RESUMO
AIM: We aimed to set-up a passive malformations registry for 2002-2004 for the German Federal State of Mecklenburg-Western Pomerania in order to estimate the prevalence of congenital malformations among live births, stillbirths, miscarriages, and induced abortions. POPULATION AND STUDY DESIGN: Under the guidance of the working group "Neonatology Mecklenburg-Vorpommern" a standardised malformations record form modelled after the Mainz registry was developed and used to record malformations among live births, stillbirths, miscarriages, and induced abortions in all 21 obstetric departments in Mecklenburg-Western Pomerania between 2002 and 2004. We compared the population of neonates with malformations with a general population sample from the German Perinatal Survey of 1995-1997. RESULTS: There were 768 neonates with at least one major malformation among a total of 37 634 neonates in Mecklenburg-Western Pomerania; this means that the prevalence of major malformations was 203.53 per 10 000 neonates. The prevalence of major malformations in liveborn infants was 178.61 per 10 000. The most common malformations in the total study population were ventricular septal defect (prevalence: 37.2 per 10 000), hydronephrosis (16.7 per 10 000), hypospadias (14.8 per 10 000), Down syndrome (10.1 per 10 000), and cleft lip and palate (9.0 per 10 000). Among the induced abortions the most common diagnoses were Down syndrome, anencephalus, Edwards syndrome, and congenital hydrocephalus. The preterm birth rate among the 637 liveborn and stillborn infants with malformations was 19.6%; 5.6% were born before 32 completed weeks of gestation. The small for gestational age rate for infants with malformations was 14.2% for girls and 14.5% for boys, thus increased compared with the general population sample (9.7%). CONCLUSIONS: Congenital malformations are important determinants of childhood morbidity and mortality. Malformation prevalence and types of malformations, along with morbidity and mortality, are important parameters in perinatal medicine. The establishment of active malformation registries is therefore an important task.
Assuntos
Aborto Induzido/estatística & dados numéricos , Aborto Espontâneo/epidemiologia , Anormalidades Congênitas/mortalidade , Nascido Vivo/epidemiologia , Sistema de Registros/estatística & dados numéricos , Natimorto/epidemiologia , Estudos de Coortes , Feminino , Alemanha/epidemiologia , Humanos , Recém-Nascido , Masculino , Medição de Risco , Fatores de RiscoRESUMO
BACKGROUND: The aim was to compare the antenatal care and the intake of vitamins and medications of infertility patients with singleton pregnancies after ICSI to women with a spontaneously conceived singleton pregnancy. METHODS: The data on the antenatal care of 2055 singleton pregnancies after ICSI from a prospective controlled multicentre study in Germany were analysed. The prospectively collected data of the control group of 7861 singletons were retrospectively assessed for the present analysis. RESULTS: The ICSI patients were significantly older (32.9 versus 27.0 years, P<0.019) and more likely to be obese (body mass index>or=30 kg/m2: 13.9 versus 4.8%, P<0.001) than the controls. The control mothers were significantly more likely to smoke (19.2%) or to consume alcohol (23.5%) during pregnancy than the ICSI mothers (7.4 and 0.6% respectively). Only 38.1% of ICSI patients took folic acid before conception. Only 61.7% of ICSI patients received an iodine supplementation at some point during pregnancy. ICSI patients went more regularly to the routine antenatal care consultations at the gynaecologist and had ultrasound examinations performed more regularly than the controls. The absolute number of ultrasound examinations was significantly higher in the ICSI group (13.6+/-6.0 versus 4.1+/-2.4). CONCLUSION: In spite of the intensive use of antenatal medical care by patients pregnant after ICSI, simple methods, such as the use of supplementary iodine and periconceptional folic acid, were used rarely. This indicates that counselling pregnant patients after ICSI about periconceptional and antenatal care seems to be insufficient in Germany and must be improved.
Assuntos
Fertilização/fisiologia , Cuidado Pré-Natal , Injeções de Esperma Intracitoplásmicas , Adulto , Índice de Massa Corporal , Estudos de Coortes , Feminino , Alemanha , Humanos , Idade Materna , Cooperação do Paciente , Gravidez , Valores de ReferênciaRESUMO
For the last 20 years the prophylactic effect of the vitamin folic acid against the occurrence of neural tube defects has been known but in Germany this fact has not been realized by the public. The recommendations by medical institutions fail, among other reasons, because a folic acid prescription by gynaecologists comes too late in the course of events, i.e., women go to the gynaecologist when pregnancy has already set in and it is too late for preventive measures. An effective folic acid prophylaxis must take place before the onset of pregnancy. Data from the regional surveillance of congenital anomalies of the German Federal State of Saxony-Anhalt and interviews with women in maternity, as well as gynaecologists, indicate that there is a substantial knowledge deficit concerning folic acid prophylaxis. In 1998, therefore, a working group was set up in Saxony-Anhalt. It comprises representatives from interested institutions and has the goal of rectifying the knowledge deficit of women of childbearing age by way of a broad-based campaign while making use of the results of regional congenital anomalies monitoring. A pharmaceutical company was enlisted for cost-free distribution of its folic acid product. Legal problems with the prescription drug laws, the law against unfair competitive practices, the advertising of medicaments law and the SGB V (social code) made it impossible to procure multivitamins containing folic acid free of charge for women wanting a child. A highly differentiated legislation has hitherto prevented an elementary improvement in prevention.
Assuntos
Aprovação de Drogas/legislação & jurisprudência , Custos de Medicamentos/legislação & jurisprudência , Ácido Fólico/administração & dosagem , Defeitos do Tubo Neural/prevenção & controle , Cuidado Pré-Concepcional/legislação & jurisprudência , Feminino , Ácido Fólico/economia , Alemanha , Humanos , Recém-Nascido , Defeitos do Tubo Neural/etiologia , GravidezRESUMO
The epidemiological analysis of trisomy 21 presented for the new federal German state of Saxony-Anhalt describes trends and changes in the frequency of Down's syndrome and prevalences of the pregnancy outcomes including acceptance of prenatal diagnostic measures in the period from 1980 and with separate analysis for the period since reunification in 1990. The average prevalence in the entire period is 1.0 per 1000 births. In 1997, a prevalence of 1.7 per 1000 births was already observed. After 1990, there is an increase in the prevalence of conceptions with trisomy 21 whereas the prevalence of live births with Down's syndrome remained the same. The reasons for this are an increase in the age of the mothers and a broad acceptance of prenatal diagnostics. Ethical questions, that might for example reveal societal changes in the attitude to children with Down's syndrome have not been considered in the analysis, since this would require sociological investigations which cannot be carried out by the malformations register.
Assuntos
Síndrome de Down/epidemiologia , Diagnóstico Pré-Natal , Adulto , Síndrome de Down/diagnóstico , Feminino , Alemanha/epidemiologia , Humanos , Recém-Nascido , Idade Materna , Pessoa de Meia-Idade , Gravidez , PrevalênciaRESUMO
From 1980 to 1996 1.8% of all births died as a result of malformations during the first week of life. This rate has been declining significantly after 1992. Congenital malformations of the heart have increased significantly because of improved diagnostic methods. From 1980 to 1996 0.67/1000 of all children died of vitium cordis during the first week of life. From 1992 to 1996 this group of malformations increased the perinatal mortality rate by 0.4/1000. There is a decreased mortality rate of neural tube defects by 0.25/1000 1980 to 1986 and by 0.08/1000 1992 to 1996. Trisomy 21: the early mortality rate decreased from 0.07/1000 to 0.03/1000. The number of non-deceased children with Down's syndrome remains constant, even though 40 per cent of all cases with trisomy 21 were prenatal. 3 per cent of all malformed newborn died during the first week of life as a result of their congenital malformations. The possibility of primary prevention of malformations with folic acid has not been sufficiently utilised.
Assuntos
Anormalidades Congênitas/mortalidade , Mortalidade Infantil/tendências , Causas de Morte , Anormalidades Congênitas/prevenção & controle , Feminino , Previsões , Alemanha/epidemiologia , Humanos , Recém-Nascido , MasculinoRESUMO
Periconceptional intake of folic acid is one of only few possibilities of preventing congenital malformations. We report on the update situation of applying folic acid and the effects on the prevalence of neural tube defects and oral clefts. The analysis is based on data of the malformation registry in Saxony-Anhalt. A common public campaign on the benefit of folic acid protection is presented.
Assuntos
Anormalidades Congênitas/prevenção & controle , Ácido Fólico/uso terapêutico , Anormalidades Congênitas/epidemiologia , Feminino , Alemanha/epidemiologia , Humanos , Recém-Nascido , Gravidez , Estudos ProspectivosRESUMO
Between 09/01/92 and 08/31/95 the Mainz model to register birth defects had been tested in the city of Magdeburg at the same time when the regional register instituted in 1980 was continued. The aim of this hospital-based model for the thorough registry of malformations in neonates is to examine all newborns born in hospitals using clinical and sonographical methods by experienced physicians according to a standardized scheme. Additional medical and social data were recorded. Data on live-and stillborn as well as spontaneous abortions older than the 16th gestational week and induced abortions following prenatal diagnosis were included. During the survey 5255 neonates were examined. The calculated percentage of major birth defects (by definition) was 7.8% and therefore higher than reported before. The experience with the Mainz model in the city of Magdeburg demonstrates, that this model is basically applicable to other centres. It is possible to obtain valid data on malformation frequencies in a defined population. Special attention has to be paid to certain conditions in the composition of hospital populations.
Assuntos
Anormalidades Congênitas/epidemiologia , Triagem Neonatal , Sistema de Registros/estatística & dados numéricos , População Urbana/estatística & dados numéricos , Feminino , Morte Fetal/epidemiologia , Alemanha/epidemiologia , Humanos , Recém-Nascido , Computação Matemática , Modelos Estatísticos , GravidezRESUMO
The Magdeburg Register of birth defects includes information on the incidence rate of neural tube defects (NTD) in the city of Magdeburg since 1980, and in the Regierungsbezirk (administrational district) since 1987. The average prevalence of NTD was 16.4 per 10,000 births in the city of Magdeburg, and 12 per 10,000 births in the surrounding counties. Besides of this significant difference between the city and counties, there are conspicuous variations from one year to the next. In 1987 the prevalence of NTD was about 27 per 10,000 births in the city of Magdeburg whereas the observed prevalence in the countryside was about 19 per 10,000 births. Different eating habits and/or increased teratogenic influences in the city may be considered as causes. In 1997 there was also a high rate of incidence of NTD in the city of Magdeburg--16.4 per 10,000 births. The incidence rate of NTD in the counties (about 10 per 10,000) births) is again lower than in the city. Because of these incidence rates, we may assume that the examined population is insufficiently protected by folic acid in the preconceptional stage.
Assuntos
Defeitos do Tubo Neural/epidemiologia , População Rural/estatística & dados numéricos , População Urbana/estatística & dados numéricos , Causalidade , Estudos Transversais , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Recém-Nascido , Defeitos do Tubo Neural/etiologia , GravidezRESUMO
There is a varying frequency of oral clefts between different ethnic groups and several European regions: however, global investigations on the incidence of oral clefts over longer periods in Germany do not exist, because there has been no continuous system of registering malformations. Such a registration system has been in existence in Magdeburg, with a population of about 1.5 million and a yearly birth rate of about 8000 children, since 1980. A very high rate of oral clefts was found in Magdeburg, mainly a cleft lip with or without a cleft palate, which is a prevalence of 18.5 per 10,000 births. Twenty-two percent of all children with oral clefts had additional malformations. At a rate of about 10%, heart defects were most frequently combined with oral clefts. A significant prevalence increase was recorded in 1988 and 1989. Exogenous influences are being considered as a joint cause for this increase because of the prevalence peaks of neural tube defects from 1987 to 1989.
Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anormalidades Múltiplas/epidemiologia , Estudos Transversais , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Recém-Nascido , Masculino , Fatores SexuaisRESUMO
Since there is no nationwide system and documentation of congenital malformations in Germany, local health authorities were not able to respond to the question of an increase in limb reduction defects occurring on the coast of Northern Germany. Previously, such an increase had been reported by the media in England in 1994. For limb reduction defects, the feasibility and efficiency of the so-called "Magdeburg-model" for monitoring congenital malformations is demonstrated. This model provides data on reduction defects for analysing regional (Magdeburg versus Magdeburg county) and temporal trends, and for classifying reduction defects. The data are based on a population of 214.901 births (lifebirths and stillbirths) and on the analysis of 64 cases with limb reduction defects over a 15-year period. In 1992-1994 in Magdeburg and Magdeburg county no increase of limb reduction defects and other indicator malformations were found.
Assuntos
Ectromelia/epidemiologia , Estudos Transversais , Coleta de Dados , Ectromelia/classificação , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Recém-Nascido , Masculino , Modelos EstatísticosRESUMO
Subject of our research were etiology and frequency of hypodontia and the possible effects of hypodontia on correct formation of dental arches in the course of dentition development. Methodologically the diagnostic records of 3238 patients of an orthodontic practice in Magdeburg, Germany, were evaluated. In addition to determining the frequency of hypodontia (8.1%), special attention was paid to accompanying micro-symptoms. 169 family members of 35 patients with teeth aplasia were questioned and examined and then extended family tables were drawn up. In addition, 105 dental casts from both patients with aplasia and patients with full dentition were measured. The results thus obtained made possible a comparison of the teeth and jaw size of the group with hypodontia with the group without hypodontia.
Assuntos
Anodontia/etiologia , Adolescente , Adulto , Anodontia/diagnóstico , Anodontia/epidemiologia , Anodontia/genética , Criança , Feminino , Alemanha Oriental/epidemiologia , Humanos , Incidência , Masculino , Linhagem , Distribuição por SexoRESUMO
From a group of 201 mentally retarded boys 149 were clinically and somatometrically examined. Chromosomal analysis for detection of a fra(X)-syndrome was undertaken, when more than 3 of the chosen examination parameters were suspicious or when anamnestic clues for X-chromosomally linked mental retardation were present. 89 boys fulfilled above requirements, 14 of these had a fra(X)-syndrome (15.7%). The following symptoms were found with outstanding frequency: hyperactivity, hypotonic muscles, enlargement of testes, increased length of hands, retarded development of speech, dermatoglyphic abnormalities. If more than 3 of these findings occur, a chromosomal analysis for exclusion of a fra(X)-syndrome should be performed.
Assuntos
Síndrome do Cromossomo X Frágil/genética , Testes Genéticos , Deficiência Intelectual/genética , Criança , Aberrações Cromossômicas/diagnóstico , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Diagnóstico Diferencial , Síndrome do Cromossomo X Frágil/diagnóstico , Humanos , Deficiência Intelectual/diagnóstico , MasculinoRESUMO
The induction of chromosome aberrations (CAs) and sister-chromatid exchanges (SCEs) was examined in cultured lymphocytes from 23 individuals employed in the production of the drug 1-propoxy-2-acetamino-4-nitrobenzol. Lymphocytes of workers were cultured before and 13 weeks after starting professional activity. The latter showed a significant increase in both CAs and SCEs. Smokers (11 individuals) and non-smokers (12 individuals) were indistinguishable with respect to the frequencies of CAs or SCEs before starting professional activity, 13 weeks later smokers exhibited significantly more SCEs than non-smokers. This strongly suggests a comutagenic interaction of cigarette smoke and exposure to chemicals during drug production. On the basis of the technology applied the compound inducing CAs and SCEs in lymphocytes of smoking workers seems to be 2-acetamino-4-nitrophenol.
Assuntos
Acetanilidas/toxicidade , Anti-Inflamatórios não Esteroides/toxicidade , Aberrações Cromossômicas , Indústria Farmacêutica , Linfócitos/efeitos dos fármacos , Troca de Cromátide Irmã , Fumar/genética , Adolescente , Adulto , Células Cultivadas , Feminino , Humanos , MasculinoRESUMO
A highly feared complication of anesthesia is malignant hyperthermia (MH). In vivo identification of MH is achieved sonographically. Transducers of 7.5 and 5 MHz were used for transverse cuts of the upper and lower leg. Sonographic changes were found in 22 out of 33 subjects from 12 families affected by MH, including several positive subjects not previously known to be subject to MH. The ultrasound image reveals increased parenchymal echogenicity, with obscuring of intramuscular septum and fascia. Myosonography allows noninvasive screening of family members of subjects with known MH; potentially dangerous challenge testing or biopsy may be reserved for specific indications.
Assuntos
Hipertermia Maligna/diagnóstico , Ultrassonografia , Adolescente , Adulto , Criança , Creatina Quinase/sangue , Feminino , Humanos , Masculino , Hipertermia Maligna/enzimologiaRESUMO
Among 20 kinships affected by facioscapulohumeral and scapulohumeroperoneal neuromuscular syndromes 6 probands with autosomal dominant transmission and 5 obviously sporadic cases revealed myopathic changes on biopsy and were classified to have facioscapulohumer (operone)al muscle dystrophies. 5 autosomal dominant cases and one sporadic case with neurogenic muscle changes and 3 other non-dystrophic phenocopies emphasize the necessity of muscle biopsy for nosological assignment. Definite correlations between mode of inheritance, clinical and morphological findings could not be found. Pathological ultrasound and EMG findings in parents and children of seemingly sporadic cases suggest to assume autosomal dominant inheritance with incomplete penterance in such cases.