Search results for "congenital abnormalitie"

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malfor…

2021

Abstract Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of c…

Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.

2015

Background: Pregnant women with asthma need to take medication during pregnancy.Objective: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy.Methods: We performed a population-based case-malformed control study testing signals identified in a literature review. Odds ratios (ORs) of exposure to the main groups of asthma medication were calculated for each of the 10 signal anomalies compared with registrations with nonchromosomal, nonsignal anomalies as control registrations. In addition, exploratory analyses were done for each nonsignal anomaly. The data set included 76,249 reg…

Newborns with an impairment: discourses of hospital staff.

2007

The birth of a baby with an impairment goes against dominant cultural ideals about a happy event. Therefore, the interaction between professionals and parents is particularly important, from the hospital maternity ward to the home. In this article, the author examines both the representations of neonatal impairments constructed by professionals and the consequent subject positions for these babies with impairments. The study is based on interview data collected among 19 staff members of one Finnish county hospital. The author analyzed the data by means of qualitative discourse analysis and concludes that it would be important for health care professionals to provide many-sided elements for…

Fever in pregnancy and congenital anomalies.

1979

Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998).

2002

Prevalence rates of birth defects in the Federal Republic of Germany are informative to assess the general background risk of having a child with a birth defect. They provide basic figures to determine temporal and regional prevalence trends, to evaluate and initiate preventive measures and to initiate research projects. To avoid observer, definition and collection bias, active monitoring systems are required. Data collected in the active monitoring system of the Mainz Birth Defects Registry are presented. From 1990-1998, 30,940 live-births, stillbirths and abortions underwent standardized physical and sonographic examinations. Anamnestic data were collected from prenatal care records, mate…

Congenital malformations.

2012

Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%. Both genetic and environmental factors, as well as their combination in a multifactorial contest, may induce congenital defects. Congenital malformations may be classi- fied on the basis of clinical, etiologic as well as pathogenetic criteria. Relevant diagnostic and therapeutic tools have been progressively improving in the last decades, contributing to a better identification and a reduction of long-term morbidity and mortality of these patients. A correct identification of a congen- ita…

Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the αA-crystallin promoter

2007

Purpose During growth of the embryonic eye, dose- and site-specific expression of heparin-binding growth factors is critical for the formation of an appropriate vascular supply. Overexpression of vascular endothelial growth factor-A188 (VEGF-A188), a strongly heparin-binding, endothelial-specific mitogen, leads to severe disturbance of vascular and overall ocular morphology. This study aimed to evaluate the effects of VEGF-A188 overexpression on growth of ocular tissue components. Methods Stereological and immunohistochemical methods were employed to identify the vascular profiles, ocular tissue proportions, and cell types in VEGF-A188 transgenic mice and compare them with wild-type mice. R…

Three-dimensional ultrasonography in prenatal diagnosis

1995

Within the past five years, 3D ultrasonography has developed to the degree that it offers both the patient and the examiner an entirely new visual experience in prenatal diagnosis. With the system described here (Kretz-technik, Austria), any desired plane can be displayed within the stored volume, and within seconds a high-quality 3D surface or transparent image can be calculated and displayed on the ultrasound monitor without need for an external workstation. All of this can be performed routinely in the clinical setting. Since 1989 we have routinely examined a total of 458 fetuses (242 normal and 216 with anomalies) between 16 and 38 weeks of gestation, supplementing our conventional 2D u…

DOUBLE TRANSVERSE FORAMEN IN INFANTILE CERVICAL VERTEBRAE OF THE LATE 17TH AND EARLY 18TH CENTURIES. Doble foramen transverso en las vértebras infant…

2016

La presencia de doble foramen transverso es una variante anatómica que se observa con frecuencia en el raquis cervical inferior y que presenta implicaciones clínicas en relación con la arteria vertebral. Aunque en la actualidad existe cierta controversia acerca de si el origen de esta variante cervical es congénito o adquirido, y a pesar de que la presencia de doble foramen transverso en población infantil descartaría un origen degenerativo-artrósico, se encuentra una falta de información acerca de su presencia en vértebras cervicales infantiles. En este sentido, nuestro objetivo ha sido analizar la presencia de doble foramen transverso en vértebras cervicales infantiles procedentes de rest…

Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

1998

A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a pe…