 (-0.011;0.009) in women, before and after menopause, respectively), plaques (OR (95% CI)=1.09 (0.88;1.34) in men; 0.93 (0.66;1.31) and 0.95 (0.70;1.29) in women, before and after menopause, respectively) or PWV (beta (95% CI)=0.078 (-0.154;0.310) in men; -0.018 (-0266;0.231) in women before and after menopause). Results for dietary iron intake were similar. CONCLUSION: Our results do not support the hypothesis that dietary iron intake and body iron stores are deleterious to the structure and function of large arteries in subjects free of CVD, cancer or hemochromatosis.


Asunto(s)
Arterias/fisiología , Enfermedades Cardiovasculares/epidemiología , Ferritinas/sangre , Hierro de la Dieta , Biomarcadores/sangre , Índice de Masa Corporal , Femenino , Humanos , Hierro/sangre , Masculino , Persona de Mediana Edad , Prevención Primaria/métodos , Pulso Arterial
13.
Fetal Diagn Ther ; 22(4): 306-12, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17361086

RESUMEN

OBJECTIVE: We describe the analysis of an apparently balanced inherited reciprocal translocation in a fetus presenting with multiple congenital abnormalities, characterize the structural chromosome rearrangement, and report an unexpected additional imbalance to the inherited rearrangement. METHODS: DNA microarray was used to screen for genomic imbalance in subtelomeric and interstitial critical regions. High-resolution comparative genomic hybridization was used to screen for genomic imbalance at a genome-wide level. Fluorescence in situ hybridization using whole-chromosome painting and specific probes was used to characterize the inherited translocation, and the size of the de novoadditional deletion. RESULTS: An unexpected additional deletion was found in 7qter on derivative 10 of the inherited maternal reciprocal translocation t(7;10)(q11.23; p14). CONCLUSIONS: We show the usefulness of genome-wide and specific molecular cytogenetic techniques to explore apparently balanced rearrangements.


Asunto(s)
Anomalías Múltiples/diagnóstico , Encéfalo/anomalías , Fosa Craneal Posterior/anomalías , Eliminación de Gen , Cardiopatías Congénitas/diagnóstico , Diagnóstico Prenatal/métodos , Telómero , Translocación Genética , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Aborto Inducido , Adulto , Desequilibrio Alélico , Encéfalo/patología , Pintura Cromosómica , Fosa Craneal Posterior/patología , Análisis Citogenético , Femenino , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/patología , Humanos , Cariotipificación , Análisis de Secuencia por Matrices de Oligonucleótidos , Embarazo , Ultrasonografía Prenatal
14.
Prenat Diagn ; 27(3): 222-7, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17238218

RESUMEN

BACKGROUND: Hypophosphatasia is an osseous dysplasia with highly variable clinical expression, ranging from a recessive lethal prenatal type to late onset dominant short stature with premature shedding of teeth. Lethal forms of hypophosphatasia include short limb dwarfism with lack of ossification, especially on the vertebral bodies, very slender ribs and clavicles, and bowed, short lower extremities, with a bifid aspect of the diaphyses. Alkaline phosphatase is abnormally low in liver, bone, kidney and plasma. METHODS: We present here the prenatal images of a lethal form of hypophosphatasia, diagnosed precociously because of specific osseous spurs in a context of recurrent short limb dwarfism. RESULTS: Prenatal 3D ultrasonography has shown these spurs as early as 18 weeks. Molecular biology found compound heterozygous mutations in the gene TNSALP. CONCLUSION: In a context of short limb dwarfism, the search for these specific osseous spurs orient strongly toward the diagnosis of lethal hypophosphatasia.


Asunto(s)
Huesos/anomalías , Hipofosfatasia/diagnóstico por imagen , Ultrasonografía Prenatal , Fosfatasa Alcalina/sangre , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Hipofosfatasia/embriología , Imagenología Tridimensional , Embarazo
15.
Prenat Diagn ; 25(12): 1150-5, 2005 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-16258951

RESUMEN

OBJECTIVES: Deletion of short arm of chromosome 4 is difficult to ascertain prenatally, and can be missed. METHODS: A prenatal suspicion of 4p- syndrome was thoroughly investigated by using two-dimensional and three-dimensional sonography, with a description of the fetal face dysmorphological pattern. The cytogenetic confirmation, obtained by karyotype and FISH technique, allowed a precise description of the prenatal abnormalities. Post-termination tridimensional helicoidal scanner of the fetal face was performed. RESULTS: The main anomaly discovered using two-dimensional sonography was the presence of a strikingly thick prefrontal edema (8 mm, twice the normal values, at 22 weeks: 3.81 +/- 0.62 mm). Three-dimensional sonography showed the classical postnatal profile, with the phenotypic aspect of a 'Greek warrior helmet'. Nasal bones were normal in size and placement, confirmed by helicoidal scanner. CONCLUSION: Prenatal diagnosis of 4p deletion syndrome can be difficult, and it is the presence of prefrontal edema, associated with more subtle facial anomalies (short philtrum, microretrognathia) which should trigger cytogenetic investigation for 4p- deletion, even with only borderline growth retardation.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 4 , Anomalías Craneofaciales/diagnóstico , Edema/etiología , Frente , Adulto , Femenino , Retardo del Crecimiento Fetal/diagnóstico por imagen , Humanos , Hibridación Fluorescente in Situ , Embarazo , Diagnóstico Prenatal , Síndrome , Ultrasonografía Prenatal
16.
Fetal Diagn Ther ; 16(6): 360-3, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11694739

RESUMEN

OBJECTIVE: One of the concerns of prenatal diagnosis is to find sensitive markers to screen for chromosome abnormalities, such as serum assays or nuchal translucency (NT). This study reports our experience with NT measurement during the first trimester of pregnancy. MATERIALS: The study was performed prospectively on 252 fetuses with either NT > or =3 mm or cystic hygroma. RESULTS: We observed 50 abnormal karyotypes, i.e. 19.8%. The incidence of chromosome abnormalities increased with increasing maternal age and increasing NT thickness. For the 202 fetuses with normal karyotypes, outcome was unfavourable in 32 cases: 23 elective terminations of pregnancy, 8 spontaneous abortions and 1 neonatal death. Outcome was favourable in 141 cases. Twenty-nine pregnancies were lost to follow-up. CONCLUSION: Measurement of NT at 12 weeks' gestation seems to be a good marker for chromosome abnormalities. When the karyotype is normal, the pregnancy outcome remains correlated with the degree of NT thickness. The finding of NT >3 mm between 10 and 14 weeks' gestation dictates rigorous ultrasound monitoring and caution when predicting pregnancy outcome.


Asunto(s)
Edad Gestacional , Cuello/embriología , Resultado del Embarazo , Ultrasonografía Prenatal , Adulto , Aberraciones Cromosómicas , Síndrome de Down/diagnóstico por imagen , Síndrome de Down/genética , Femenino , Humanos , Cariotipificación , Linfangioma Quístico/diagnóstico por imagen , Edad Materna , Cuello/diagnóstico por imagen , Embarazo , Primer Trimestre del Embarazo , Pronóstico , Estudios Prospectivos
17.
Eur J Obstet Gynecol Reprod Biol ; 86(1): 105-7, 1999 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-10471151

RESUMEN

We report the case of a fetus with supraventricular tachycardia complicated by congestive heart failure and ascites. After failure of initial transplacental treatment, the injection of amiodarone into the umbilical vein combined with evacuation of ascites achieved conversion to sinus rhythm and restored cardiac function thus allowing pregnancy to go to term. This report suggests that direct fetal therapy by umbilical vein puncture and evacuation of effusions constitutes an effective treatment for supraventricular tachycardias with massive fetal hydrops which do not respond to transplacental treatment.


Asunto(s)
Amiodarona/administración & dosificación , Antiarrítmicos/administración & dosificación , Enfermedades Fetales/tratamiento farmacológico , Hidropesía Fetal/complicaciones , Taquicardia Supraventricular/tratamiento farmacológico , Venas Umbilicales , Adulto , Amiodarona/uso terapéutico , Antiarrítmicos/uso terapéutico , Digoxina/administración & dosificación , Digoxina/uso terapéutico , Femenino , Frecuencia Cardíaca Fetal , Humanos , Inyecciones Intravenosas , Embarazo , Taquicardia Supraventricular/complicaciones
19.
Prenat Diagn ; 15(7): 609-14, 1995 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-8532619

RESUMEN

Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed.


Asunto(s)
Cromosomas Humanos Par 9 , Diagnóstico Prenatal , Trisomía/diagnóstico , Adulto , Femenino , Asesoramiento Genético , Humanos , Cariotipificación , Embarazo
20.
Fetal Diagn Ther ; 9(4): 246-51, 1994.
Artículo en Inglés | MEDLINE | ID: mdl-7945905

RESUMEN

During a 4-year period, 29 fetal nuchal edemas were observed, associated with other ultrasound abnormalities in 7 cases (24%). Fetal karyotypes were abnormal in 10 cases: 6 trisomy 21; 3 trisomy 18, and 1 Turner's syndrome. Isolated fetal nuchal edema was associated with aneuploidy in 4 cases: 3 trisomy 21, and 1 trisomy 18. The average age of the women carrying a fetus with nuchal edema associated or not with a trisomy 21 was 38.3 and 30.8 years, respectively. These results are similar to those found in the literature. It would appear that maternal age is a better marker in trisomy 21 screening than isolated fetal nuchal edema.


Asunto(s)
Edema/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen , Cuello , Ultrasonografía Prenatal , Adolescente , Adulto , Aneuploidia , Aberraciones Cromosómicas , Edema/genética , Femenino , Enfermedades Fetales/genética , Humanos , Cariotipificación , Embarazo , Trisomía , Síndrome de Turner
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