Physician recommendation for invasive prenatal testing: the case of the 'precious baby'

Do clinicians manage pregnancies conceived by assisted reproductive technologies (ART) differently from spontaneous pregnancies?

Clinicians decisions about prenatal testing during pregnancy depend, at least partially, on the method of conception.

Research thus far has shown that patients decisions regarding prenatal screening are different in ART pregnancies compared with spontaneous ones, such that ART pregnancies may be considered more valuable or precious than pregnancies conceived without treatment.

In this cross-sectional study, preformed during the year 2011, 163 obstetricians and gynecologists in Israel completed an anonymous online questionnaire.

Clinicians were randomly assigned to read one of two versions of a vignette describing the case of a pregnant woman. The two versions differed only with regard to the method of conception (ART; n 78 versus spontaneous; n 85). Clinicians were asked to provide their recommendations regarding amniocentesis.

The response rate among all clinicians invited to complete the questionnaire was 16.7. Of the 85 clinicians presented with the spontaneous pregnancy scenario, 37 (43.5) recommended amniocentesis. In contrast, of the 78 clinicians presented with the ART pregnancy scenario, only 15 (19.2) recommended the test. Clinicians were 3.2 (95 confidence interval [CI]: 1.66.6) times more likely to recommend amniocentesis for a spontaneous pregnancy than for an ART pregnancy.

The study is limited by a low response rate, the relatively small sample and the hypothetical nature of the decision, as clinician recommendations may have differed in an actual clinical setting.

Our findings show that fertility history and use of ART may affect clinicians recommendations regarding amniocentesis following receipt of screening test results. This raises the question of how subjective factors influence clinicians decisions regarding other aspects of pregnancy management.

There was no funding source to this study. The authors declare no conflicts of interest.

Contingent screening for down syndrome is an efficient alternative to non-disclosure sequential screening

Objective To present a first and second trimester Down syndrome screening strategy, whereby second-trimester marker determination is contingent on the first-trimester results. Unlike non-disclosure sequential screening (the Integrated test), which requires all women to have markers in both trimesters, this allows a large proportion of the women to complete screening in the first trimester. Methods Two first-trimester risk cut-offs defined three types of results: positive and referred for early diagnosis; negative with screening complete; and intermediate, needing second-trimester markers. Multivariate Gaussian modelling with Monte Carlo simulation was used to estimate the false-positive rate for a fixed 85% detection rate. The false-positive rate was evaluated for various early detection rates and early test completion rates. Model parameters were taken from the SURUSS trial. Results Completion of screening in the first trimester for 75% of women resulted in a 30% early detection rate and a 55% second trimester detected rate (net 85%) with a false-positive rate only 0.1% above that achievable by the Integrated test. The screen-positive rate was 0.1% in the first trimester and 4.7% for those continuing to be tested in the second trimester. If the early detection rate were to be increased to 45% or the early completion rate were to be increased to 80%, there would be a further 0.1% increase in the false-positive rate. Conclusion Contingent screening can achieve results comparable with the Integrated test but with earlier completion of screening for most women. Both strategies need to be evaluated in large-scale prospective studies particularly in relation to psychological impact and practicability.

Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

OBJECTIVE: To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.

DESIGN: Population-based prevalence study based on EUROCAT congenital anomaly registries.

SETTING: Eight European countries.

POPULATION: 14.8 million births 1990-2009; 2.89% multiple births.

METHODS: DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases.

MAIN OUTCOME MEASURES: Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome.

STATISTICAL ANALYSIS: Poisson and logistic regression stratified for maternal age, country and time.

RESULTS: Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53-0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25-0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23-1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50-0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27-0.59]).

CONCLUSIONS: The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.

Three-stage contingent screening for down syndrome

Objective To demonstrate the potential value of three-stage sequential screening for Down syndrome. Methods Protocols were considered in which maternal serum pregnancy associated plasma protein-A (PAPP-A) and free -human chorionic gonadotropin (hCG) measurements were taken on all women in the first trimester. Those women with very low Down syndrome risks were screened negative at that stage and nuchal translucency (NT) was measured on the remainder and the risk reassessed. Those with very low risk were then screened negative and those with very high risk were offered early diagnostic testing. Those with intermediate risks received second-trimester maternal serum -fetoprotein, free -hCG, unconjugated estriol and inhibin-A. Risk was then reassessed and those with high risk were offered diagnosis. Detection rates and false-positive rates were estimated by multivariate Gaussian modelling using Monte-Carlo simulation. Results The modelling suggests that, with full adherence to a three-stage policy, overall detection rates of nearly 90% and false-positive rates below 2.0% can be achieved. Approximately two-thirds of pregnancies are screened on the basis of first-trimester biochemistry alone, five out of six women complete their screening in the first trimester, and the first-trimester detection rate is over 60%. Conclusion Three-stage contingent sequential screening is potentially highly effective for Down syndrome screening. The acceptability of this protocol and its performance in practice, should be tested in prospective studies. Copyright © 2006 John Wiley & Sons, Ltd.

Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome

The ectrodactyly-ectodermal dysplasiaclefting syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene, a transcription factor belonging to the p53 family. The majority of cases of ectrodactyly-ectodermal dysplasia syndrome are caused by de novo mutations and are therefore sporadic in approximately 60% of patients. The substitution of arginine to histidine (R279H), due to a c.836G>A mutation in exon 7 of the p63 gene, represents 55% of the identified mutations and is considered a mutational hot spot. A quantitative and sensitive real-time PCR was performed to quantify both wild-type and R279H alleles in DNA extracted from peripheral blood and RNA from cultured epithelial cells. Standard curves were constructed for both wild-type and mutant probes. The sensitivity of the assay was determined by generating serial dilutions of the DNA isolated from heterozygous patients (50% of alleles mutated) with wild-type DNA, thus obtaining decreasing percentages of p63 R279H mutant allele (50%, 37.5%, 25%, 12.5%, 10%, 7.5%, 5%, 2.5%, and 0.0%). The assay detected up to 1% of the mutant p63. The high sensitivity of the assay is of particular relevance to prenatal diagnosis and counseling and to detect therapeutic effects of drug treatment or gene therapy aimed at reducing the amount of mutated p63. © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

Climate Change, national politics and grassroots action: an introduction

Climate change continues to dominate academic work within green/environmental politics. Indeed, there appears to be almost an inverse relationship between the lack of political leadership on tackling climate change and the growth in ever more sophisticated academic analyses of this complex and multifaceted problem. There is an increasing disjunction between the growth in our knowledge and understanding of the ethical, political, economic, sociological, cultural, and psychological aspects of climate change and the lack of political achievement in putting in place clear and binding targets, an agreed decarbonisation roadmap, and associated regulatory and policy instruments with enforcement. This gap might be taken as evidence that we do not need more reports on climate change. To quote that most unlikely of green politicians, Arnold Schwarzenegger, former Governor of California: ‘The debate is over. We know the science. We see the threat. And we know that the time for action is now’ (California Energy Commission 2007, p. 1). This special issue focuses on a variety of ways in which climate change is conceptualised in normative political and ethical theory, and addressed in policy and regulations.

Illness perception clusters at diagnosis predict psychological distress among women with breast cancer at 6 months post-diagnosis.

OBJECTIVE:

This study aimed to examine the extent to which illness perceptions and coping strategies among women diagnosed with breast cancer explain psychological distress at diagnosis and at 6?months post diagnosis relative to demographic and illness-related variables.

METHODS:

Women were recruited to the study shortly after diagnosis. A total of 90 women completed study materials (Illness Perception Questionnaire-Revised, the Cancer Coping Questionnaire and the Hospital Anxiety and Depression Scale) at time 1. The same questionnaires were sent approximately 6?months later to those who had consented at time 1, and completed questionnaires were returned by 72 women.

RESULTS:

Cluster analysis was used to identify groups of respondents who reported a similar profile of illness perception scores. Regression analysis demonstrated that one of these clusters was more likely to experience psychological distress than the other both at diagnosis and at 6?months post diagnosis. Illness perception cluster membership and positive focus type coping were the most important and consistent predictors of lower psychological distress at diagnosis and at 6?months post diagnosis.

CONCLUSIONS:

Illness perceptions remained relatively stable over the study period, and therefore we are unable to clarify whether changes in illness cognitions are associated with a corresponding change in psychological symptoms. Future research should evaluate the impact on psychological distress of interventions specifically designed to modify illness cognitions among women with breast cancer.

The potential role of fruit and vegetables in aspects of psychological well-being: a review of the literature and future directions

The objective of the present paper was to review the literature investigating the potential relationship between fruit and vegetables (FV) and psychological well-being. The rising prevalence of mental ill health is causing considerable societal burden. Inexpensive and effective strategies are therefore required to improve the psychological well-being of the population, and to reduce the negative impact of mental health problems. A growing body of literature suggests that dietary intake may have the potential to influence psychological well-being. For example, studies have suggested that particular dietary constituents, including vitamins and minerals, might be beneficial to psychological health. However, in order to better reflect normal dietary intake, health-based research has increasingly begun to focus on whole foods and dietary patterns, rather than individual nutrients. One food group that has received increasing attention with regard to psychological health is FV. This is probably a result of the strong evidence base, which exists in relation to their protective association with a number of chronic diseases, as well as the fact that they are a rich source of some of the nutrients which have been linked to psychological health. While some promising findings exist with regards to FV intake and psychological well-being, overall, results are inconsistent. Possible reasons for this, such as methodological issues related to study design and the measurement of psychological well-being and FV intake, are discussed within this review. Based on the predominantly observational nature of existing literature, the present paper concludes that future well-designed randomised controlled trials are required to investigate the relationship further.

Maternal appraisals of risk, coping and prenatal attachment among women hospitalised with pregnancy complications

One goal of pregnancy is the development of maternal emotional attachment to
the unborn baby, and this attachment has been shown to be related to later
relationships and development. There are many factors which may hinder the
development of prenatal attachment, including the presence of complications,
hospitalisation, and anxiety. However, women’s appraisals of risk may not be
congruent with medical assessments of risk. The current study sought to model
the relationships between risk (maternal perceptions and medical ratings), coping, psychological well-being, and maternal–foetal attachment among 87 women hospitalised for pregnancy-related complications. Analysis indicated that positive appraisal as a coping strategy mediates the relationship between maternal appraisals of risk and maternal–foetal attachment, and that medical ratings of risk were not predictive of maternal–foetal attachment. Awareness of the potential incongruence between patients’ and health professionals’ perceptions of risk is important within the clinical environment. The potential benefits of promoting positive appraisal in high-risk pregnancy merit further research.

Psychological status of patients referred for orthognathic correction of skeletal II and III discrepancies

Objective: To establish the extent of psychological problems among patients who require orthognathic treatment. Materials and Methods: Five aspects of psychological functioning were assessed for 162 patients who required orthognathic treatment and compared with 157 control subjects.

Results: Analysis of variance did not detect any significant difference in the five psychological scores recorded for the skeletal II, skeletal III, and control groups. The proportion of subjects with one or more psychological measure beyond the normal range was 27% for skeletal II subjects, 25% for skeletal III subjects, and 26% for control subjects. One skeletal II subject (1.5%), three skeletal III subjects (3%), and five control subjects (3%) required referral for psychological counseling.

Conclusions: The orthognathic patients did not differ significantly from the control subjects in their psychological status. © 2010 by The EH Angle Education and Research Foundation, Inc.

The Impact of Engagement Processes on the First Appointment Attendance Rate at a Regional Outpatient Psychological Trauma Service.

The effectiveness of simple measures to increase attendance at first appointments is briefly reviewed. The Family Trauma Centre’s remit and pre-study engagement process are described. The perceived idiosyncratic aspects of inviting people suffering from psychological trauma to attend a clinical service are noted as contributory factors in initially tolerating a high first appointment DNA rate. Three new initial engagement processes are then described and results of their application to 30 referrals in total are presented. The overwhelming finding is that paying close attention to any of the three initial engagement processes significantly increases first appointment attendance. Based on these findings the Centre developed a new initial engagement protocol.. The principle that services should pay more attention to their engagement processes than on the characteristics of their client groups when seeking to reduce first appointment DNA rates is supported.