'And then you can decide'--antenatal foetal diagnosis decision making in South Africa.

BACKGROUND: Decision making is integral to genetic counselling and the premise is that autonomous decisions emerge if patients are provided with information in a non-directive manner. The pivotal activity in antenatal diagnosis counselling with at-risk pregnant women is decision making regarding invasive procedures. This process is not well understood in multicultural settings. OBJECTIVE: This study examined multicultural genetic counselling interactions with women of advanced maternal age (AMA). It aimed to investigate the participants' orientation towards the amniocentesis decision. DESIGN: Data were collected during 14 video-recorded consultations between six genetic counsellors and 14 women of AMA in a genetic counselling clinic in South Africa. The design was qualitative and conversation analysis was used for analysis. RESULTS: Analysis revealed that counsellors used several strategies to facilitate discussions and decision making. However, the invitation to make a decision regarding amniocentesis was not perceived as being neutral. Both the counsellors and the women appeared to treat the offer as one which should be accepted. This resulted in a paradox, as strategies intended to allow neutral discussion seem to achieve the opposite. It is suggested that these results may be linked to the local health-care setting. CONCLUSION: The results suggest that the understanding of decision-making processes and enhancing autonomy may require a more detailed investigation into psychosocial, political and historical factors in the local health-care setting. Models of practice as well as the training of genetic counsellors need to be sensitive to these influences. A closer examination of interactional variables may yield new and relevant insights for the profession.

The association between perceived emotional support, maternal mood, salivary cortisol, salivary cortisone, and the ratio between the two compounds in response to acute stress in second trimester pregnant women.

OBJECTIVE: Little is known about the effect of social support on the reactivity of the hypothalamic-pituitary-adrenal (HPA) axis during pregnancy. Moreover, when investigating the HPA axis most studies do not consider the activity of 11ß-hydroxysteroid dehydrogenase type 2 (11ß-HSD2), an enzyme within the salivary glands that inactivates cortisol to cortisone. This study explores the association between perceived emotional support and the maternal psychobiological stress response to a standardized naturalistic stressor by assessing maternal mood and the reactivity of salivary cortisol (SalF), salivary cortisone (SalE), and the SalE/(E+F) ratio as a marker of 11ß-HSD2 activity. METHODS: Repeated saliva samples and measures of maternal mood were obtained from 34 healthy second trimester pregnant women undergoing amniocentesis which served as a psychological stressor. The pregnant women additionally responded to a questionnaire of perceived emotional support and provided sociodemographic (e.g., maternal educational degree) and pregnancy-specific data (e.g., planned versus unplanned pregnancy). RESULTS: Perceived emotional support neither showed a significant effect on mood nor on the SalF or SalE response to stress. However, a moderately strong positive association was found between perceived emotional support and SalE/(E+F) (r=.49). Additionally, the final regression analysis revealed a significant negative relationship between educational degree, planned/unplanned pregnancy and SalE/(E+F). CONCLUSION: Findings suggest a higher metabolization of cortisol to cortisone in pregnant women with higher emotional support. In contrast, higher maternal education and unplanned pregnancy appear to be associated with decreased salivary 11ß-HSD2 activity. The current study emphasizes the importance of taking the activity of 11ß-HSD2 into account when examining SalF.

[Amniocentesis trainer: development of a cheap and reproducible new training model]. / Simulateur d'amniocentèse : intérêts et développement d'un nouveau modèle reproductible et économique.

Amniocentesis is the most common invasive procedure for prenatal diagnosis. It is essential to master this sampling technique prior to performing more complex ultrasound-guided interventions (cordocentesis, drain insertion). Training is a challenge because of the risks associated with the procedure, as well as the impact on the patient's anxiety. An amniocentesis simulator allows for safe training and repeats interventions, thus accelerating the learning curve, and also allows for periodic evaluation of proficiency. We present here a new, simple, and cost-effective amniotrainer model that reproduces real life conditions, using chicken breast and condoms filled with water.

[Assessment of anxiety, pain and its management in prenatal diagnosis procedures]. / Évaluation de l'anxiété, de la douleur, et de leur prise en charge dans les gestes de diagnostic anténatal.

UNLABELLED: Invasive prenatal diagnosis procedures are numerous and more or less painful and stressful. The purpose of this study was to investigate maternal perception of both anxiety and pain before and after amniocentesis (AC) or transabdominal chorionic villus sampling (CVS), to determine factors associated with pain and anxiety, and to evaluate the pain support. This is a prospective study evaluating the professional practices at CHRU of Lille between March and May 2009 with 132 AC and 22 CVS by aspiration. An original questionnaire has been elaborated in three parts: the first one fulfilled by patients before the procedure, the second one, after the procedure, and the last one by the medical team. Statistical comparisons have used the Chi(2) test, the Fisher exact test, the Student's t test and the U test of Mann Whitney. RESULTS: The anxiety level is high but does not differ between the two groups AC and CVS. CVS are more painful than AC (EVA 5.77 versus 3.07, P<0.0001). No predisposing factor for anxiety has been found. On the other side, procedures are more painful when they are long lasting, considered difficult by the medical team, when needles used are large, the number of needle insertions increases, puncture is performed along a side of the uterus, patients are anxious, and then procedure indication is an hygroma. Patients are satisfied in 98.7% of cases of the support of the medical team. Few drug treatments was prescribed (only 4.5%), however, patients are generally applicant. CONCLUSION: An analgesic, anxiolytic, or a relaxation technique can be proposed to anxious and applicant patients undergoing CVS. Technical conditions of the procedure are more difficult to improve, however, we should use if possible thinner needles, and avoid, wherever technically possible, the punctures on the lateral side of the uterus. Finally, further studies seem necessary for the evaluation of a treatment protocol.

Information and decision support needs of parents considering amniocentesis: interviews with pregnant women and health professionals.

OBJECTIVE: Our aim was to clarify and categorize information and decision support needs of pregnant women deciding about amniocentesis. BACKGROUND: Prenatal screening for Down's syndrome (implemented in routine practice) generates a quantifiable risk of chromosome abnormality. To increase certainty, chromosomal material needs to be obtained through amniocentesis or other diagnostic test. Amniocentesis carries risks of pregnancy loss. METHODS: Semi-structured interviews were conducted with health professionals and pregnant women who had considered amniocentesis. The data were qualitatively analysed using a two-step thematic content analysis. RESULTS: A sample of 17 health professionals and 17 pregnant women were interviewed. Professionals demonstrated little consensus regarding the miscarriage rate, the potential consequences of amniocentesis testing and the uncertainty associated with the tests. Furthermore, methods employed to communicate risks varied between professionals. Pregnant women reported heightened stress and anxiety. Twelve out of 17 women described the decision as complex and difficult to make while five participants were satisfied with the information and support provided. Women would have liked more information about the risks involved, the results, the consequences of an amniocentesis and associated emotional difficulties. Women highlighted the need for personalized information, presented in multiple ways, while remaining simple and unbiased. CONCLUSIONS: There is variation in the provision of information related to amniocentesis testing. The majority of pregnant women reported difficulties making a decision and identified dimensions of information and decision support where improvements were needed.

Ethnic and socio-economic differences in uptake of prenatal diagnostic tests for Down's syndrome.

OBJECTIVE: The objective of this study was to assess ethnic and socio-economic differences in the uptake of maternal age-based prenatal diagnostic testing for Down's syndrome by amniocentesis or chorionic villus sampling. STUDY DESIGN: The study population consisted of 12,340 women aged 36 years or over, who lived in a geographically defined region in the Southwest of The Netherlands and who gave birth to a live born infant in the period 2000-2004. Data were obtained from the Department of Clinical Genetics Erasmus MC and Statistics Netherlands. Logistic regression analyses were done to assess ethnic and socio-economic differences in uptake. RESULTS: The overall uptake of prenatal diagnostic tests was 28.5%. Women of Turkish and Caribbean origin participated in prenatal diagnostic tests equally or more often than Dutch women. Women of North-African origin and women from low socio-economic background had a lower uptake than others. Ethnic differences in uptake could not be attributed to differences in socio-economic background. CONCLUSIONS: Uptake of prenatal diagnostic tests for Down's syndrome in The Netherlands was low and varied among ethnic and socio-economic groups of advanced maternal age. The finding that women of Turkish and Caribbean origin participated in prenatal diagnostic tests equally or more often than Dutch women was unexpected. The low uptake among Dutch women may be related to the Dutch pregnancy culture. The finding that women of North-African origin and women from low socio-economic background had a lower uptake may be related to barriers in access to prenatal diagnostic tests.

Interrogating the dynamics between power, knowledge and pregnant bodies in amniocentesis decision making.

A common assumption is that women who decline prenatal testing distrust biomedicine and trust embodied/experiential knowledge sources, while women who accept testing trust biomedicine and distrust embodied/experiential sources. Another major assumption about prenatal testing utilisation is that women who are open to abortion will undergo prenatal testing while those who are opposed to abortion will decline testing. Yet, previous research has produced inconsistent findings as to what, if anything, distinguishes women who accept or decline the offer of prenatal diagnosis. Analysing interviews with 147 pregnant women, this paper questions these assumptions about the role of abortion views and pregnant women's relative trust in various knowledge sources on their decisions to accept or decline an amniocentesis offer after a positive result on an initial diagnostic screening. We found that pregnant women's attitudes toward different knowledge sources were equally, if not more, important factors than abortion views in affecting whether individual women accepted or declined amniocentesis. At the same time, our data reveal that the relationship between 'expert' and 'lay' knowledge sources is often complex and synergistic.

Attitude of women with IVF and spontaneous pregnancies towards prenatal screening.

BACKGROUND: Factors influencing a pregnant woman's decision to accept prenatal testing are largely undefined. Our study aimed to compare the acceptance rate of prenatal diagnosis in women who conceived through IVF or ICSI (cases) with that of women who conceived spontaneously (controls). METHODS: Retrospective chart review in Lebanon of all primiparas carrying singletons who were offered prenatal testing (triple screen/amniocentesis) from 2004-2007. The influence of IVF/ICSI on the acceptance of prenatal screening was evaluated. RESULTS: 336 pregnant women were offered prenatal testing (120 cases and 216 controls). Cases were less likely to perform prenatal testing compared with controls (52.5 versus 72.7%; P < 0.001). The rate of utilization of prenatal testing was independent of the infertility cause. Multiple logistic regression analysis revealed that women who conceived through IVF/ICSI [odds ratio (OR) 0.427, 95% confidence interval (CI) 0.252-0.724], those >or=35 years old (OR 0.184, 95% CI 0.102-0.329) and lower socioeconomic class (OR 0.339, 95% CI 0.197-0.584) were less likely to perform triple screen test, and women who conceived through IVF/ICSI (OR 0.354, 95% CI 0.131-0.958) and those of lower socioeconomic class (OR 0.113, 95% CI 0.033-0.403) were less likely to perform amniocentesis. CONCLUSIONS: There was a significant difference in acceptance rate of prenatal diagnostic testing between women who conceived through IVF/ICSI and those who conceived spontaneously. Women who conceived through IVF/ICSI were less likely to opt for prenatal diagnosis even after controlling for confounding variables.

Women as moral pioneers? Experiences of first trimester antenatal screening.

The implementation of innovative medical technologies can raise unprecedented ethical, legal and social dilemmas. This is particularly so in the area of antenatal screening, which is dominated by the language of risk and probabilities. Second trimester serum screening for Down's syndrome and neural tube defects has a well-established place in antenatal care. Increasingly, first trimester screening with biochemical and ultrasound markers is being proposed as advance on this, yielding higher detection rates of Down's syndrome at an earlier gestational age. This article explores the experiences of 14 women offered innovative first trimester screening, which takes place within the context of a detailed ultrasound scan. The study is set within the UK, where recent policy changes mean that the offer of screening for fetal anomalies, particularly Down's syndrome, will become a routine part of antenatal care and offered to all pregnant women. This paper focuses on the significance of the scan in first trimester screening, and some of the potential dilemmas for women that can result from this. It then discusses the ways in which women made their decisions about screening, in particular, their work as 'moral pioneers'. We found that the part played by the ultrasound scan in first trimester screening, particularly in relation to the higher-quality images now being obtained, has the potential to introduce new and novel ethical dilemmas for pregnant women. Although concerns have been raised about pregnant women viewing ultrasound scans as benign, many of the women reported having thought carefully through their own moral beliefs and values prior to screening. It seems that whatever other implications they may have, first trimester screening technologies will continue the tradition of pregnant women acting as 'moral pioneers' in increasingly complex settings.

The routine and the traumatic in prenatal genetic diagnosis: does clinical information inform patient decision-making?

With the increasing technical sophistication of medicine, clinicians' task of assuring patient informed consent is increasingly elusive. Taking the example of prenatal genetic testing, we examine efforts to communicate the complexities of genetic knowledge and risk calculation to patients. In this qualitative, descriptive study, we interviewed 50 clinicians and 40 patients, and observed 101 genetic counseling sessions. We found the clinicians and patients have different goals, purposes, and values regarding testing, which affect their clinical interactions. The information the clinicians provide patients reflects their clinical interest in identifying and controlling pathophysiology, while patients, in contrast, are most concerned with protecting and nurturing their pregnancy. We argue informed patient decision-making about prenatal testing options requires information that is responsive to patient interests. We recommend developing a shared decision-making approach, to facilitate the full participation of both clinicians and patients in the decision-making process.

Assessment of maternal anxiety levels before and after amniocentesis.

INTRODUCTION: To assess anxiety levels in mothers before and after undergoing amniocentesis. The secondary aim was to see how counselling by nurse-counsellors affected maternal anxiety levels. METHODS: A prospective study was carried out from February 2000 to August 2000 at the Kandang Kerbau Women's and Children's Hospital in Singapore. We used standard statistical analysis and Spielberger's state-trait anxiety inventory (STAI), that consisted of 40 items, to assess anxiety levels. Anxiety levels were assessed at different stages: before and after counselling; before amniocentesis and after amniocentesis; when results were disclosed; and after the routine 20-week screening ultrasound scan was acknowledged four to six weeks later. English-speaking women were recruited for the study as the STAI questionnaire has only been validated for an English-speaking population. 195 at-risk mothers (advanced maternal age, abnormal nuchal translucency on ultrasound scan, previous abnormal baby and high-risk maternal serum screening results) and patients requesting for amniocentesis between 15 to 20 weeks gestation were recruited. RESULTS: 156 mothers agreed to amniocentesis. 38 mothers declined amniocentesis. S-anxiety levels declined significantly after counselling by trained nurse-counsellors in all mothers counselled. S-anxiety levels were highest and significantly higher compared to all other times just prior to amniocentesis despite counselling. Anxiety levels were the lowest and significantly lower compared to all other times at the last assessment stage. CONCLUSION: High level of anxiety prior to amniocentesis despite counselling is understandable due to the invasive nature of the procedure. There is no long-lasting post-procedural anxiety to the mother.

Strategies for motivating Latino couples' participation in qualitative health research and their effects on sample construction.

Many investigators report difficulties recruiting low-income Latinos into health research projects, especially when they seek to enroll more than one family member. We developed a series of strategies that proved effective in motivating candidates who were initially reluctant to enroll. There is a possibility that these strategies biased the composition of the sample. Predictably, the reasons participants gave for enrolling were correlated with the recruitment strategy that had brought them into the study. Furthermore, we found statistically significant associations between recruitment technique and key study variables (e.g., the domestic stability of the couple). By increasing investigators' ability to recruit Latinos, however, the strategies outlined should help to ensure that Latinos' experiences are given due weight in the deliberations of medical professionals and policymakers.

What price information? Modelling threshold probabilities of fetal loss.

This paper is an extension of previous work in which an alternative method of measuring the benefits of antenatal screening was proposed. The method is based on the elicitation of threshold probabilities of fetal loss at which women would be indifferent between having and not having an amniocentesis for the prenatal diagnosis of fetal abnormalities. The aim of this paper is to extend the previous work by modelling the preferences of a larger sample of women and investigating the consistency and validity of their responses. The threshold probabilities are elicited using standard gambles and modelled using Tobit estimation. The results indicate that it is possible to model these probabilities in this way and that it is possible to obtain a high degree of consistency in response to standard gamble questions. While establishing the validity of the responses is more difficult there is some evidence that the technique can provide valid responses.

Use of decision analysis to evaluate patients' choices of diagnostic prenatal test.

Women with a family history of a chromosomal or genetic abnormality must weigh several factors in choosing between amniocentesis and chorionic villus sampling. We compared the prenatal test choices of three such women with those of decision analytic models that incorporated their preferences. Patient preferences were assessed using visual linear rating scales. Threshold analysis was used to determine preference ranges, and stochastic sensitivity analysis to provide confidence levels, for each choice of test. The test choices of patients and decision analytic models agreed in one case, and disagreed in two cases. In one of the latter two cases, stochastic and threshold analyses showed the disagreement to be slight; for small shifts in preference differences for first- vs. second-trimester diagnosis, or first- vs. second-trimester therapeutic abortion, patient and decision model would have agreed. In the other, stochastic analysis showed their differences to be large; there were no thresholds for early diagnosis, or for early therapeutic abortion, that would have led to agreement between patient and model. In the two cases in which patient and decision model agreed or slightly disagreed, the patients had made their own choice of prenatal test. In the case in which patient and decision model strongly disagreed, the patient's physician had shared in the choice of test. Decision analysis can be useful in analyzing prenatal test choices based on individual preferences for pregnancy outcomes. When choices of patients and decision models do not agree, examination of the locus of decision making (patient vs. physician) may help resolve apparent differences.

Reasons for women's non-uptake of amniocentesis.

More than 10 years after a chromosomal anomaly screening programme was set up in France for pregnant women of advanced age, amniocentesis is still a controversial issue. The reasons why eligible women did not utilize the test and whether or not the existence of social welfare coverage determined women's access to prenatal diagnosis were studied. A group of 291 women aged > or = 35 years who recently gave birth to normal liveborns was interviewed by telephone. Among those aged 38 years and over, who automatically qualified for social security coverage, 75 per cent had undergone amniocentesis as opposed to 23 per cent in the 35 to 37-year-old non-covered age group who did not qualify for social security coverage. In both groups, access to amniocentesis was found to depend on the physicians', women's and male partners' attitudes towards prenatal diagnosis and abortion. Among the younger group, the uptake depended mainly on socio-economic factors. Institutional policies should ensure greater equality of access while allowing for individual preferences.

A cost-effectiveness analysis of amniocentesis and chorionic villus sampling for prenatal genetic testing.

Amniocentesis and chorionic villus sampling are tests for the prenatal diagnosis of cytogenetic abnormalities. We calculated the incremental costs per abnormal birth averted, and the incremental costs per quality-adjusted outcome, of amniocentesis and chorionic villus sampling performed for the indication of maternal age. Probabilities were obtained from the literature, and direct medical costs from hospital charges deflated to reflect aggregated contracted care reimbursements. Utilities were used to quality-adjust prenatal testing outcomes. Based on costs per abnormal birth averted, at all maternal ages from 30 to 43 years, amniocentesis was more cost-effective than chorionic villus sampling; at ages 44 and 45, chorionic villus sampling was more cost-effective. However, if the anxiety reduction provided by first-trimester diagnosis was equivalent to a 0.2% risk of an abnormal child, chorionic villus sampling was more cost-effective than amniocentesis at all maternal ages. Based on data from the 1988 United States natality cohort, the current policy of testing women aged 35 and older would cost $103,329 and $111,184 per abnormal birth averted for amniocentesis and chorionic villus sampling, respectively. Testing women aged 30 and older would almost double these costs. For either prenatal test, targeting high risk women for testing, and striving for utilization rates of 50% or higher, appeared to be the most cost-effective policy.

[Prenatal diagnosis: perceptions of women concerning their pregnancies]. / Diagnostic prénatal: connaissances des femmes à l'issue de leur grossesse.

After a pregnancy with a normal outcome what are women's perception and knowledge of prenatal tests performances? A survey was carried out during 1990, in the Bouches-du-Rhône area, on a representative sample of French speaking women who had just delivered a normal liveborn. The participation rate was 80% and the mean maternal age was 28.9. On average, 5 (4.7-5.1) prenatal ultrasound scans were carried out per pregnancy and 93% of the women thought that the main interest of this exam performed during the 4-5th month of pregnancy was to confirm that the foetus was normal; only 9% answered that when the scan was normal one could be sure that the fetus was normal. Among those responding, 87% were informed about the existence and the goal of amniocentesis: media were the first source of information about the test in 42%. The level of education was the major determinant of women's knowledge and this factor should be taken into account by the practitioner during the prenatal surveillance.

The acceptability of prenatal diagnosis in Japan.

Prenatal diagnosis has been performed more frequently in Japan recently, but is still less popular than in the United States or Europe. Legal arrangements, insufficient economic support, and insufficient medical information provided to future parents may explain this difference. The acceptability of prenatal diagnosis, based on the concept of the cost of side effects and elective abortion, was found to be similar when examined through decision analysis and direct survey. Amniocentesis was considered useful for more than half of couples in Japan when the incidence of chromosomal abnormality is more than 0.5% and proper information about the decision to undergo this examination is provided to the pregnant woman and her family.

The amniocentesis decision: ten years of decision analytic experience.

Over the past decade we have used a decision analytic model to counsel 840 patients (468 women, 381 men, 432 couples) about amniocentesis for prenatal diagnosis. The model explicitly considers the possibilities of miscarriage (both after amniocentesis and spontaneously), an affected child (as a function of maternal age), and various diagnostic errors. Prospective parents are shown the model after routine counseling is used to explain the options and potential outcomes. Using the lottery technique (in which they are asked to choose between therapeutic abortion and carrying a pregnancy to term without the benefit of amniocentesis, where the likelihood of an affected child is varied in a structured sequence), prospective parents expressed their attitudes on a utility scale, where zero corresponds to an unaffected child and where 100 corresponds to an affected child. On that scale, the mean assessed disutility of therapeutic abortion was 33.7 +/- 32.6 (35.8 +/- 32.1 among women, 30.9 +/- 32.9 among men). The decision model encourages couples to confront their attitudes toward specific reproductive outcomes, to clarify their values and to incorporate them, along with their current risks, into a logical decision about prenatal diagnosis.