Teratology information services in Europe and their contribution to the prevention of congenital anomalies

OBJECTIVES: To inform on Teratology Information Services (TIS) in Europe, their history, function and activity in preventing congenital malformations. CONCLUSIONS: Clinical teratology tries to identify human teratogens. TIS play an important role in public health by providing counsel on known reproductive risks and conducting specific research. This has led to a reduction in unnecessary fears of pregnant women and pregnancy terminations, as well as to better, more appropriate drug selection to treat acute or chronic disease. In addition, TIS units also conduct prospective studies and inform the public and physicians of the possible effects of environmental agents on the developing embryo and fetus.     

Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe

Objectives: Birth defects are a major health burden. Primary prevention is at present emerging, i.e. folate supplementation. When it is not possible, as is still the case for most birth defects, research is needed to determine how an optimal provision of prenatal diagnosis and use of services can be achieved. Ultrasound scans in the midtrimester of pregnancy are now a routine part of antenatal care in most European countries. The objective of this study was to evaluate the prenatal diagnosis of congenital anomalies by fetal ultrasonographic examination across Europe. Methods: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to 3 fetal scans offered, including 2 for biometric purposes and 1 for search of congenital anomalies, the anomaly scan. Results: There were 8,126 cases with congenital anomalies with an overall prenatal detection rate of 44.3%. Termination of pregnancy was performed in 1,657 cases (21.8%). There was significant variation in the prenatal detection rate between regions with the lowest detection rate in registries of countries without routine fetal screening (Denmark and The Netherlands) and the highest detection rate in registries of countries with at least 1 anomaly scan (France, Germany, Italy, Spain, UK). However, there were large variations among the registries with a high detection rate. There were significant differences in the prenatal detection rate and proportion of induced abortions between isolated anomalies and associated anomalies (chromosomal aberrations, recognized syndromes, and multiple without chromosomal aberrations or recognized syndromes). Conclusions: Prenatal detection rate of congenital anomalies by fetal scan varies significantly between registries of European countries even with the same screening policy. Prenatal detection of congenital anomalies is significantly higher when associated malformations are present. The rate of induced abortions varies between registries of countries even with the same detection rate of congenital anomalies. The variation described may be due to cultural and policy differences. Copyright 2002 S. Karger AG, Basel     

From hype to mothballs in four years: troubles in the development of large-scale DNA biobanks in Europe

This paper analyses the difficulties experienced by three large European DNA biobanks. The first, Icelandic-based deCode, generated immense commercial interest and intense ethical controversy. As a biotechnology company, deCode succeeded, but the Icelandic Health Sector Data Base failed. The second firm, Swedish UmanGenomics, marketed itself as the 'ethical' biotech company. Management problems including the inadequate recognition of intellectual property issues led to the company failing to secure adequate investment. The third and largest, UK Biobank, has, as a non-profit organization, not experienced these problems. But when the product - bio information--is marketed, the issue of ethically acceptable purchasers could well become contentious.     

Epidemiology of Usher syndrome in Valencia and Spain

OBJECTIVE: To obtain epidemiological data on the prevalence of the different types of Usher syndrome (US) in Spain, since these data were missing; to estimate the proportion of sporadic cases among simplex families, and calculate the prevalence of the Usher syndrome in a homogeneous population from Eastern Spain (3,875,234 inhabitants) that is representative of the Spanish population. METHODS: Otological, ophthalmological and genetic studies were performed in 89 US patients from 46 families and subjected to statistical and segregation analysis. RESULTS: 41.6% of them suffered US type I, 46.1% type II, and in 12.3% the classification remains unclear. The estimated prevalence for the Province of Valencia was 4.2/100,000. There was a notable excess of male-only affected multiplex sibships in our sample that could be attributable to an X-linked inheritance. CONCLUSIONS: The number of families with USI type was similar to that of families with USII type. The estimated prevalence for the Province of Valencia is in agreement with other reports in which the estimate for the prevalence of US ranges from 1.8 to 6.2/100,000.     

A cytogenetic register of down syndrome in Lebanon

OBJECTIVES: To provide data on the cytogenetics and epidemiology of Down syndrome in our community. METHODS: All cases of Down syndrome diagnosed cytogenetically were entered over a period of 5 years together with data regarding age at referral, parental ages and parity. RESULTS: A total of 280 cases were entered. In postnatal cases, the mean maternal age was 32.19 years and 41.5% of mothers were over 35 years. Only 47.3% of Down syndrome children were diagnosed at less than 1 month of age. The male to female sex ratio of 1.66 is significantly more elevated than that reported in larger registers. CONCLUSIONS: Because of problems inherent to Lebanon, this register does not have a high level of ascertainment, however it appears that the emphasis in a potential prevention programme should be placed on education, information and family planning.     

Down syndrome and parity

OBJECTIVE: To investigate the effect of parity on Down syndrome (DS). METHODS: The study was conducted on data from Northeast Italy (NEI) (1981-1996) and Sicily (ISMAC) (1991-1996) Congenital Malformation Registries. In these areas, all DS births are recorded and confirmed by chromosomal analysis; the NEI Registry also registers pregnancy terminations (TOPs) after prenatal diagnosis of DS. In order to estimate the effect of parity independently of the mother's age and to reduce the truncation effect, different age classes and three classes of parity (1, 2-4, >4) were defined. RESULTS: The study sample consisted of 1,088 consecutive newborns and 169 consecutive fetuses affected by DS. In both NEI and ISMAC samples, we found a significantly increased risk of having a DS child for multiparas > or =35 years of age. In the NEI sample, the inclusion of TOP data did not seem to modify this finding. In the ISMAC sample, a significantly reduced risk for primiparas was found at all ages. CONCLUSIONS: Our data confirm a higher risk of having a DS child in women with parity >4. As this effect is evident only in women > or =35 years age, its practical impact is null because these women are usually offered prenatal diagnosis in any case. However, the mechanisms involved, if this association is true, are very intriguing and the observation should stimulate scientific studies allowing a better knowledge of the nondisjunction mechanism.     

Recent developments and further aspects of experimental stress analysis in the Federal Republic of Germany and Western Europe

With respect to the fast developments in computer techniques, new fields of application of experimental stress analysis are opened. As only a combination of theoretical and experimental stress analysis in all statical, dynamical and stability problems guarantees reliable and most accurate results, hybrid techniques based on advanced theories are to be introduced. This is possible under the presupposition of modern measuring devices and higher precision in data acquisition and evaluation by means of automatic devices. The recent developments in semiconductor techniques and the availability of computers with high-storage capacity render possible on-line procedures in experimental techniques on the basis of the already known methods.     

Getting ready for the future: integration of genomics into public health research, policy and practice in Europe and globally

The integration of genomics into public health research, policy and practice will be one of the most important future challenges that our health care systems will face. The next decade will provide a window of opportunity to establish infrastructures that will enable the scientific advances to be translated into evidence-based policies and interventions that improve population health. Approaches for national, European and international institutionalization of public health genomics are shown that aim to champion these challenges.     

High distress in parents whose children undergo predictive testing for long QT syndrome

OBJECTIVES: To assess the psychological effect of predictive testing in parents of children at risk for long QT syndrome (LQTS) in a prospective study. METHODS: After their child was clinically screened by electrocardiography and blood was taken for DNA analysis, and shortly after delivery of the DNA test result, 36 parents completed measures of psychological distress. RESULTS: 24 parents were informed that at least one of their children is a mutation carrier. Up to 50% of the parents of carrier children showed clinically relevant high levels of distress. Parents who were familiar with the disease for a longer time, who had more experiences with the disease in their family and who received positive test results for all their children were most distressed. CONCLUSIONS: Predictive ECG testing together with DNA testing has a profound impact on parents whose minors undergo predictive testing for LQTS.     

腕管综合征及其生物力学研究进展

腕管综合征(carpal tunnelsyndrome, CTS)是腕部正中神经受到卡压而引起的一种神经病症. 它所带来的高昂的社会和经济花费使得腕管综合征的研究应运而生, 并且在过去的10年里得到突飞猛进的发展. 常规的手术方式是将腕横韧带(transversecarpal ligament)切开, 以释放正中神经(mediannerve)所受到的压力. 本文不仅对腕管的解剖结构、腕管综合征的症状和发病机理、以及诊断和治疗等方面作了简要概述,还主要从以下几个方面探讨了近年来与腕管综合征相关的生物力学研究工作及其进展: (1)影响腕管内压力的因素,包括腕部姿势, 手指、肌腱或手掌所受外荷载的大小, 以及手工劳作的不同频率等; (2)腕管结构的稳定性研究, 如切开腕横韧带或腕骨间掌横韧带对腕刚度的影响, 以及从动力学角度分析腕管减压手术会导致的腕骨失稳现象; (3)腕管内容物(如肌腱、正中神经)的运动及内容物之间以及腕管内容物与腕横韧带之间的相互作用;(4)腕横韧带的延展实验, 如利用外荷载或移位搭接的方法拉长腕横韧带, 以达到降低腕管内压力的目的. 本文旨在加强人们对腕管综合征尤其是对与腕管综合征相关的生物力学研究进展的了解, 并从生物力学的观点提出利用有限元方法对腕管结构进行三维建模与分析将有可能成为腕管综合征进一步研究的一个重要发展方向.      

Numerical analysis for the efficacy of nasal surgery in obstructive sleep apnea hypopnea syndrome

In the present study, we reconstructed upper airway and soft palate models of 3 obstructive sleep apnea-hypopnea syndrome（OSAHS） patients with nasal obstruction. The airflow distribution and movement of the soft palate before and after surgery were described by a numerical simulation method. The curative effect of nasal surgery was evaluated for the three patients with OSAHS. The degree of nasal obstruction in the 3 patients was improved after surgery. For 2 patients with mild OSAHS, the upper airway resistance and soft palate displacement were reduced after surgery. These changes contributed to the mitigation of respiratory airflow limitation. For the patient with severe OSAHS, the upper airway resistance and soft palate displacement increased after surgery, which aggravated the airway obstruction. The effcacy of nasal surgery for patients with OSAHS is determined by the degree of improvement in nasal obstruction and whether the effects on the pharynx are beneficial. Numerical simulation results are consistent with the polysomnogram（PSG） test results, chief complaints, and clinical findings, and can indirectly reflect the degree of nasal patency and improvement of snoring symptoms, and further,provide a theoretical basis to solve relevant clinical problems.     

Numerical analysis for the effcacy of nasal surgery in obstructive sleep apnea hypopnea syndrome

In the present study, we reconstructed upper airway and soft palate models of 3 obstructive sleep apnea–hypopnea syndrome(OSAHS) patients with nasal obstruction. The airflow distribution and movement of the soft palate before and after surgery were described by a numerical simulation method. The curative effect of nasal surgery was evaluated for the three patients with OSAHS. The degree of nasal obstruction in the 3 patients was improved after surgery. For 2 patients with mild OSAHS, the upper airway resistance and soft palate displacement were reduced after surgery. These changes contributed to the mitigation of respiratory airflow limitation. For the patient with severe OSAHS, the upper airway resistance and soft palate displacement increased after surgery, which aggravated the airway obstruction. The effcacy of nasal surgery for patients with OSAHS is determined by the degree of improvement in nasal obstruction and whether the effects on the pharynx are beneficial. Numerical simulation results are consistent with the polysomnogram(PSG) test results, chief complaints, and clinical findings, and can indirectly reflect the degree of nasal patency and improvement of snoring symptoms, and further,provide a theoretical basis to solve relevant clinical problems.     

Economic evaluation of prenatal population screening for fragile X syndrome

OBJECTIVES: This paper models costs and benefits of a population screening programme for pregnant women to detect fragile X syndrome. Given the high lifetime costs of fragile X and the high sensitivity and specificity of testing, such a programme may seem attractive. METHODS: Economic evaluation. RESULTS: Our base case results indicate that such a programme seems close to cost neutral, so may indeed seem attractive for this reason. However, sensitivity analysis shows that assumptions regarding lifetime costs are crucial to results; our results suggest if lifetime costs are under AUD 2.5 million, costs of screening will exceed future costs avoided. CONCLUSIONS: Economic modelling of screening programmes reveals valuable information which might have an influence on the debate on the social value of a population screening programme for fragile X in pregnant women.     

Age at postnatal diagnosis of down syndrome in the northern Netherlands for the period 1981-2000

BACKGROUND: In live-born children with Down syndrome it may be very difficult for the clinician or midwife assisting at the delivery to recognise Down syndrome in newborn babies due to varying physical appearances. Meanwhile more and more therapeutical interventions become available that should start early in life. We were interested in the age at the postnatal diagnosis of Down syndrome, and found no literature on the subject. METHODS: We studied the age at the diagnosis of Down syndrome for live-born babies born in the period of 1981-2000 and registered by the European Registration of Congenital Anomalies in the northern part of The Netherlands. RESULTS: For 289 children, data on the age at the postnatal diagnosis were available, in 70.8% of whom there was suspicion of DS on the day of birth. In 1.7% of the cases, the diagnosis was made after 1 year. Place of birth and the specialty of the health worker assisting at the delivery were associated with age at diagnosis. When the child was delivered at hospital, 96.4% of the Down syndrome cases had been diagnosed within 1 month compared to 81.3% following home delivery. CONCLUSION: In some cases of Down syndrome in live-born babies, the diagnosis is made only after months or a year. The diagnosis was made faster in babies born in hospital compared to those born at home.     

Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia

OBJECTIVE: Parents of children with mental or physical disabilities have been assumed to live more stressful lives than other parents, and people with Down syndrome (DS) may get second-rate care because of their diagnosis. The aim of this work is to investigate the extent of parents' satisfaction with medical and social services in Estonia provided for the DS individuals and their families. METHODS: From 1999 to 2001, fifty-nine DS families answered questionnaires in which we inquired about their satisfaction with medical and social assistance. RESULTS: We found that satisfaction with the quality of the information about DS is low, and most of the parents are not satisfied with the social benefits and rehabilitation options. CONCLUSIONS: The DS families need more medical information about this syndrome.The medical staff has to learn more about how to deliver bad news and how to support parents. More work needs to be done in the area of rehabilitation options and social assistance.