Foundation for the Community Control of Hereditary Diseases

Budapest, Hungary

Foundation for the Community Control of Hereditary Diseases

Budapest, Hungary
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Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases
Annals of Nutrition and Metabolism | Year: 2011

The prevention of neural tube defects with periconceptional folic acid or folic acid-containing multivitamin supplementation is accepted by the scientific community; here the possible prevention of cardiovascular malformations is discussed. The aim of this presentation is to show the main findings of trials and studies that resulted in the prevention of neural tube defects and particularly cardiovascular malformations by folic acid-containing multivitamins or folic acid supplementation in order to stimulate the incorporation of folic acid-containing multivitamins or folic acid in the prevention of cardiovascular malformations. Copyright © 2011 S. Karger AG, Basel.


Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases
Journal of injury & violence research | Year: 2011

The aim of the Budapest Monitoring System of Self-Poisoning Pregnant Women was to evaluate the potential congenital abnormality inducing effect of extremely large doses of drugs among pregnant women who attempted suicide. This system was appropriate to describe the characteristics of these pregnant women as a secondary finding from this model. All self-poisoned patients were cared for at a toxicological inpatient clinic in Budapest, between 1960 and 1993. Of a total of 1,044 pregnant women identified from the three different periods of the project, only 19 (1.8%) died. Women who survived were visited at home to reveal birth outcomes, and their exposed children were examined medically to identify congenital abnormalities and tested to estimate their cognitive-behavioral status. The previous or subsequent children of these pregnant women were used as controls with a similar examination protocol. In general, self-poisoned pregnant women were young (peak age was between 18 and 20 years), 62% had their first pregnancy, 55% were unmarried, they had lower socioeconomic status, 46% were smokers and 22.5% drinkers, but depression/panic disorder occurred only among 17 pregnant women. Suicide attempts with drugs were most frequent in the fourth post-conceptional week and second month of pregnancy. In general they used smaller doses of drugs for suicide than non-pregnant age-matched women. Of 1,044 self-poisoned pregnant women, 926 had known pregnancy outcomes and 411 (44.4%) delivered live-born babies. The self-poisoning model appears to have several benefits (e.g., dose-response estimation of drugs) in comparison with other methods when evaluating teratogenic/fetotoxic effect of drugs. It is suggested that an international monitoring system of self-poisoned pregnant women should be established to provide a larger data base.


Banhidy F.,Semmelweis University | Szilasi M.,Debrecen University | Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases
European Journal of Obstetrics Gynecology and Reproductive Biology | Year: 2012

Objective: To investigate the association of pre-eclampsia (PE) or PE with superimposed chronic hypertension (PE + SCH) in pregnant women with the risk of various structural birth defects (i.e. congenital abnormalities) in their offspring. Study design: A population-based case-control study using the Hungarian Case-Control Surveillance of Congenital Abnormalities data set (1980-1996), including 22,843 cases with congenital abnormalities and 38,151 matched controls without any congenital abnormalities. The incidence of PE and PE + SCH was compared in women who had offspring with congenital abnormalities (cases) and women who had offspring without any congenital abnormalities (controls). Results: The incidence of PE was examined in 585 cases and 1017 controls, and the incidence of PE + SCH was examined in 154 cases and 269 controls. None of the 25 studied types of congenital abnormality was found to be more likely among the offspring of women with PE. However, the risks of renal dysgenesis [odds ratio (OR) 4.7, 95% confidence interval (CI) 1.7-12.8], esophageal atresia/stenosis (OR 4.6, 95% CI 1.8-12.2) and rectal/anal stenosis (OR 3.7, 95% CI 1.6-8.5) were higher in the offspring of pregnant women with PE + SCH. Conclusions: PE in pregnant women was not associated with a higher risk of any congenital abnormalities in their offspring, but PE + SCH was associated with a higher risk of renal dysgenesis, esophageal atresia/stenosis and rectal/anal stenosis. These findings need confirmation in other studies. © 2012 Elsevier Ireland Ltd. All rights reserved.


Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases | Dudas I.,Foundation for the Community Control of Hereditary Diseases | Paput L.,State Health Center | Banhidy F.,Semmelweis University
Annals of Nutrition and Metabolism | Year: 2011

Background/Aims: To review the main results of intervention trials which showed the efficacy of periconceptional folic acid-containing multivitamin and folic acid supplementation in the prevention of neural-tube defects (NTD). Methods and Results: The main findings of 5 intervention trials are known: (i) the efficacy of a multivitamin containing 0.36 mg folic acid in a UK nonrandomized controlled trial resulted in an 83-91% reduction in NTD recurrence, while the results of the Hungarian (ii) randomized controlled trial and (iii) cohort-controlled trial using a multivitamin containing 0.8 mg folic acid showed 93 and 89% reductions in the first occurrence of NTD, respectively. On the other hand, (iv) another multicenter randomized controlled trial proved a 71% efficacy of 4 mg folic acid in the reduction of recurrent NTD, while (v) a public health-oriented Chinese-US trial showed a 41-79% reduction in the first occurrence of NTD depending on the incidence of NTD. Conclusions: Translational application of these findings could result in a breakthrough in the primary prevention of NTD, but so far this is not widely applied in practice. The benefits and drawbacks of 4 main possible uses of periconceptional folic acid/multivitamin supplementation, i.e. (i) dietary intake, (ii) periconceptional supplementation, (iii) flour fortification, and (iv) the recent attempt for the use of combination of oral contraceptives with 6S-5-methytetrahydrofolate (methylfolate), are discussed. Obviously, prevention of NTD is much better than the frequent elective termination of pregnancies after prenatal diagnosis of NTD fetuses. © 2011 S. Karger AG, Basel.


Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases | Banhidy F.,Semmelweis University
Current Opinion in Clinical Nutrition and Metabolic Care | Year: 2011

Purpose of review: After the short summary of history of primary prevention of neural tube defects by folic acid or folic acid-containing multivitamin supplementation during the periconception period, the three main unsolved problems are highlighted. Recent findings: Both intervention trials and observational studies confirmed that this new primary preventive method is effective - beyond the prevention of neural-tube defects - in the reduction of the most common structural birth defects: congenital cardiovascular abnormalities. Nevertheless, this important progress in the field of congenital abnormalities is not appreciated appropriately. The periconception supplementation of both folic acid alone and folic acid-containing multivitamin is useful; however, the available data indicate the higher efficacy of multivitamins in the primary prevention of neural-tube defects and congenital cardiovascular abnormalities. The optimal dose of folic acid is not known though this knowledge would be necessary from both a scientific and practical aspect. Summary: Periconception folic acid or folic acid-containing multivitamin supplementation has resulted in a breakthrough in the primary prevention of neural-tube defects, cardiovascular abnormalities and probably some other defects; however, extra efforts are necessary to eliminate folic acid or folic acid-containing multivitamin preventable congenital abnormalities. © 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins.


Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases | Dudas I.,Foundation for the Community Control of Hereditary Diseases | Vereczkey A.,Human Reproduction Institute | Banhidy F.,Semmelweis University
Nutrients | Year: 2013

Diet, particularly vitamin deficiency, is associated with the risk of birth defects. The aim of this review paper is to show the characteristics of common and severe neural-tube defects together with congenital heart defects (CHD) as vitamin deficiencies play a role in their origin. The findings of the Hungarian intervention (randomized double-blind and cohort controlled) trials indicated that periconceptional folic acid (FA)-containing multivitamin supplementation prevented the major proportion (about 90%) of neural-tube defects (NTD) as well as a certain proportion (about 40%) of congenital heart defects. Finally the benefits and drawbacks of three main practical applications of folic acid/multivitamin treatment such as (i) dietary intake; (ii) periconceptional supplementation; and (iii) flour fortification are discussed. The conclusion arrived at is indeed confirmation of Benjamin Franklin's statement: "An ounce of prevention is better than a pound of care". © 2013 by the authors; licensee MDPI, Basel, Switzerland.


Vereczkey A.,Human Reproduction Institute | Kosa Z.,Human Reproduction Institute | Csaky-Szunyogh M.,National Center for Healthcare Audit and Inspection | Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases
Birth Defects Research Part A - Clinical and Molecular Teratology | Year: 2013

The role of possible environmental factors in the origin of congenital heart defects is unclear in the vast majority of patients. The objective of this study was to describe the birth outcomes and risk factors in isolated atrioventricular canal defect (AVCD) cases. METHODS: Medically recorded birth outcomes, maternal age, parity, acute and chronic maternal diseases with related drug treatments and folic acid/multivitamin supplementation were evaluated in isolated AVCD cases. The diagnosis of AVCD was based on the autopsy report or surgical description in the population-based Hungarian Case-Control Surveillance of Congenital Abnormalities, between 1980 and 1996. RESULTS: The birth outcomes and exposures of 77 isolated AVCD cases were compared with 38,151 controls without defect. Mean gestational age at delivery (38.6 week) and birth weight (2992 g), rate of preterm birth (20.8%) and low birthweight (23.4%) of cases with a female excess (59.7%) differed significantly from the controls. Mothers of cases had higher parity, higher prevalence of conduction disorders/cardiac dysrhythmias and chronic hypertension. The high doses of folic acid in early pregnancy associated with a reduced rate of AVCD. CONCLUSIONS: Conduction disorders/cardiac dysrhythmias and chronic hypertension of mothers may have a role in the origin of AVCD, while high doses of folic acid in early pregnancy may reduce the risk of the development of AVCD. © 2013 Wiley Periodicals, Inc.


Petik D.,Foundation for the Community Control of Hereditary Diseases
Journal of injury & violence research | Year: 2012

The aim of the study was to estimate the effect on the fetal development of high doses of prescription drugs taken as a suicide attempt during pregnancy. Pregnant women were identified among self-poisoned females in the toxicological inpatient clinic in Budapest between 1960 and 1993. Congenital abnormalities, intrauterine development based on birth weight and post-conceptional age, mental retardation, cognitive-behavioral status were compared in exposed children born to mothers who had attempted suicide by means of a drug overdose during pregnancy with their siblings, born either before or after the affected pregnancy, as sib controls. Of a total of 1 044 pregnant women, 74 used the combination of amobarbital, glutethimide and promethazine (Tardyl®, one of the most popular drugs for treatment of insomnia in Hungary) for suicide attempt. Of these 74 women, 27 delivered live-born babies. The mean dose of Tardyl® used for suicide attempts was 24 times the usually prescribed clinical dose. The rate of congenital abnormalities and intrauterine retardation was not higher in exposed children than in their sib controls. However, of the 27 exposed children, eight (29.6%) were mentally retarded (X 2 1=79.7, p= Sig) while mental retardation did not occur among 46 sib controls. These exposed children were born to mothers who attempted suicide with Tardyl® between the 14th and 20th post-conceptional weeks. The components of Tardyl® used separately for a suicide attempt during pregnancy were not associated with a higher risk of mental retardation. Therefore the high doses of Tardyl® associated with the high risk for mental retardation may be due to the interaction of its three drug components. The findings of the study showed that the high doses of a drug containing three components may be associated with a significantly increased risk for mental retardation without any structural defects, whereas each of these three component drugs taken alone was not associated with this adverse effect.


Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases | Metneki J.,National Institute for Health Development | Beres J.,National Institute for Health Development
Congenital Anomalies | Year: 2014

The mandatory notification of patients ("cases") with different congenital abnormalities (CAs) diagnosed from birth until the end of the first postnatal year by medical doctors was ordered by the Ministry of Health in Hungary in 1962 and this CA-registry was continued as the Hungarian Congenital Abnormality Registry (HCAR) based on the international recommendation from 1970. The primary objective of the HCAR has been to determine the baseline birth prevalence rate of different CAs as reliably as possible, with three secondary objectives: (i) to detect temporal and/or spatial clusters of CAs; (ii) to evaluate increasing or decreasing time trends of CAs; and (iii) to assist in the planning of medical and social services for children and families affected by CA so that appropriate resources are allocated efficiently and effectively. This paper summarizes the activities and the evolution of the HCAR over the past 50 years (1962-2011) including the Hungarian Case-Control Surveillance of Congenital Abnormalities for postmarketing surveillance of drug teratogenicity and prevention of CAs; the special evaluation of unidentified multiple CAs; the Hungarian Surveillance of Germinal Mutations and several international collaborations. In conclusion, Hungary enjoyed optimal conditions for the HCAR due to a centralized state health system; all deliveries took place in inpatient clinics; the quality of pediatric care was high and pediatricians notified most CAs. Autopsy was mandatory in infant death, the staff of the HCAR did not consider this CA-registry only as a statistical system but the Hungarian Center for Congenital Anomaly Control and the Hungarian Case-Control Surveillance of Congenital Abnormalities based on the HCAR worked with close collaboration with the parents in order to promote the possible good quality of life of their affected children and to prevent their risk of recurrence. © 2013 Japanese Teratology Society.


Banhidy F.,Semmelweis University | Acs N.,Semmelweis University | Puho E.H.,Foundation for the Community Control of Hereditary Diseases | Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases
Nutrition | Year: 2011

Objective: To estimate the efficacy of iron supplementation in anemic pregnant women on the basis of occurrence of pregnancy complications and birth outcomes. Methods: Comparison of the occurrence of medically recorded pregnancy complications and birth outcomes in pregnant women affected with medically recorded iron deficiency anemia and iron supplementation who had malformed fetuses/newborns (cases) and who delivered healthy babies (controls) in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities. Results: Of 22 843 cases with congenital abnormalities, 3242 (14.2%), while of 38 151 controls, 6358 (16.7%) had mothers with anemia. There was no higher rate of preterm births and low birth weight in the newborns of anemic pregnant women supplemented by iron. However, anemic pregnant women without iron treatment had a significantly shorter gestational age at delivery with a somewhat higher rate of preterm births but these adverse birth outcomes were prevented with iron supplementation. The rate of total and some congenital abnormalities was lower than expected and explained mainly by the healthier lifestyle and folic acid supplements. The secondary findings of the study showed a higher risk of constipation-related hemorrhoids and hypotension in anemic pregnant women with iron supplementation. Conclusion: A higher rate of preterm birth was found in anemic pregnant women without iron treatment but this adverse birth outcome was prevented with iron supplementation. There was no higher rate of congenital abnormalities in the offspring of anemic pregnant women supplemented with iron and/or folic acid supplements. © 2011 Elsevier Inc.

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