RESUMO
The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.
Assuntos
Hospitais Universitários/organização & administração , Cuidado Pré-Natal/organização & administração , Diagnóstico Pré-Natal , Aborto Habitual/epidemiologia , Aborto Habitual/genética , Biomarcadores , Aberrações Cromossômicas/diagnóstico , Aberrações Cromossômicas/embriologia , Aberrações Cromossômicas/epidemiologia , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/embriologia , Anormalidades Congênitas/epidemiologia , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/epidemiologia , Aconselhamento Genético , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/embriologia , Doenças Genéticas Inatas/epidemiologia , Departamentos Hospitalares , Hospitais Universitários/estatística & dados numéricos , Humanos , Recém-Nascido , Masculino , Idade Materna , Gravidez , Gravidez de Alto Risco , Cuidado Pré-Natal/estatística & dados numéricos , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Venezuela/epidemiologia , alfa-Fetoproteínas/análiseRESUMO
Incontinentia Pigmenti is a rare X-linked multisystem neuroectodermic disorder with signs and symptonms related mainly to the dermatologic, dental, ocular and central nervous systems, and characterized by death in the majority of male embryos. Affected children do not appear sick, in spite of the skin eruption, the peripheral leucocytosis and marked eosinophilia. Most of the cases are reported in caucasians, although there are description in black children, orientals, north, central and south american indians, and in our mestizos. The name of Incontinentia Pigmeti describes the incontinence of the melain pigment from the basal layer of the epidemermis into the superficial dermis
Assuntos
Criança , Humanos , Feminino , Recém-Nascido , Incontinência Pigmentar/embriologia , Incontinência Pigmentar/etiologia , Incontinência Pigmentar/mortalidade , Doenças Genéticas Inatas/embriologia , Doenças Genéticas Inatas/genéticaRESUMO
Se examinaron histopatologicamente 318 placentas, de las cuales 19 (6.3%) fueron positivas a T. cruzi. Despues de establecer un promedio de normalidad en meses lunares de gestacion, observaron que las placentas positivas a T. cruzi tienen un aumento de peso sobre todo en el 6to. y 7mo. mes lugar probablemente por edema. La presencia del parasito en cantidad aumentada sobre todo en el estroma y epitelio del amnios, y el cordon; ademas de la relacion con el edema nos permite pensar que la transmision se produciria a traves de las menbranas extraembrionaria. Se concluye que estas observaciones pueden dar un enfoque nuevo en el mecanismo de transmision.