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PubMed2002

[Incidence some congenital defects in Monterrey, Mexico].

OBJECTIVE: In Mexico, the congenital defects (CD) in newborns represent the third cause of infant morbi-mortality. Incidence rates/1000 reported for our country vary from 8.15 (Puebla) to 32.90 (Distrito Federal). The aim of this study was to estimate the incidence of some CD in Monterrey, Mexico. METHOD: A transversal, prospective, descriptive, and observational study was carried out at the Hospital de Ginecologia y Obstetricia No. 23, IMSS during January 1995 to December 1999. The external CD were analyzed according to World Health Organization (WHO) and classified according to their topography distribution. RESULTS: A total incidence of 9.89 [(1309/132,369)* 1000)] was detected. The more frequent CD were: the nervous system (2.33), the chromosomal (1.67), osteomuscular (1.67) of face and neck (1.18), and reproductive system (0.81). The less frequent CD were: the digestive system (0.43), diverse syndromes (0.38), and skin (0.29). CONCLUSION: Even though the global incidence of DC observed in this study is into the rank informed in the national and international literature. Because of this incidence has a great variability, we considered important to homogenize diagnosis criteria for each DC. With this results it will be possible to carry out comparative cross-sectional studies to determine if they are similar or different and then, by association studies to establish its possible etiological factors.

Congenital Abnormalities↗
PubMed1993

Thoracoscopic resection of pericardium for symptomatic congenital pericardial defect.

Congenital defects of the pericardium are rare. Surgical treatment is recommended to relieve symptoms and to prevent cardiac herniation and strangulation. The case of a symptomatic pericardial defect due to a dynamic obstruction of the coronary arteries is described. The diagnosis was suggested by plain chest film, echocardiography, and cardiac catheterization. Confirmation and successful surgical management were accomplished by video-assisted thoracoscopic pericardiectomy.

Adult↗
PubMed1982

Conservative management of congenital defect of skull and scalp.

A case of congenital defect of the scalp and skull, treated conservatively with success, is reported. The defect of the scalp healed rapidly and the underlying osseous defect closed within eight months. The course of obliteration of the osseous defect was followed using radiological methods.

Bone Diseases↗
PubMed1994

Perioperative management of pulmonary circulation in children with congenital cardiac defects.

Congenital cardiac defects and the clinical symptoms they exhibit are affected intimately by the relation they have with pulmonary circulation. Cardiac lesions that increase pulmonary blood flow often occur clinically with signs and symptoms of congestive heart failure, including hepatomegaly, tachycardia, diaphoresis, and feeding difficulties. However, in the neonatal period, pulmonary vascular resistance often remains elevated, decreasing the pulmonary blood flow and, therefore, severity of symptoms. Cardiac lesions that reduce pulmonary blood flow often manifest early in life with clinical signs and symptoms of cyanosis, tachypnea, and acidosis. Finally, cardiac lesions that result in isolated pulmonary blood flow manifest immediately in the neonatal period, with profound cyanosis and acidosis. In all three groups of cardiac anomalies, critical care nurses play a key role in the control of pulmonary vascular resistance and blood flow by collaborating in therapies designed to increase, decrease, or promote mixing to reduce morbidity and mortality.

Critical Care↗
PubMed1987

Congenital defect of posterior elements of the axis.

A congenital defect of the posterior elements (spinous process and vertebral arch) of the axis was observed in a 20-year-old man. This anomaly was detected by coincidence during roentgenographic study of the cervical spine for the investigation of headaches and neck pain following trauma. The clinical symptoms were relieved by conservative therapy, and the patient returned to a normal life.

Adult↗
PubMed1993

Epidemiology, etiology and pathogenesis of congenital heart defects.

Congenital heart defects (CHD) are a frequent cause of death and disability and cause a significant toll in terms of personal distress and social costs. The only satisfactory way of reducing this burden is through primary prevention, which in turn can be implemented only when the cause and mechanism of these defects is known. While current knowledge on the impact on the population and on the etiology and pathogenesis of CHD is still largely unsatisfactory, some progress has been made in recent times and promising research is currently being performed; these topics are discussed in this paper, with special emphasis on quantitative risk assessment of putative cardiac teratogens.

Chromosome Aberrations↗
PubMed1988

[Clinical aspects and genetics of congenital skin defects].

Congenital skin defects are uncommon anomalies in neonates, confronting the clinician with diagnostic problems because of their etiologic heterogeneity. The classifications currently in use are didactically unsatisfactory. Therefore, we propose a new classification taking account of the localization of the congenital skin defect (head, trunk, extremities) and the criterion of isolated or associated occurrence. The groups clinically defined in this way, tables showing the pathognomonic symptoms and, in addition, a short review of all syndromes involving congenital skin defects should allow a rapid diagnosis. Clinical and genetic features of the isolated congenital skin defects are also reviewed.

Abnormalities, Multiple↗
PubMed2006

[Effect of flour folic acid fortification on the incidence of cranio encephalic congenital defects].

BACKGROUND: In Chile, flour is fortified with folic acid since 2000, and the incidence of neural tube defects has decreased. Cranio-encephalic congenital defects (CECD) have a wider clinical scope, includind classical neural tube defects (NTD) such as anencephalia and acrania, but also incorporating other defects. Therefore, the effects of folic acid fortification on the incidence of CECD could be different. AIM: To study the effect of folic acid fortification on the incidence of CECD. MATERIAL AND METHODS: All prenatal diagnoses of CECD and cases registered locally in the Latin American Collaborative Study of Congenital Malformations (ECLAMC) were reviewed. The obtained data were crossed with all death certificates of newborns or stillborns of more than 500 g in the Sixth Region, in Central Chile. All cases were classified again in four subtypes, according to their phenotype. The incidences of all subtypes prior (1996-2000) and after folic acid supplementation (2001-2004), were compared. RESULTS: Between 1996 and 2004, there were 64 cases of CEDC among 109,176 infants born alive. The global rate was 8.86 per 10,000 born alive in the period prior to fortification and 3.03 per 10,000 born alive after fortification. Comparing both periods, there was a 66% reduction in all CECD and a 77 and 100% reduction in subtypes A and B of CECD, respectively (p <0.05). No significant reductions in type C and D CECD, were observed. CONCLUSIONS: After the start of flour folic acid fortification, there was a global reduction in the incidence of CECD. However, only types A and B CECD, supposedly more responsive to folic acid, were reduced.

Anencephaly↗
PubMed1979

Congenital abnormalities and Perthes' disease. Clinical evidence that children with Perthes' disease may have a major congenital defect.

This paper reports a high incidence of minor congenital anomalies in boys and girls with Perthes' disease compared with that in a control population. There is a similarity of the incidence of minor anomalies in the children with Perthes' disease to that in babies with a single major congenital defect. Multiple major defects were more numerous and more severe than in the control children. It is speculated that there may be a congenital abnormality affecting skeletal development which in some way makes the hip susceptible to Perthes' disease at a later date.

Abnormalities, Multiple↗
PubMed1998

Recent progress in the molecular genetics of congenital heart defects.

Congenital heart defects (CHD) constitute the single most common anatomic class of birth defects and are a major cause of infant mortality. Correlation of normal and pathological embryology/anatomy has led to the formulation of mechanistic models, but there is limited understanding of the genetic basis for the inferred embryological processes. Most evidence points to extensive etiologic heterogeneity and a re-evaluation of simple multifactorial models is required. The recent identification of several genes responsible for congenital heart defects in the context of more complex clinical disorders provides significant entry points for the genetic analysis of human heart development. The association of aneusomies (particularly microdeletion syndromes) with specific cardiac lesions provides further strong support for mechanistic classification. Studies in the mouse are laying the groundwork for a comprehensive genetic model of cardiac organogenesis. Nevertheless, the basis for the large majority of CHD, especially isolated defects, remains obscure. Dissection of the genetic components of CHD is one of the greatest challenges in medical genetics for the coming decades.

Animals↗
PubMed1992

Congenital defects and electric bed heating in New York State: a register-based case-control study.

Exposure to 60-cycle electromagnetic fields has been hypothesized to be a cause of childhood cancer and congenital defects. Because electric bed heaters are a major source of variation in electromagnetic field exposure in the population, the authors conducted a case-control study in 1988-1989 to examine the relations between congenital defects and the use of electric blankets and heated waterbeds. Cases were identified by the New York State Congenital Malformations Registry as babies with cleft palate (n = 121), cleft lip with or without cleft palate (n = 197), born in 1983-1984, and anencephalus and spina bifida (n = 224), born in 1983-1986, all to upstate New York residents. Controls were selected at random from birth registrations individually matched to cases by maternal race, age, home county, month of last menses, and child's sex. Information on periconceptional electric blanket and heated waterbed use as well as known and suspected risk factors for defects was obtained from questionnaires mailed to the mothers. Matched odds ratio estimates and 95% confidence intervals (CIs) for electric blanket use relative to nonuse were 0.8 (95% CI 0.3-2.1) for cleft palate, 0.7 (95% CI 0.3-1.3) for cleft lip, and 0.9 (95% CI 0.5-1.6) for neural tube defects. The respective odds ratios for heated waterbed use were nearly identical to these. Adjustment for potential confounding factors (maternal education, vitamin use, smoking) and stratification by season of conception and bed heat control setting had no meaningful effect on odds ratios. These results suggest that 60-cycle fields do not cause neural tube and oral cleft defects.

Adult↗
PubMed1982

Effectiveness of routine ultrasound in screening congenital defects.

During one year 26 cases of fetal malformations were diagnosed by means of ultrasound alone at the 1st Department of Obstetrics and Gynaecology of the University of Milano. Frequency of congenital defects first detected in the Centre was 5.6% which can be estimated to be approx. 25% of the anomalies detectable at birth in an unselected population. The total number of congenital defects detected was 31. A wrong diagnosis was done in two suspected cephaloceles resulted to be a cystic hygroma of the neck and a nuchal cephaloematoma while a pleural effusion was misdiagnosed as a thoracic cyst. On the other hand a precise evaluation of diagnostic errors (false negatives) has not been possible. Most malformations not detected by scanning involved splanchnic organs rather than central nervous system (Tab. V). Ultrasonic procedures for measurement of fetal head and trunk could partly account for this result. Termination of pregnancy was performed in 4 cases and post-partum surgical correction in 3 (Tab. I). Antenatal diagnosis of fetal malformations should be then considered as a major end-point of routine US.

Amniotic Fluid↗
PubMed1991

The role of drugs, particularly oral contraceptives, in triggering thrombosis in congenital defects of coagulation inhibitors: a study of six patients.

It is well established that pregnancy and puerperium, surgery and trauma may often trigger thrombotic events even in the normal population. On the other hand, patients with congenital deficiency of clotting inhibitors may develop spontaneous thrombotic episodes, although they become often symptomatic when one of the above-mentioned triggering factors is present. We found this to be true in 40 out of 81 symptomatic patients with congenital defects of coagulation inhibitors. In six (15%) of these cases medications (mainly oral contraceptives) triggered the thrombotic event. The incidence of pharmacological factors as a cause of thrombosis is commonly maintained to be low. This study indicates that this is not so and underlines the potential importance of drugs, particularly oral contraceptives, in the pathogenesis of thrombotic events in patients with congenital defects of clotting inhibitors.

Adult↗
PubMed2003

[Role of prenatal diagnosis in decreasing the incidence of congenital defects in the Czech Republic].

OBJECTIVE: An analysis of prenatal diagnostics of congenital malformations in the year 2002 and an analysis of the proportion of prenatal diagnostics in the total incidence of congenital malformations in the Czech Republic in the years 1994-2002. DESIGN: A retrospective study. SETTING: Department of Medical Genetics, Faculty Thomayer Hospital, Prague. MATERIALS AND METHODS: The data were obtained from Dept. of Medical Genetics wards (28 departments)--congenital malformations were detected during prenatal diagnostics, and other data were obtained from the Institute of Medical Information and Statistics of the Czech Republic, the National Registry of Inborn Defects--Congenital Malformations in Newborns. From the available material the authors selected six types of congenital malformations (anencephaly, spina bifida, omphalocoele, gastroschisis, renal agenesis/hypoplasia, Down syndrome) for a more detailed analysis. RESULTS: In the period of 1994-2002 a total of 3,621 pregnancies with congenital malformations were detected and terminated and 1,351 fetuses were prenatally diagnosed, but the pregnancy was not terminated. The prenatal detection of inborn errors is gradually increasing. A detailed analysis of prenatal diagnostics in 2002 indicated that chromosomal aberrations were diagnosed most frequently (307 cases), of which Down syndrome was most frequent (108 cases). The next most frequent defects were those of urinary tract (agenesis or renal hypoplasia 13 times, kidney cystosis 25 times, hydronephrosis 31 times, other congenital malformations 10 times), congenital heart malformations (dealt with in another presentation), defects of neural tube (anencephaly 18 times, encephalocoele 6 times, spina bifida 22 times), congenital malformations of skeletal and muscular system (46 times) and defects of abdominal wall (omphalocoele 10 times, gastoschisis 25 times). A detailed analysis of six types of congenital malformations revealed that prenatal detection of congenital malformations increases with time and prenatal diagnostics significantly participates in the total detection of congenital malformations. The percentage of prematurely terminated pregnancies from the total number of diagnosed malformations is almost 100% in anencephaly, 50-60% in spina bifida, 50-60% in omphalocoele, 70-90% in gastroschisis, 20-30% in renal agenesis/hypoplasia and 60-70% in Down syndrome. CONCLUSION: In the period of observation there were increasing numbers of prenatally diagnosed congenital malformations. A difference develops between the total number of prenatally diagnosed cases and those diagnosed prenatally and terminated. There is an increasing number of non-terminated cases (decision of the pregnant woman, multiple pregnancies, late detection of the congenital malformations). The efficiency of prenatal diagnosis in the observed period was in the range of 50-100% in relation to the type and severity of the congenital malformations.

Abortion, Eugenic↗
PubMedDate not supplied

Congenital defects and miscarriages among New Zealand 2, 4, 5-T sprayers.

A survey was conducted of professional New Zealand 2, 4, 5-T sprayers and a comparison group of agricultural contractors with a total of 989 respondents. The numbers of births, congenital defects, and miscarriages were identified from 1969 to 1980 by a postal questionnaire. Each pregnancy outcome was classified according to whether or not the father sprayed 2,4,5-T during the year of the pregnancy outcome, or the previous year. The relative risk estimates of 1.19 for congenital defects, and 0.89 for miscarriages, were not statistically significant. These results are reassuring as far as male professional 2,4,5-T sprayers are concerned. In addition, the extent of exposure of their wives from helping with spray activities, and from washing contaminated clothes, has not had a detectable reproductive effect.

2,4,5-Trichlorophenoxyacetic Acid↗