Antenatal screening for haemoglobinopathies in primary care: a cohort study and cluster randomised trial to inform a simulation model. The Screening for Haemoglobinopathies in First Trimester (SHIFT) trial.

OBJECTIVES: To assess the effectiveness, cost-effectiveness, acceptability and feasibility of offering universal antenatal sickle cell and thalassaemia (SCT) screening in primary care when pregnancy is first confirmed and to model the cost-effectiveness of early screening in primary care versus standard care. DESIGN: A population-based cohort study, cluster randomised trial and refinement of a published decision model. SETTING: Twenty-five general practices from two UK primary care trusts (PCTs) in two inner city boroughs with a high proportion of residents from minority ethnic groups. PARTICIPANTS: Practices were considered eligible if they agreed to be randomised and they were able to provide anonymous data on all eligible pregnant women. Participants were at least 18 years old and consented to take part in the evaluation. INTERVENTIONS: Practices were allocated to intervention, using minimisation and stratifying for PCT and number of partners at the practice, as follows: screening in primary care with parallel father testing (test offered to mother and father simultaneously; n = 8 clusters, 1010 participants); screening in primary care with sequential father testing (test offered to father only if mother identified as carrier; n = 9 clusters, 792 participants); and screening in secondary care with sequential father testing (standard care; n = 8 clusters, 619 participants). MAIN OUTCOME MEASURES: Data on gestational age at pregnancy confirmation and screening date were collected from trial practices for 6 months before randomisation in the cohort phase. The primary outcome measure was timing of SCT screening, measured as the proportion of women screened before 70 days' (10 weeks') gestation. Other outcomes included: offer of screening, rates of informed choice and proportion of women who knew the carrier status of their baby's father by 77 days (11 weeks). RESULTS: For 1441 eligible women in the cohort phase, the median [interquartile range (IQR)] gestational age at pregnancy confirmation was 7.6 weeks (6.0 to 10.7 weeks) and 74% presented in primary care before 10 weeks. The median gestational age at screening was 15.3 weeks (IQR 12.6 to 18.0 weeks). Only 4.4% were screened before 10 weeks. The median delay between pregnancy confirmation and screening was 6.9 weeks (4.7 to 9.3 weeks). In the intervention phase, 1708 pregnancies from 25 practices were assessed for the primary outcome measure. Completed questionnaires were obtained from 464 women who met eligibility criteria for the main analysis. The proportion of women screened by 10 weeks (70 days) was 9/441 (2%) in standard care, compared with 161/677 (24%) in primary care with parallel testing, and 167/590 (28%) in primary care with sequential testing. The proportion of women offered screening by 10 weeks (70 days) was 3/90 (3%) in standard care (note offer of test ascertained for questionnaire respondents only), compared with 321/677 (47%) in primary care with parallel testing, and 281/590 (48%) in primary care with sequential testing. The proportion of women screened by 26 weeks (182 days) was similar across the three groups: 324/441 (73%) in standard care, 571/677 (84%, 0.09) in primary care with parallel testing, and 481/590 (82%, 0.148) in primary care with sequential testing. The screening uptake of fathers was 51/677 (8%) in primary care with parallel testing, and 16/590 (3%) in primary care with sequential testing, and 13/441 (3%) in standard care. The predicted average total cost per pregnancy of offering antenatal SCT screening was estimated to be 13 pounds in standard care, 18.50 pounds in primary care with parallel testing, and 16.40 pounds in primary care with sequential testing. The incremental cost-effectiveness ratio (ICER) was 23 pounds in primary care with parallel testing and 12 pounds in primary care with sequential testing when compared with standard care. Women offered testing in primary care were as likely to make an informed choice as those offered screening by midwives later in pregnancy, but less than one-third of women overall made an informed choice about screening. CONCLUSIONS: Offering antenatal SCT screening as part of pregnancy-confirmation consultations significantly increased the proportion of women screened before 10 weeks (70 days), from 2% in standard care to between 16% and 27% in primary care, but additional resources may be required to implement this. There was no evidence to support offering fathers screening at the same time as women. TRIAL REGISTRATION: Current Controlled Trials ISRCTN00677850.

Is informed choice in prenatal testing universally valued? A population-based survey in Europe and Asia.

OBJECTIVE: Informed choice has become an integral part of healthcare provision. We investigated the extent to which informed choice in the context of prenatal testing is universally valued. DESIGN: The value attached to parental choice in prenatal testing and the perceived importance of significant others' views when making test decisions were assessed in a cross-sectional, descriptive study. SAMPLE AND SETTING: Male and female participants from general population samples in six countries: the UK (n = 210), the Netherlands (n = 197), Italy (n = 200), Greece (n = 200), China (n = 200) and India (n = 199). METHODS: The questionnaires assessed values attached to parental involvement and the perceived importance of the views of significant others when making prenatal test decisions. MAIN OUTCOME MEASURES: Attitudes towards parental choice and attitudes towards the importance of others' views were analysed by age, gender and education using Chi-squared tests, Analysis of Variances and multiple logistic regression. RESULTS: The majority of respondents from Northern European countries believed that undergoing prenatal tests should reflect parental choice. Conversely, only a minority of respondents from Southern European and Asian countries advocated parental choice, with most expressing the belief that all pregnant women should have the procedure. The perceived importance of significant others' views when making test decisions also varied across countries: those in favour of parental choice perceived others' views as less important in the test decision. A preference for prenatal testing decisions to reflect an informed choice was predicted by (i) country and (ii) the perceived importance of significant others' views. Education, age and gender did not predict decisions. CONCLUSION: The implications of these findings for policy and practice depend upon whether placing a low value on parental choice, but a high value on the others' views regarding prenatal testing is considered an informed choice. Further research is needed to determine whether cultural variation in values remains significant in a multicultural society.

Informed choice to undergo prenatal screening: a comparison of two hospitals conducting testing either as part of a routine visit or requiring a separate visit.

BACKGROUND: It is not known which of two common methods of conducting prenatal screening best facilitate women making informed choices. OBJECTIVE: To describe rates of informed choice in two hospitals: one where screening for Down's syndrome was conducted at a routine visit; the other where screening was conducted as part of a separate visit. DESIGN: Prospective descriptive study. SETTING: Two hospitals in England. PARTICIPANTS: 1499 pregnant women offered screening for Down's syndrome. OUTCOME MEASURE: A multidimensional measure of informed choice derived from measures of (a) consistency between attitudes towards undergoing the test and uptake and (b) knowledge about the screening test. RESULTS: The proportion of women making an informed choice to accept the test was higher at the routine visit hospital than at the separate visit hospital (41% v 21%, 95% confidence interval (95% CI) of the difference 16% to 25%). The proportions of women making an informed choice to decline the test were similar at the two hospitals (23% at both, 95% CI of the difference -5% to 4%). These results reflect the finding that women with negative attitudes were equally likely to decline the test at each of the two hospitals, whereas women with positive attitudes were more likely to accept the test at the routine visit hospital than at the separate visit hospital. This finding held after adjusting for parity, socioeconomic status, age, and ethnicity. At both hospitals, women with good knowledge were slightly more likely to undergo the test than were women with poor knowledge. This difference disappeared after a similar adjustment. CONCLUSION: Screening conducted as part of a routine visit may be associated with higher levels of informed choice than screening conducted at a separate visit. This finding constitutes a hypothesis for experimental investigation.

A measure of informed choice.

OBJECTIVE: To develop a measure of informed choice. CONCEPTUALIZATION AND MEASUREMENT: The measure is based on the following definition of an informed choice: one that is based on relevant knowledge, consistent with the decision-maker's values and behaviourally implemented. The measure comprises an eight-item scale of knowledge, a four-item scale assessing attitudes towards undergoing the screening test and a record of test uptake. PARTICIPANTS: Sixty-six women awaiting their first antenatal clinic appointments. MEASURE DEVELOPMENT: In women offered a screening test in pregnancy, the internal reliability of both the knowledge and the attitude scales was acceptable (alpha coefficients 0.82 and 0.83, respectively). Of the 42 women completing both scales, 18 were classified as having made an informed choice, and 24 were classified as having made an uninformed choice. CONCLUSION: The results of this preliminary study provide some evidence to support the feasibility of conceptualizing and measuring informed choices regarding screening using a brief measure assessing knowledge and attitudes. The validity and utility of this approach awaits further studies, involving larger numbers of participants, offered different screening tests.

Facilitating informed choice in prenatal testing: how well are we doing?

There is a consensus that prenatal testing services need to provide the information and support necessary for women to make informed choices about prenatal testing. Informed choices are those based on relevant information that reflect the decision-maker's values. To date, most research has focused on the information provided to women deciding whether to undergo tests. This has highlighted the poor quality of information provided to many women. There is agreement on the need to provide information on three key aspects of any test: the condition for which testing is being offered, characteristics of the test, and the implications of testing. Very little research has been conducted on decisions after the diagnosis of a fetal abnormality and how information and emotional and decisional support are and should be provided. Research is now needed in four key areas: first, on the optimal ways of organizing services to facilitate choices that are not only based on relevant information, but also reflect the decision-maker's values; second, on the most effective ways of framing information needed for the different decisions involved in prenatal testing; third, on the most effective media in which to deliver information; and, fourth, to identify aspects of counseling that facilitate informed choices following diagnoses of fetal abnormality. If we value women's ability to make informed choices about prenatal tests as highly as we value reliable laboratory tests, evidence-based quality standards need to be developed for the information and support women are given at all stages of the process of prenatal testing.