Asunto(s)
Ultrasonografía Prenatal , Sistema Urinario/anomalías , Diagnóstico Diferencial , Dilatación Patológica , Femenino , Humanos , Pelvis Renal/anomalías , Masculino , Enfermedades Renales Poliquísticas/diagnóstico , Embarazo , Factores Sexuales , Obstrucción Uretral/diagnóstico , Reflujo Vesicoureteral/diagnósticoRESUMEN
Wolman's disease is a rare autosomal recessive disease due to lysosomal acid lipase complete deficiency (McKusick 27.800). Prenatal diagnosis is based on safe chorionic villus sampling procedures. We test acid lipase activity in cultured chorionic villus cells, selected from a biopsy performed during the 8th week of pregnancy. We now report the first prenatal diagnosis of heterozygosity for Wolman's disease during the first trimester of pregnancy. Reduced acid lipase activity was shown in the chorionic villi cells using a natural substrate (Cholesterol 14C oleate). The diagnosis was confirmed by the demonstration of reduced acid lipase activity in cultured amniotic cells and in the newborn lymphocytes. Early prenatal diagnosis in pregnancies at risk for lysosomal storage diseases is possible when enzyme activity levels in chorionic villi are similar to those in cultured amniotic cells and in infant cells.
Asunto(s)
Tamización de Portadores Genéticos , Diagnóstico Prenatal , Enfermedad de Wolman/genética , Vellosidades Coriónicas/enzimología , Femenino , Humanos , Recién Nacido , Lipasa/metabolismo , Linfocitos/enzimología , Embarazo , Primer Trimestre del Embarazo , Factores de RiesgoAsunto(s)
Diagnóstico Prenatal , Enfermedad de Wolman/diagnóstico , Líquido Amniótico/citología , Radioisótopos de Carbono , Muestra de la Vellosidad Coriónica , Femenino , Humanos , Lactante , Lipasa/deficiencia , Lipasa/metabolismo , Embarazo , Primer Trimestre del Embarazo , Técnica de Dilución de Radioisótopos , Valores de ReferenciaRESUMEN
A case of fetal pleural effusion detected by ultrasound at 33 weeks of gestation is described.
Asunto(s)
Derrame Pleural/congénito , Diagnóstico Prenatal , Terapéutica , Ultrasonografía , Adulto , Parto Obstétrico/métodos , Femenino , Humanos , Mortalidad , Derrame Pleural/diagnóstico , Derrame Pleural/terapia , Atención Posnatal , Embarazo , Resultado del EmbarazoAsunto(s)
Metrorragia/diagnóstico , Complicaciones del Embarazo/diagnóstico , Ultrasonografía , Aborto Retenido/diagnóstico , Femenino , Humanos , Metrorragia/etiología , Embarazo , Complicaciones Neoplásicas del Embarazo/diagnóstico , Primer Trimestre del Embarazo , Neoplasias Trofoblásticas/diagnóstico , Neoplasias Uterinas/diagnóstico , Útero/anomalíasAsunto(s)
Defectos del Tubo Neural/diagnóstico , Diagnóstico Prenatal , Ultrasonografía , Anencefalia/diagnóstico , Aberraciones Cromosómicas/diagnóstico , Trastornos de los Cromosomas , Cromosomas Humanos 13-15 , Encefalocele/diagnóstico , Femenino , Humanos , Hidrocefalia/diagnóstico , Microcefalia/diagnóstico , Embarazo , Espina Bífida Oculta/diagnósticoRESUMEN
Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.
Asunto(s)
Asesoramiento Genético , Linfangioma/diagnóstico , Diagnóstico Prenatal , Ultrasonografía , Adulto , Femenino , Feto/patología , Humanos , Recién Nacido , Cariotipificación , Linfangioma/genética , Linfangioma/patología , Masculino , Embarazo , Embarazo Múltiple , GemelosAsunto(s)
Líquido Amniótico/metabolismo , Prolactina/metabolismo , Femenino , Sangre Fetal/metabolismo , Feto , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido Pequeño para la Edad Gestacional , Masculino , Hipófisis/metabolismo , Embarazo , Prolactina/sangre , Gemelos Dicigóticos , Gemelos MonocigóticosRESUMEN
The TSH and PRL responses to administration of the two dopamine (DA) receptor antagonists sulpiride and domperidone, were studied in fifteen normoprolactinaemic subjects, twenty-two post-partum women and sixteen subjects with presumptive evidence of (six subjects) or surgically confirmed (ten subjects) prolactinomas. Sulpiride (100 mg i.m.) or domperidone (10 mg i.v.) elicited a slight increase in basal TSH levels in both normoprolactinaemic and post-partum women, but induced a clear-cut TSH rise in subjects with a tumour. Conversely, sulpiride and domperidone strikingly stimulated PRL secretion in normoprolactinaemic and post-partum women, but only slightly enhanced base-line PRL levels in women with prolactinomas. The reason for the reciprocal pattern of TSH and PRL responsiveness to DA receptor blockade of post-partum women and subjects with prolactinomas is presently obscure. Since baseline PRL levels in the two hyperprolactinaemic states overlapped widely, it would appear that hyperprolactinaemia per se is not responsible for such behaviour.