[Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities].
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Chromosome Aberrations↗
Biomedical subjects
G J Bonsel
Publications and source records attributed to G J Bonsel.
Membrane sweeping and prevention of post-term pregnancy in low-risk pregnancies: a randomised controlled trial.
OBJECTIVE: To evaluate the effectiveness of membrane sweeping at 41 weeks for the prevention of post-term pregnancy. DESIGN: A multicentre randomised controlled trial. SETTING: Fifty-one primary care midwifery practices in the Netherlands. POPULATION: A total of 742 low-risk pregnant women at 41 weeks of gestation. METHODS: Participants were randomly assigned to serial sweeping of the membranes (every 48 hours until labour commenced up to 42 weeks of gestation) or no intervention. MAIN OUTCOME MEASURES: Post-term pregnancy (>or=42 weeks). Subgroup analyses were performed on nulliparous and parous women. Secondary outcomes included adverse effects. RESULTS: Serial sweeping of the membranes at 41 weeks decreased the risk of post-term pregnancy (87/375 [23%] versus 149/367 [41%]; relative risk [RR] 0.57, 95% CI 0.46-0.71; number needed to treat [NNT] 6 [95% CI 4-9]). Benefits were also seen in both subgroups (nulliparous: 57/198 [29%] versus 89/192 [46%]; RR 0.62 [95% CI 0.48-0.81]; NNT 6 [95% CI 4-12] and parous: 30/177 [17%] versus 60/175 [34%]; RR 0.49 [95% CI 0.34-0.73]; NNT 6 [95% CI 4-6]). Adverse effects were similar in both the groups except for uncomplicated bleeding, which was reported more frequently in the sweeping group. Other obstetric outcomes and indicators of neonatal morbidity were similar in both groups. There were two perinatal deaths in each group. CONCLUSIONS: Membrane sweeping at 41 weeks can substantially reduce the proportion of women with post-term pregnancy.
Adult↗
Nuchal translucency screening and anxiety levels in pregnancy and puerperium.
OBJECTIVES: To compare levels of anxiety and depression during pregnancy and puerperium between women who are offered nuchal translucency (NT) screening routinely and those who are not, and to compare levels between women accepting and those declining screening. METHODS: In 12 midwife practices in three different health districts an experimental NT screening program was offered to pregnant women between 1 June 1999 and 1 January 2001. As part of this implementation study, questionnaires including the Hospital Anxiety and Depression Scale (HADS) were completed: after the patient was informed but before screening (T1), at 20 weeks of gestation (T2), and 6 weeks after delivery (T3). A control group of women receiving routine prenatal care (i.e. no screening offered) also completed the HADS questionnaire at 12 and 20 weeks and after delivery. RESULTS: Five hundred and twenty-seven questionnaires were analyzed. There was a screening uptake of 87% in the intervention group (i.e. those offered screening). Women in this group differed significantly in the percentage of previous miscarriages and religious background compared with the control group. We adjusted for these differences in the analysis. There were no significant differences in HADS scores between the intervention and the control groups at T1, suggesting that women receiving information on screening were not more anxious compared with women who were not informed. Women who were offered screening (acceptors as well as decliners) had significantly lower HADS levels at 20 weeks and after delivery. There were no demographic differences between women accepting and those declining screening. CONCLUSION: Informing women and offering them NT screening for Down syndrome does not increase anxiety or depression levels in pregnancy. In fact, women undergoing or declining screening seem less anxious compared with those who are not offered screening. It is possible that informing women and offering them the chance to decide autonomously whether to participate in screening reduces anxiety levels.
Adult↗
Folic acid knowledge and use in a multi-ethnic pregnancy cohort: the role of language proficiency.
OBJECTIVE: To investigate the role of language proficiency as determinant of folic acid knowledge and use in a multi-ethnic pregnancy cohort. DESIGN: Prospective cohort study. SETTING AND POPULATION: Pregnant women from Amsterdam attending obstetric care for their first antenatal visit. Number approached: 12,373 women, response rate: 67% (8266 women aged 14-49 years). Ethnicity was based on the country of birth: the Netherlands, Surinam, Antilles, Turkey, Morocco, Ghana, other non-Western and other Western countries. MAIN OUTCOME MEASURES: Knowledge about and use of folic acid supplements in pregnancy as elicited in a multilingual questionnaire, as well as determinants of these in ethnic groups separately. RESULTS: Both periconceptional folic acid use and knowledge were significantly lower among Ghanaian, Moroccan, Turkish, and other non-Western women than among women born in the Netherlands or other Western countries. Language proficiency in Dutch was a major determinant of knowledge in all the ethnic groups with a mother tongue other than Dutch [adjusted odds ratios (OR): Western 3.2, non-Western (all countries combined) 7.5], while educational attainment was of secondary importance. Knowledge in turn was the strongest determinant of use (adjusted OR: Western 17.4, non-Western 27.0). CONCLUSIONS: Periconceptional folic acid supplement use among women born in non-Dutch-speaking non-Western countries is low, reflecting a lack of knowledge that is determined by the inability to speak and understand the language of the country of residence. Measures to tackle this problem include the provision of linguistically appropriate information via ethnic health advisors, and language courses integrating health education for immigrants.
Adolescent↗
Immunotherapy with autologous tumor cell-BCG vaccine in patients with colon cancer: a prospective study of medical and economic benefits.
We have completed a multicenter, randomized controlled phase III clinical trial in Stages II and III colon cancer patients with active specific immunotherapy (ASI) using autologous tumor cells with an immunomodulating adjuvant bacillus Callmette-Guerin (BCG) vaccine (OncoVAX) in an adjuvant setting. In this study, patients were randomized to receive either OncoVAX therapy or no therapy after surgical resection of the primary tumor and stratified by stage of disease. Since the biologic essence of the effective tumor immunotherapy is the presence in the vaccine of a minimum number of viable, metabolically active, autologous tumor cells, the processing of the vaccine product, occurred within 48 h after surgery. Analysis of prognostic benefit in the pivotal phase III trial, with a 5.8 year median follow-up, showed that a beneficial effect of OncoVAX is statistically significant for all endpoints including recurrence-free interval, overall survival, and recurrence-free survival in Stage II colon cancer patients. Surgery alone cures approximately 65% of Stage II (Dukes B2, B3) colon cancer patients. In the remaining patients, OncoVAX in an adjuvant setting, significantly prolongs recurrence-free interval (57.1% relative risk reduction) and significantly improves 5-year overall survival and recurrence-free survival. No statistically significant prognostic benefits were achieved in Stage III (Duke's C1-C3) patients. A health economics assessment was performed on these results in Stage II colon cancer patients using disease-free survival and overall survival (for the entire intent-to-treat population). Cost-effectiveness, cost-utility and sensitivity analysis were applied with, cost of life years, recurrence-free life years and quality adjusted life years (QALYs) as the primary endpoints to this analysis. The perspective of the economic analysis was the current direct medical cost established by the health care providers. The introduction of new technologies often leads to additional costs. This report verified that the use of OncoVAX for patients with Stage II colon cancer not only has significant prognostic benefit and positive clinical outcomes, but also showed that OncoVAX therapy yields impressive health economics benefits.
Adult↗
Economic evaluation of the administration of follitropin-beta with a pen device.
Previous studies suggest that administration of follitropin-beta with a pen device (Puregon Pen(R)) is more convenient, less painful and 16-18% more efficient. The aim of this study was to perform an economic evaluation of the administration of follitropin-beta by this pen device against follitropin-alpha by multidose and highly purified (HP) HMG by conventional syringe in IVF treatment by comparing the process utilities and the costs for the Dutch setting. Conjoint analysis assessed the process utilities for the three administration modes on a scale from 0 to 1. A decision analytic model estimated the costs of an average IVF cycle from a societal perspective. Patients estimated the process utility at 0.96 for the pen, 0.53 for the multidose and 0.36 for the conventional syringe. Additional costs were estimated at 0 Euros and 194 Euros, comparing the pen with multidose or conventional methods respectively. Assuming a 16% efficiency gain of the pen, costs ranged from Euros-135 (savings) to 60 Euros (extra costs). In conclusion, patients perceive sufficient benefits to the pen device to choose it over other dosing methods. Dominance of the pen device over the multidose method was shown. Compared with the conventional administration method, the added value of the pen device was 2.7 (0.96/0.36) times higher.
Adult↗
Assessing the applicability of scoring systems for predicting postoperative nausea and vomiting.
We have validated two scoring systems for predicting postoperative nausea and vomiting, derived by Apfel et al. and Koivuranta et al. from 1388 adult inpatients undergoing a wide range of surgical procedures. The predictive accuracy of the scoring systems was evaluated in terms of the ability to discriminate between patients with and without postoperative nausea and vomiting (discrimination) and agreement between observed and predicted outcomes (calibration). Discrimination and calibration were less than expected based on previous reports, with both scoring systems providing risk predictions that were too extreme. The area under the ROC curve was 0.63 for Apfel et al.'s scoring system and 0.66 for Koivuranta et al.'s scoring system. Neither of the scoring systems provided a risk threshold for administering anti-emetic prophylaxis that yielded satisfying results in terms of predictive values, sensitivity and specificity. Hence, in their original forms, the scoring systems do not guarantee accurate prediction of the risk of postoperative nausea and vomiting in other patient populations. Koivuranta et al.'s scoring system appears to be more robust across different populations.
Antiemetics↗
Preferences of cardiologists and clinical geneticists for the future organization of genetic care in hypertrophic cardiomyopathy: a survey.
In view of the increasing demands for genetic counselling and DNA diagnostics in cardiogenetics, the roles of cardiologists and clinical geneticists in the delivery of care need to be redefined. We investigated the preferences of both groups of professionals with regard to the future allocation of six cardiogenetic responsibilities in counselling and testing, using hypertrophic cardiomyopathy (HCM) as a prevalent model disease. In this cross-sectional survey, the participants were Dutch cardiologists (n = 643) and clinical geneticists (n = 60), all members of professional societies. Response rates were 33 and 82%, respectively. In both groups, the majority preferred to perform most of the tasks described above in collaboration. Informing HCM patients about the genetics of HCM and requesting DNA testing in symptomatic patients was viewed by 43 and 35% of cardiologists, respectively, as their sole responsibility, however, and 39 and 59% of clinical geneticists did not object to these views. Both groups felt that the task of discussing the consequences of HCM for offspring and that of discussing the results of DNA diagnostics should be shared or performed by clinical geneticists. Both groups considered co-ordination of family screening the sole responsibility of clinical geneticists. Opinions on who should request DNA diagnostics in asymptomatic relatives were divided: 86% of clinical geneticists considered it their exclusive responsibility, 10% of cardiologists believed that this task could be performed individually by either group and 30% preferred to collaborate. Most professionals said that they would appreciate education programmes and clinical guidelines. Both cardiologists and clinical geneticists prefer to share rather than divide most cardiogenetic responsibilities in caring for HCM patients. Consequently, capacity problems in both groups are to be expected. To safeguard current professional standards in genetic counselling and testing, deployment of non-medical personnel might be essential.
Attitude of Health Personnel↗
[The determinants of the high Dutch perinatal mortality in a complete regional cohort, 1990-1994].
OBJECTIVE: Analysis of the effects of population-based determinants (maternal age, parity, multiple pregnancy and ethnicity) and of professional and organisational factors (conservative management in case of early preterm birth, the policy on prenatal screening and the Dutch obstetric-care system in general) on perinatal mortality. DESIGN: Population-based prospective cohort study. METHOD: In a regional cohort (Zaanstreek) of 8031 pregnancies in the period 1990-1994 data were prospectively collected in an electronic database by deliverers of primary and secondary care. Analysis focussed on the effect on perinatal mortality of maternal age, parity, multiple pregnancy, ethnicity and professional and organisational factors (the policy in case of early preterm birth, the policy on prenatal screening and the Dutch obstetric-care system in general). Perinatal mortality was defined as mortality from a gestational age of 22 weeks until 28 days post partum. RESULTS: The perinatal mortality in the Zaanstreek was 12.6/1000. Increasing the gestational age to 28 weeks decreased the perinatal mortality by 29%. The perinatal mortality in this cohort was significantly affected by parity, multiple pregnancy and maternal age (relative risk: 2.8), but not by ethnicity if corrected for the previous factors. Conservative management in case of early preterm birth and a restrictive screening policy for lethal birth defects were associated with an increase in perinatal mortality. In 31 of 92 singleton pregnancies followed by perinatal mortality, a relationship to substandard care was established. In 7 cases this relationship was probable and in 1 case the midwife was responsible. CONCLUSION: Given the magnitude of their effects, both independently and via interaction, stratification for maternal age, parity, multiple pregnancy and ethnicity must precede any interpretation and comparison of perinatal mortality rates. Although clinical policy played a modest role, a negative role of the organisation of obstetric care was unlikely in this cohort. A definitive judgement as to the quality of perinatal care would require extension of the evaluation to at least the entire first year of life in connection with the morbidity. The most favourable effects can be expected from stimulatory measures directed at lowering the age at first pregnancy.
Cohort Studies↗
Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage.
BACKGROUND: The annual number of parental karyotypes in cases of repeated miscarriage is increasing gradually in The Netherlands. The efficiency of offering parental karyotyping in couples with repeated miscarriage has not been evaluated before, especially not for the group with miscarriages at advanced maternal age. METHODS: A historical cohort study and nested case-control study were conducted, including couples with at least two miscarriages. Data were retrieved from medical records and telephone interviews. The obstetric follow-up was recorded for > or =2 years after the parental chromosome analysis. Data were analysed to compare ratios of carrier/non-carrier couples in whom maternal age was > or =36 or <36 years at the second, third or fourth and more miscarriage. A projected prevalence of carrier status of a structural chromosome abnormality was calculated by extrapolating the number of included patients to the original level of the total screening population. RESULTS: Forty-one couples with carrier status of a structural chromosome abnormality and 74 couples without carrier status were included. No unbalanced offspring arose after the detection of a structural chromosome abnormality. The risk of being a carrier was not significantly lower (as might be expected) when women were > or =36 years. Ascertainment after two, three, or four and more miscarriages did not change these findings. CONCLUSIONS: Karyotyping of 1324 couples ascertained for repeated miscarriage did not yield an unbalanced fetal chromosome pattern after the ascertainment of parental carrier status. In women with advanced maternal age, the frequency of carrier status was not lower than in younger women.
Abortion, Habitual↗
Disappearance of enlarged nuchal translucency before 14 weeks' gestation: relationship with chromosomal abnormalities and pregnancy outcome.
OBJECTIVE: The aim of this study was to investigate the natural course of enlarged nuchal translucency (NT) and to determine if its disappearance before 14 weeks' gestation is a favorable prognostic sign in relation to fetal karyotype and pregnancy outcome. METHODS: A total of 147 women with increased NT (> 95th centile) at first measurement were included in this study. A second measurement was performed in all cases, at an interval of at least 2 days. Both measurements were taken between 10 + 3 and 14 + 0 weeks. All women underwent chorionic villus sampling or amniocentesis for subsequent karyotyping. In those women with a normal karyotype, a fetal anomaly scan was performed at 20 weeks' gestation. Pregnancy outcome was recorded in all cases. The finding of persistent or disappearing NT enlargement was analyzed in relation to fetal karyotype and pregnancy outcome. RESULTS: Of the 147 paired measurements, NT remained enlarged at the second measurement in 121 (82%) cases. An abnormal karyotype was found in 35% of these cases. In 26 (18%) fetuses the NT measurement was found to be below the 95th percentile at the second measurement and in only two of them an abnormal karyotype was found (8%). In the 103 chromosomally normal fetuses an adverse outcome (i.e. fetal loss or structural defects) was recorded in 22 fetuses with persistent enlargement (28%) and in four fetuses with disappearing enlargement (17%). CONCLUSIONS: Disappearance of an enlarged NT before 14 weeks' gestation is not a rare phenomenon and seems to be a favorable prognostic sign with respect to fetal karyotype. Overall, no significant difference in pregnancy outcome was found between chromosomally normal fetuses with persisting or disappearing NT enlargement.
Abortion, Spontaneous↗
[Possibilities for anonymous follow-up studies of patients in Dutch national medical registrations using the Municipal Population Register: a pilot study].
OBJECTIVE: To examine the feasibility of using information from the Dutch Municipal Population Register (Dutch acronym: GBA) to anonymously track groups of patients. DESIGN: Exploratory. METHOD: Using a random sample from the Dutch National Medical Register (Dutch acronym: LMR), hospital admission with discharge in January 1996, it was determined to what extent the admission records could be linked to the GBA. The following variables were used in the linking process: date of birth, gender and the numerical part (4 digits) of the postal code. Once a record had been linked to a single record in the GBA, the pattern of moving and mortality over the next two years was investigated. RESULTS: Of the 124,598 different hospitalisation records in the LMR cohort, 84% could be linked with a single record in the GBA. In 11% of the patients no unique link was possible: one hospital record could be linked to several records in the GBA. No matching record could be found for 5% of the patients; some of these were foreign citizens resident in the Netherlands. Two years after discharge, the cumulative mortality was 44% for cancer patients, 28% for patients with acute myocardial infarction, 57% for patients with heart failure and 20% for patients with respiratory diseases. Eleven percent of the patients moved within the two-year period following discharge. This would have caused a considerable bias in the aforementioned mortality rates, if the patients' migration had meant that they could no longer be followed. CONCLUSION: The introduction of the GBA has significantly increased the possibilities for following patients within and between registries. A prerequisite for this is a unique and correct identification of an individual within the GBA.
Adolescent↗
Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia.
The aim of this article is threefold. First, we describe the accuracy of people's risk perception who have been screened on familial hypercholesterolemia (FH) in a family-based screening program. Second, we identify factors that modify risk perception. Finally, we show the influence of risk perception on subsequent preventive behavior. The risk perception of 556 screenees (677 participants, overall response = 82%) was measured by postal questionnaires on three occasions: at screening and 3 days and 7 months after the test result was reported to the patient. Presentation of the risk was precategorized and given both as numerical (1 in x) and as verbal probability. In addition, medication use and attitudes toward gene therapy were determined 7 months after screening. On average, the screenees underestimated their numeric risk of having FH and getting a myocardial infarction (MI). Furthermore, FH-positive screenees perceived that they were at greater risk of MI than FH negatives, and screenees with the highest actual risk used medication more, perceived a greater risk, and opted more often for future gene therapy. Risk perception of having FH was influenced by cholesterol level, while MI risk perception was affected by age, education, cholesterol level, and cardiovascular disease (CVD) in the family. We conclude that FH-positive screenees correctly perceive a higher risk of getting a heart attack than do FH-negative screenees. Screenees did not believe that MI was inevitable, and risk perception was associated with both medication use and the intention to opt for gene therapy, but not with other preventive measures. Thus, genetic risk notification seems to be acceptable and does not lead to aversion to preventive behavior.
Adolescent↗
Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era?
AIMS: Genetic scientific knowledge is growing rapidly but how this affects clinical practice is unclear. We investigated the levels of knowledge, practical skills and clinical genetic practices of Dutch cardiologists. METHODS AND RESULTS: A survey was designed to assess cardiologists' experience with genetic aspects of hypertrophic cardiomyopathy, self-reported genetic knowledge, and genetic skills in general and aimed at this disease. In addition, cardiologists' opinions on five possible measures for improvement were obtained. STUDY POPULATION: all Dutch cardiologists (n=643). Median number of patients suffering from hypertrophic cardiomyopathy per cardiologist is five. Forty-one percent of respondents do not give information about genetics to all their patients. Cardiologists rarely initiate DNA tests for hypertrophic cardiomyopathy. Only 38% refer patients to clinical geneticists. Self-reported knowledge levels are low (average score 3.3-5.1, 0-10 scale). Cardiologists with an established working relationship with a clinical geneticist report significantly higher levels of knowledge. Clinical guidelines, education and improved collaboration with clinical geneticists are preferred. CONCLUSION: Dutch cardiologists' genetic knowledge and clinical genetic practice levels are insufficient. As a result, clinical genetic care for patients with hypertrophic cardiomyopathy is poor. Improvements proposed include advancement of knowledge (education, professional guidelines) and structural measures (working relationships, multidisciplinary outpatient clinics). Collaboration of cardiologists and clinical geneticists is urgently needed to optimise cardiogenetic patient care.
Adult↗
Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants.
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Adolescent↗
[The budget control function of the Drug Reimbursement System].
We now have 10 years of experience with the Dutch Price Reference System (Dutch acronym GVS), which was instituted in order to reduce the growth of extramural pharmaceutical costs to 4.1% annually, assuming no loss of medical quality. The system focussed mainly on budget control rather than on increasing cost-effectiveness by substitution. The budget-control aims were not achieved. As epidemiological and demographic developments would account for about 3% annual budget growth given an unchanged individual consumption of pharmaceuticals, the 4.1% criterion left only 1% room for autonomous growth (price, volume). The current 8% average annual growth rate indicates 5% autonomous growth. This rate is low, however, compared to other European countries, where a number of autonomous growth factors are not systematically counterbalanced at the product level by substitution incentives and control over prices and indication by health-care authorities and health-insurance companies. The GVS and related administrative measures have therefore most likely exerted a significant budget-controlling influence. The current policy of the Dutch Ministry of Health, Welfare and Sports in terms of goals, actors' roles and incentives fits well with the GVS, which should therefore be continued.
Cost Control↗
[Class substitution as an instrument of efficiency in the supply of medicines: possibilities and limitations].
Class substitution is the substitution of a drug by another cheaper drug from the same pharmacological drug class to save costs. This principle is applied in drug formularies and reference-based drug-pricing systems. Class substitution should not only consider similarities in pharmacological mechanisms of action but should also assess whether the different drugs within the class are equivalent at a population level with respect to efficacy, effectiveness, applicability, and safety. The implementation of class substitution requires protocols as well as a monitoring system to evaluate compliance with the protocols and their effects on drug costs. In addition, specific studies are needed to establish whether undesirable effects occur at the patient level.
Adverse Drug Reaction Reporting Systems↗
Reliability and validity of the child health questionnaire-child form (CHQ-CF87) in a Dutch adolescent population.
UNLABELLED: Feasibility, reliability, and discriminative validity of the cross-culturally adapted Dutch version of the originally US child health questionnaire-child form (CHQ-CF87), an 87-item generic pediatric health-related quality of life instrument, were assessed. The success criterion in this first evaluation was the equivalence of psychometric properties of the adapted and the original CHQ. A total of 466 schoolchildren (9-17 years) were invited to complete the questionnaire in the classroom. Test-retest reliability was measured after 14 days in a subgroup (n = 71). Response was 96%. Four scales had ceiling effects (>50%), as was reported in an Australian study. Cronbach alpha-values were adequate (>0.70), except for 'physical functioning' (0.56). Test-retest correlations, not previously reported, were not statistically significant for two CHQ-scales, whereas average retest scores indicated better health for five scales (p < 0.01). The CHQ scales discriminated significantly (p < 0.01) between children without (n = 281) and children with two or more self-reported chronic diseases (n = 59). This is in correspondence with US and Australian reports. CONCLUSIONS: The current data support application of the Dutch CHQ-CF in predominantly healthy populations, e.g. in school settings. Given the limitations of this study and some less favorable results (score distributions, internal consistency, test-retest reliability), further evaluation of the CHQ-CF is recommended, preferably by analyses of item performance and scale validity in international data sets that include varied clinical subgroups.
Adolescent↗