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Leo P ten Kate

Publications and source records attributed to Leo P ten Kate.

16 recordsLinked to original sources
PubMed2006

Segregation ratio in cranio-cerebello-cardiac syndrome.

According to several authors cranio-cerebello-cardiac (3C) syndrome is an autosomal recessive disorder. This opinion was based on pedigree inspection without formal segregation analysis. Recently, the assumption of autosomal recessive inheritance was challenged by the observation of overlapping features with 6p deletions. We therefore performed segregation analysis by means of methods described by Li and Mantel, Davie and Lange on 27 pedigrees selected from literature. The results of all three methods are consistent with autosomal recessive inheritance but their broad confidence intervals leave room for other explanations as well. Reporting of 3C cases without evaluation of 6p copy number should be discouraged from now on.

Craniofacial Abnormalities↗
PubMed2006

Does prenatal screening influence anxiety levels of pregnant women? A longitudinal randomised controlled trial.

OBJECTIVES: Questions addressed are: (1) Does offering prenatal screening increase anxiety? (2) Does receiving a negative screening result make women less anxious and does a positive screening result make women more anxious? (3) What are the long-term consequences on anxiety of offering screening and receiving a screening result? METHODS: Women were offered prenatal screening or no screening in a randomised controlled trial. State anxiety (STAI) and child-related anxiety (PRAQ-R) were measured. Questionnaires were filled in before prenatal screening was offered (T1), after the offer (T2), after the test result (T3), and in the third trimester of pregnancy (T4). RESULTS: Child-related anxiety levels were higher in women who chose to be screened compared to women who declined screening. Offering prenatal screening did not lead to increased anxiety levels. General anxiety increased in positively screened women, but decreased later in pregnancy. Women who were negatively screened or declined screening scored lower than the control group. CONCLUSION: For most women, offering prenatal screening and receiving the test result do not adversely affect anxiety. Giving pregnant women a choice to have prenatal screening done seems to have a small favourable effect on general feelings of anxiety.

Adult↗
PubMed2005

Informed decision making in the context of prenatal screening.

OBJECTIVE: This study aimed to construct a measure of informed decision making that includes knowledge, deliberation, and value-consistency, and to assess the level of informed decision making about prenatal screening, and differences between test acceptors and test decliners. METHODS: Women attending one of 44 midwifery and gynaecology practices were asked to fill out postal questionnaires before and after the prenatal screening offer. The principal outcome was the level of informed decision making. For this purpose, knowledge about prenatal screening, deliberation about the pros and cons of the alternatives, test uptake, and attitude towards having a prenatal screening test were measured. RESULTS: Eighty-four percent of the participants were sufficiently knowledgeable about prenatal screening, 75% of the decisions were deliberate, and 82% were value-consistent. Fifty-one percent of the participants made an informed decision. Test acceptors made less informed decisions as compared to test decliners. This difference was mainly caused by the lower rate of deliberation in this group. CONCLUSION: It appears from this study that prenatal screening decisions are often not informed decisions. This is inconsistent with the main objective of offering screening, which is to enable people to make informed decisions. PRACTICE IMPLICATIONS: Decision makers should be encouraged during the counselling to deliberate about the various alternatives.

Algorithms↗
PubMed2005

Community genetics: a bridge between clinical genetics and public health.

Clinical genetics and public health differ in their subjects; in who takes the initiative; in their aims, methods and outcome measures, and therefore in their ability to handle sensitive issues. They are seemingly incompatible. Nevertheless, they can be reconciled in community genetics. Community genetics combines the best from clinical genetics and public health. It shares with clinical genetics its aim of empowerment, its methods of information and support, its outcome measures and its possibility to handle sensitive issues. It has in common with public health its subjects; the origin of its initiatives, and non-reproductive prevention. In general, communities can be defined at different levels: geographically, linguistically, socially or genetically. Genetic communities can also be defined at different levels: on the basis of common heritage, on the basis of common practice, or on the basis of common problems.

Genetic Predisposition to Disease↗
PubMed2004

The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas.

By affected sib-pair linkage analysis of 24 families with pre-eclampsia, we confirm a susceptibility locus on chromosome 10q22.1 in Dutch females: a multipoint non-parametric linkage score of 3.6 near marker D10S1432 was obtained. Haplotype analysis showed a parent-of-origin effect: maximal allele sharing in the affected sibs was found for maternally derived alleles in all families, but not for the paternally derived alleles. As matrilineal inheritance suggests the presence of maternally expressed imprinted genes, while imprinting operates predominantly in (extra)embryonic tissues, all genes (n=132) known on 10q22 between GATA121A08 and D10S580 were screened for seven sequence-related features associated with imprinting and subsequently tested for expression in first trimester placenta. Placental expression of genes selected in this way (n=55) was compared with expression in androgenetic placentas of identical gestational age. Two regions on 10q22 were identified with developmentally co-repressed genes with non-random chromosomal distribution. Interestingly, these two clusters, near CTNNA3 and KCNMA1 and each containing five genes with down-regulated expression in androgenetic placentas, coincided with the regions with maximal maternal allele sharing seen in the pre-eclamptic sisters. Our linkage and expression data are compatible with the concept that pre-eclampsia involves maternally expressed imprinted genes that operate in the first trimester placenta.

Alleles↗
PubMed2004

Preconceptional cystic fibrosis carrier screening: opinions of general practitioners, gynecologists, and pediatricians in the Netherlands.

Knowledge of the opinions of physicians with regard to preconceptional cystic fibrosis (CF) carrier screening and the possible factors that are associated with their opinions is important for the implementation of such a screening program. Data were obtained from a study in which genetic knowledge, opinions with regard to genetic testing and related skills were investigated. A questionnaire, developed and used by American researchers, was adapted to the Dutch health care situation, and sent to randomly selected general practitioners (GPs) (n = 200), gynecologists (GYNs) (n = 300), and pediatricians (PEDs) (n = 265). In this part of the study, their opinions with regard to genetic preconceptional CF carrier screening in different situations were assessed. The response rate for the GPs, GYNs, and PEDs was 64%, 69%, and 72%, respectively. In total, 63% of the GPs, 69% of the GYNs and 72% of the PEDs supported preconceptional CF carrier testing if a couple requested a test. Sixteen percent, 19% and 25%, respectively, were in favor of actively offering a test with 95% test sensitivity to all couples who were planning a pregnancy. A positive opinion on preconceptional CF carrier screening was associated with the following variables: "considering the test sensitivity as less important" (GPs, GYNs), "high perceived risk of having a child with CF" (GYNs), "providing genetic counselling in their own practice" (PEDs) and "reassurance when both partners test negative" (PEDs). Physicians are sympathetic toward preconceptional CF carrier screening if the couples themselves request a test. Physicians had reservations about routinely offering a CF carrier test.

Adult↗
PubMed2004

Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population.

The aim of this study was to assess the attitudes and intentions of individuals planning a pregnancy with regard to preconceptional cystic fibrosis (CF) carrier screening and to determine factors associated with a positive and negative/neutral intention to have the test. A survey, based on a questionnaire, was conducted among a stratified random sample of 303 recently married couples (606 individuals). Of the eligible individuals, 70% (n = 380) participated. Of the respondents, 73% had a positive attitude toward a routine offer of preconceptional CF carrier screening, and 56% had the intention to participate in a screening program. A positive intention to have the test was associated with high perceived anticipation of regret, intended preconceptional behavior, high perceived pressure from experts, high perceived consequences of the test results, low perceived barriers, and low perceived negative consequences for family members. These results suggest that the offer of routine preconceptional CF carrier screening would lead to substantial acceptance among couples planning a pregnancy. Several variables related with intention were identified.

Adult↗
PubMed2003

Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome.

Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, genital abnormalities, and typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, orofacial clefts, and small mouth. Until now at least 23 cases with this syndrome in 11 families were described, mostly from Mediterranean origin. We report on two Dutch families with six affected children having BPS. One of the patients was prenatally diagnosed by ultrasound examination. Additional unreported findings were omphalocele and aplasia of the urethra. The intrafamilial resemblance in severity is of importance for the genetic counseling of families and prenatal detection by ultrasound. We discuss possible pathogenic mechanisms and review similar cases from the literature.

Abnormalities, Multiple↗
PubMed2003

Comparison of activities and attitudes of general practitioners concerning genetic counseling over a 10-year time-span.

The aim of this study was to investigate whether the activities and attitudes of general practitioners (GPs) concerning genetic counseling have changed between 1989 and 1999. In 1989 a random sample of 124 GPs in The Netherlands was selected. Of these GPs, 98 were contacted again in 1999 and 71 completed the questionnaire. The study showed an increase in the percentage of GPs who provided genetic counseling when a risk factor for having a child with a congenital disorder was present and known. In both 1989 and 1999, the GPs seldom used a recommended combination of oral and written information, and only data that was available in the databases on the risk indicator 'use of medication' increased over the years. GPs are still supporters of a directive method of counseling, and seem to believe that the main goal of genetic counseling is to prevent hereditary and congenital disorders. Although, between 1989 and 1999 more GPs provided genetic counseling when a risk indicator was present and known or referred to a clinical geneticist, only limited improvement was found in the activities of GPs to attempt to collect these data.

Attitude of Health Personnel↗
PubMed2003

Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services.

OBJECTIVE: To investigate the feasibility and acceptability of different modes of offering preconceptional carrier screening for cystic fibrosis (CF) in the absence of established preconceptional care services. METHODS: Individuals aged 20-35 years were invited by mail, either by the Municipal Health Services (MHS) or by their own general practitioner (GP) to participate in a screening program with their partner. Pretest education was provided either during a group educational session or during a GP consultation. The reasons given by participants and nonrespondents for (not) responding to the invitation for screening, sociodemographic characteristics, and their attitudes were assessed by means of questionnaires. RESULTS: Of 38,114 individuals who received a first invitation, approximately 20% had a partner with whom they were planning to have children. The response rate, as measured by attendance at either a group educational session or a GP consultation, was not affected by whether the letter was sent by the MHS or the person's GP. However, the response rate was about 2.5 times higher when the letter invited people to make an appointment with their GP for a consultation regarding CF carrier screening than when it invited them to attend an educational group session. A total of 559 couples (96%) consented to have the test after education. Repetition of the invitation increased the response. The main reason given by couples for not responding was "lack of time to attend" or "forgot about it" (48%). Another reason given was that they did not want to know their test results (28%). Eighty-nine percent of participants and 69% of nonrespondents believed that screening should be offered routinely to couples planning to have children. The GPs consulted (n = 18) reported no negative experiences, but due to the extra workload, 11 of them would not consider it to be part of their task. CONCLUSIONS: Among couples planning to have children, there is generally a positive attitude towards routinely offering population-based CF carrier screening. Preconceptional CF carrier screening appeared feasible, both in terms of practical achievements and target group accessibility. Participation varied according to the pretest education setting, with the primary care setting producing the highest rate of attendance.

Adult↗
PubMed2003

How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population.

BACKGROUND: Since the identification of the cystic fibrosis (CF) gene, large-scale CF carrier screening has become possible. One possible target group is couples planning a pregnancy (preconceptional screening), providing a maximum number of reproductive options and a minimum of time constraints. OBJECTIVES: To identify obstacles in the implementation of a preconceptional CF carrier screening programme, to find out how potential providers and the target population think the screening should be implemented, and to determine whether potential providers think they are able to provide the screening programme. METHODS: A survey was conducted among 200 general practitioners (GPs), 134 Municipal Health Service (MHS) workers and 303 recently married couples. RESULTS: 52% (102/197) of the eligible GPs participated, 84% (113/134) of the MHS workers and 70% (380/544) of the individuals planning a pregnancy. In general, potential providers and the target population had a positive attitude towards CF screening. Preferred methods of informing the target population were: in leaflets, during a GP consultation for those people seeking advice before pregnancy, and sending a personal invitation to all people of reproductive age. Potential providers believed that they would be able to provide the screening programme. Important perceived obstacles were the absence of a preconceptional care setting, high workload, and lack of financial resources. CONCLUSION: Different intervention strategies will be necessary to overcome the obstacles in the implementation. The positive attitude towards CF carrier screening in combination with the willingness of the potential providers to participate in the screening programme will make it easier to overcome the obstacles.

Adult↗
PubMed2002

Searching for preeclampsia genes: the current position.

Although there is substantial evidence that preeclampsia has a genetic background, the complexity of the processes involved and the fact that preeclampsia is a maternal-fetal phenomenon does not make the search for the molecular basis of preeclampsia genes easy. It is possible that the single phenotype 'preeclampsia' in fact should be divided into different sub-groups on genetic or biochemical level. In the present review, the preeclampsia phenotype and its pathophysiologic features are discussed. Family studies and postulated inheritance models are summarized. A systematic overview is given on the numerous candidate gene studies and gene-expression studies performed so far and on the currently available genome-wide scan data. Despite extensive research the molecular genetic basis of preeclampsia remains unclear. Future studies will hopefully enhance our insights in the molecular pathogenesis of preeclampsia.

Animals↗
PubMed2002

Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families.

This qualitative study explores the experiences of cystic fibrosis (CF) carrier couples, prospectively identified in CF families, and the impact of the resulting genetic risk on reproductive behavior. Of the 12 couples identified until 1997, seven couples participated in semistructured interviews and two couples filled in a questionnaire, two to eight years after receipt of the test-results. After receiving the results, most couples reported that they were shocked, because they did not expect to both be carriers. More anxiety was expressed by those who were pregnant (n = 4) at the time of testing. There were reported difficulties in disclosing the results to family members, and the reactions of family members were not always supportive. After testing, some couples had problems with reproductive decision-making. All viable pregnancies (17 in 8 couples) were monitored by prenatal diagnosis; all affected pregnancies were terminated (6 in 4 couples). Couples who have live-born children after testing may subsequently have concerns during infancy about the correctness of the results of prenatal diagnosis and how to inform their children. Most couples did not regret the testing and, in general, the counseling was experienced positively, although some dissatisfaction was reported with regard to the psychological support received during pregnancy. Couples supported the idea of carrier screening in the general population, although various concerns were expressed. The results indicate a preference for testing before pregnancy. These findings may be useful in investigating possible dilemmas caused by the introduction of population carrier screening. Observations reported here might also apply to other recessively inherited disorders.

Cystic Fibrosis↗
PubMed2002

Linkage and association studies of IL1B and IL1RN gene polymorphisms in preeclampsia.

OBJECTIVE: To determine whether preeclampsia is either associated with or linked to two polymorphisms in the IL1B gene (IL1B-TaqI and IL1B-511) and one polymorphism in the IL1RN gene (IL1RN-IVS2). METHODS: Genotyping was performed in 150 affected sib-pair families and 104 healthy Dutch blood donors. Genotype and allele frequencies as well as allelic associations were assessed in three groups of unrelated women from these 150 families; 133 with either eclampsia, preeclampsia or the haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome, 101 with preeclampsia only, and 63 with HELLP syndrome only. These frequencies were compared to those in controls. Frequencies of transmitted and nontransmitted haplotypes, inferred from the three polymorphisms, were compared. Allele sharing between affected siblings from all 150 families was assessed by means of multipoint nonparametric affected sib-pair analyses. RESULTS: No significant differences in genotype and allele frequencies were found between the unrelated study groups and controls. No allelic associations were apparent, nor were there differences in frequencies of transmitted and nontransmitted haplotypes within affected families. Excess allele sharing for any of the three polymorphic markers was absent in affected sib-pairs. CONCLUSIONS: None of the IL1B and IL1RN polymorphisms provided evidence for either association or linkage with the risk for (pre)eclampsia/HELLP syndrome, preeclampsia only or HELLP syndrome only.

Female↗
PubMedDate not supplied

Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria.

Genetic screening programs should meet certain criteria before they can be introduced into the community. The aim of this study was to discuss pilot studies for cystic fibrosis (CF) carrier screening before and during pregnancy in the light of important genetic screening criteria. Overall, CF carrier screening meets the prerequisites that justify screening. However, more specific criteria for the development of screening programs were not always taken into consideration. Most project leaders concentrated on uptake as an important outcome, and less on informed decision-making. To further investigate the long-term psychological and social effects of genetic screening, continuous monitoring of screening projects is recommended.

Cystic Fibrosis↗