RESUMO
BACKGROUND: CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. Diagnostic criteria have been proposed to improve diagnosis in fetuses at clinicopathological survey, but no criteria exist for fetal diagnosis during pregnancy. METHOD: We collected prenatal findings of 12 children with CHARGE syndrome diagnosed in the first 3 months and a CHD7 mutation. We retrieved data on prenatal ultrasound (US) follow-up, fetal supplementary investigations, and results of postnatal evaluation. RESULT: Seven pregnancies were complicated by the identification of isolated or multiple congenital anomalies. CHARGE syndrome was suspected in three fetuses but could not be confirmed despite additional examinations. Retrospectively, several postnatal findings could have been seen if they had been specifically searched. Intrauterine growth restriction, previously proposed as an exclusion criterion, complicated two pregnancies and is thus compatible with the diagnosis. CONCLUSION: Diagnosis of CHARGE syndrome remains difficult during pregnancy. If the diagnosis of CHARGE syndrome is raised in utero, we suggest a careful US examination to identify typical external ears, choanal atresia, or microphthalmia. Fetal brain magnetic resonance imaging can be helpful, but a normal result does not exclude the diagnosis. When CHARGE syndrome is highly suspected, CHD7 molecular analysis must be proposed to confirm the diagnosis. © 2016 John Wiley & Sons, Ltd.
Assuntos
Síndrome CHARGE/diagnóstico por imagem , Ventrículos Cerebrais/anormalidades , Ventrículos Cerebrais/diagnóstico por imagem , Fenda Labial/diagnóstico por imagem , Anormalidades Craniofaciais/diagnóstico por imagem , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Orelha Externa/anormalidades , Orelha Externa/diagnóstico por imagem , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Defeitos dos Septos Cardíacos/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Rim , Masculino , Fenótipo , Poli-Hidrâmnios/diagnóstico por imagem , Gravidez , Estudos Retrospectivos , Timo/anormalidades , Timo/diagnóstico por imagem , Ultrassonografia Pré-Natal , Ureter/anormalidades , Ureter/diagnóstico por imagem , Anormalidades Urogenitais/diagnóstico por imagemRESUMO
High prevalence of overweight (45%) and obesity (30%) were recorded in French Hajj pilgrims originating from North Africa. Females were significantly more likely to suffer from obesity compared to males. The overall prevalence of obesity among French pilgrims born in North-Africa was twice that of the overall French population. The prevalence of obesity in pilgrims aged 55-64 years and 65 years and over were respectively 38 and 25% compared to 20 and 18% in the corresponding overall French population age classes. The prevalence of diabetes in French pilgrims was five times higher compared to that of the overall French population. This situation prompts us to organize in the next future, pre-Hajj education seminars for diabetics.
Assuntos
Islamismo , Obesidade/epidemiologia , Sobrepeso/epidemiologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Índice de Massa Corporal , Diabetes Mellitus/epidemiologia , Feminino , França/epidemiologia , Humanos , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Fatores Sexuais , Viagem/estatística & dados numéricos , Adulto JovemRESUMO
Sixty-seven percent of French pilgrims reported to have traveled out of France just before the 2010 Hajj (mainly in North Africa) and 26% planned to do so after leaving Saudi Arabia. Surveillance of Hajj-associated infectious diseases in returned French pilgrims should be coordinated between France and North African countries.
