PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “congenital abnormalities”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed1981

Congenital hand anomalies, and their association with other congenital abnormalities.

Congenital abnormalities of other parts occurring in patients with congenital abnormalities of the hand were studied. Hands and feet often showed similar anomalies, but there were cases in which the hands and feet had different kinds of deformity. Anomalies of the internal organs were associated with anomalies of the thumb. Cleft lip and palate occurred in combination with syndactyly, split hand, preaxial polydactyly and construction ring syndrome. Combined anomalies may be the result of a genetic or environmental factor interfering with parts developing during the same critical period. The critical period and probable pathogenesis are discussed and the conclusion reached that mesenchymal necrosis, abnormal distribution of mesenchyme and tissue necrosis after mesenchymal condensation may be the pathological changes which lead to abnormal development of the hand.

Abnormalities, Multiple↗
PubMed1997

First 25 years of the Hungarian congenital abnormality registry.

The Hungarian Congenital Abnormality Registry was established in 1962 based on obligatory notification of cases with congenital abnormalities by physicians. However, continuous and expert evaluation of data started in 1970 when the Registry was moved to the National Institute of Public Health. Later several other systems, including the Nationwide Evaluation of Multimalformed Infants, Case-Control Surveillance of Congenital Abnormalities, and Surveillance of Germinal Mutations, were based on the Registry. Data and results of the first 25 years of the Registry are evaluated from three different aspects: 1) evaluation of the originally planned and later adopted missions of the Registry; 2) quality control of the Registry is based on the proportion of misdiagnoses, completeness of notifications, and pathogenetically oriented classification; 3) outcome evaluation indicated the different quality of recorded data in lethal, severe, and mild congenital abnormalities. The data base of the Registry was appropriate to estimate the proportion of preventable congenital abnormalities due to the four different preventive programs and to evaluate the pregnancy outcomes after the Chernobyl nuclear power plant accident.

Congenital Abnormalities↗
PubMed1980

Abnormal fetal heart rate associated with congenital abnormalities.

The fetal heart rate (FHR) records obtained from 3140 patients were reviewed. Thirty-seven patients gave birth to an infant with a major congenital abnormality. Fifty-one per cent of this group demonstrated an abnormal FHR in the antepartum or intrapartum period. The Caesarean Section rate was 48 per cent and perinatal mortality was 50 per cent. In patients with an abnormal antepartum FHR record, an underlying congenital abnormality of the fetus should be considered.

Congenital Abnormalities↗
PubMed1981

Congenital abnormal fibrinogens.

Congenital and hereditary abnormal fibrinogen is the most common of the inherited disorders of fibrinogen. There is no uniform clinical pattern which characterizes the disease and the diagnosis is evoked on the results of laboratory tests which show an abnormal conversion of fibrinogen to fibrin. This abnormality should be confirmed on the purified defective fibrinogen. Characterization of the abnormality includes physical, immunological, functional and structural analyses. Studies related to fibrinogen behavior upon plasmin digestion and those related to polymerization also provide useful information. Recognition of the specific nature of the molecular defect is dependent on molecular analysis. A single distinctive amino acid substitution is currently recognized for Fibrinogen Detroit, Lille and München.

Blood Coagulation Disorders↗
PubMed1981

Classification and registration of multiple congenital abnormalities.

The data processing of multiple congenital abnormalities is demonstrated in the Hungarian Surveillance of Congenital Anomalies. Specified dysmorphic syndromes and CA-associations are registered on the basis of notification. Unspecified multiple congenital abnormalities are evaluated on the basis of notified abnormalities. First, a distance-diagnosis is being tried concerning some specified dysmorphic syndromes and CA-associations. Second, the alive babies with unspecified multiple abnormalities are referred to the regional multiple abnormality centre while a detailed post-mortem description is requested from the stillborns and infant deaths with multiple abnormalities. Third, the remaining unspecified congenital abnormalities are divided into 4 categories (obvious, important, dubious and minor) and into 40 groups. Babies with two abnormalities are annually compiled in one table. Babies with three abnormalities are summarized according to the so-called "cardinal" abnormalities in different tables. Finally, babies with four or more abnormalities are listed one by one with regard to the leading abnormality in another table. This classification system helps - among other - to recognize known and new syndromes and CA-associations, as well as to monitor a cluster of specific combinations of congenital abnormalities.

Abnormalities, Multiple↗
PubMed1986

A multidimensional threshold model for multiple congenital abnormalities.

Analysis of the data of 2.762 infants with "unidentified" (i.e., no identified as dysmorphological entities) multiple congenital abnormalities from the Hungarian Congenital Malformation Registry, 1970-1976 showed that the majority of congenital abnormalities in newborns with multiple congenital abnormalities was not due to random combinations. The ratio of expected random combination and observed causal effect was 1: 6, 1: 225-1: 14,000 and 1: 2.10(6) in two, three, four, and five or more congenital abnormalities, respectively. Our multidimensional threshold model supposes specified liabilities for each congenital abnormality, and the correlation structure of these liabilities explains nearly all associations of congenital abnormalities in unidentified multiple congenital abnormalities. According to this hypothesis, the expected and the observed occurrences do not differ significantly either in the sum or in the various possible threefold associations of congenital abnormalities. The biological reasons for the phenomenon are being studied.

Abnormalities, Multiple↗
PubMed2001

Description and mission evaluation of the Hungarian case-control surveillance of congenital abnormalities, 1980-1996.

BACKGROUND: The Hungarian Case-Control Surveillance of Congenital Abnormalities was established in 1980. This article describes how the Hungarian Case-Control Surveillance of Congenital Abnormalities was first organized and is currently maintained. The baseline statistics are provided and potential venues of postmarketing surveillance of drug teratogenicity and other public health tasks and research are proposed. METHODS: Cases with congenital abnormalities and patient controls with Down syndrome were selected from the Hungarian Congenital Abnormality Registry. Population controls without congenital abnormalities were selected from the National Birth Registry on the basis of three matching criteria: sex, week of birth, and district of parent's residence. Three sources of information concerning drug exposures, maternal disorders, and pregnancy complications, among others, were used: (1) prospective and medically recorded data from antenatal care logbooks and discharge summaries; (2) retrospective maternal self-reported data obtained with a structured questionnaire in all the three study groups; and (3) data collected by regional nurse in house visits to nonrespondent cases and patient controls. Twenty-five congenital abnormality groups were evaluated. During the 17-year period of data collection, 22,843 cases, 38,151 population controls, and 834 patient controls were incorporated into the data set, constituting the largest population-based case-control data set of congenital abnormalities to date. RESULTS: Demographic features of pregnant women and informative offspring are presented along with the distribution of 25 main groups of congenital abnormalities. CONCLUSIONS: This system is appropriate for postmarketing the surveillance of drug teratogenicity, for the improvement of congenital abnormality diagnosis, to get informed consent, to have a communication with parents and to provide material for research.

Abnormalities, Drug-Induced↗
PubMed1981

Definition of multiple congenital abnormalities.

The recommended definition of multiple congenital abnormalities is "a concurrence of (1) two or more (2) different (i.e. different localized errors in morphogenesis) (3) major congenital abnormalities in the same person". The baseline data of multiple congenital abnormalities in the Surveillance of the Hungarian Congenital Anomalies, 1970-1976, are shown.

Abnormalities, Multiple↗
PubMed1993

What proportion of congenital abnormalities can be prevented?

OBJECTIVE: To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN: Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING: Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES: Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS: Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION: Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention.

Abnormalities, Multiple↗
PubMed1991

Incidence of legal abortions and congenital abnormalities in Hungary.

The annual and monthly distributions of congenital abnormalities and pregnancy outcomes as confounding factors were evaluated in Hungary in reflection of the accident at the Chernobyl reactor. The different congenital abnormality entities and the components of fetal radiation syndrome did not show a higher rate after the Chernobyl accident in the data-set of the Hungarian Congenital Abnormality Registry. Among confounding factors, the rate of induced abortions did not increase after the Chernobyl accident in Hungary. In the 9th month after the peak of public concern (May and June, 1986) the rate of livebirths decreased. Three indicator conditions: 15 sentinel anomalies as indicators of germinal dominant gene mutations, Down syndrome as an indicator of germinal numerical and structural chromosomal mutations, and unidentified multiple congenital abnormalities as indicators of germinal dominant gene and chromosomal mutations were selected from the material of the Hungarian Congenital Abnormality Registry. Diagnoses were checked, familial and sporadic cases were separated and only the sporadic cases were evaluated. The analysis of indicator conditions did not reveal any measurable germinal mutagenic effect of the Chernobyl accident in Hungary.

Abnormalities, Radiation-Induced↗
PubMed1995

[A Japanese family with congenital abnormal plasminogen].

A Japanese family with congenital abnormal plasminogen is reported. The patient was a 44-year-old male with no past history of thrombosis. Since only the plasminogen (PLG) activity was reduced on laboratory tests before surgery for lumbar disc herniation, coagulation and fibrinolysis studies were performed in the patient and his family. The patient underwent resection of the nucleus pulposus and posteriorlateral fixation of the lumbar spine. The PLG activity was 8% in the patient and his sister, 55% in his father, and 53% and 48% in his nephew brothers. The PLG antigen level was normal in all members of his family examined. IEF of PLG antigen showed abnormal patterns in which all bands were shifted slightly to the cathode side in the patient and his sister, but his father and nephew brothers exhibited duplicated bands showing combinations of normal and abnormal patterns. From these results, the proband and his sister were considered to be homozygotes, and his father and nephew brothers to be heterozygotes for congenital abnormal plasminogen. Acute reactant substances (fibrinogen, CRP, CPK, C1IN, alpha 1AT, etc.) and PIC (plasmin, alpha 2-plasmin inhibitor complex) increased after the operation due to the surgical insult, but the surgery did not trigger thrombosis. This patient is considered not to have developed thrombosis although he was a homozygote for congenital abnormal plasminogen, because the anticoagulation process until thrombogenesis was normal.

Adult↗
PubMed2005

Risk of specific congenital abnormalities in offspring of women with diabetes.

AIMS: To assess the extent to which the increased risk of congenital abnormalities seen in women with pre-gestational insulin-treated diabetes mellitus is unspecific or related to the embryology of specific organs. METHODS: Cases with congenital abnormalities were identified in the population-based Hungarian Congenital Abnormality Registry from 1980 to 1996 with two newborn children without congenital abnormality selected from the National Birth Registry as controls. We adjusted for parity, maternal age, and use of antipsychotic drugs. RESULTS: Among cases we found 63/22,843 babies with maternal diabetes compared with 50/38,151 in the control group [adjusted prevalence odds ratio (POR) 2.1; 95% CI 1.5-3.1]. The association was strongest for the following congenital abnormalities: renal agenesis (POR: 14.8; 95% CI, 3.5-62.1), obstructive congenital abnormalities of the urinary tract (POR: 4.3; 95% CI, 1.3-13.9), cardiovascular congenital abnormalities (POR: 3.4; 95% CI, 2.0-5.7), and multiple congenital abnormalities (POR: 5.0; 95% CI, 2.4-10.2). CONCLUSIONS: These data indicate that pre-gestational maternal diabetes is associated with strong teratogenic effects on the kidney, urinary tract, and heart, and strongly associated with multiple congenital abnormalities. We found no material association between diabetes and spinal congenital abnormalities and limb deficiencies.

Abnormalities, Drug-Induced↗