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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.

OBJECTIVES - To assess the risk of early mortality and the quality of health of a recent cohort of 5 year old children with Down's syndrome to provide current information on prognosis. SETTING - A follow up study in 1994 of all live births with a cytogenetic diagnosis of trisomy 21 or related karyotype born in 1989 and diagnosed in the South East Thames and Oxford Regional Health Authorities; these amounted to 100 children. RESULTS - Eighteen of the sample of 100 had died in the first three years, and seven were reported as adopted. Fifty six mothers were interviewed, including five of children who had died. High rates of associated congenital defects were reported. The most common were congenital heart defects, which were reported for 29 of the 69 children for whom health information was available, and were certified as the underlying cause of death of 12 and required surgery in 11. At least five children had had gastrointestinal atresia or other gut blockage, most presenting at birth but one case occurring at 3 years, and these had necessitated a colostomy in two cases. Leukaemia had occurred in two children, both of whom had died. As expected mothers also reported high rates of defects of hearing, often treated with grommets; of vision; and frequent severe infections. CONCLUSIONS - Information of this nature, as well as that regarding the more positive aspects of Down's syndrome, should be made available to those counselling parents considering the offer of diagnostic tests.

We carried out an audit of antenatal screening for Down's syndrome using the Integrated test (which provides a single screening result from information collected in the late first and early second trimesters of pregnancy) which was introduced into routine antenatal care at two London hospitals, University College Hospital (UCH) and St Mary's Hospital, in 2003-4. The audit was based on 15,888 women who accepted screening and booked in the first trimester. The Down's syndrome detection rate was 87% (95% confidence interval [CI], 74-95) consistent with an expected detection rate of 89% based on applying the estimates of screening performance of the Serum, Urine and Ultrasound Screening Study (SURUSS) to the maternal age distribution of women who were screened at UCH and St Mary's. The observed false-positive rate was 2.1% (95% CI, 1.9-2.3), compared with an expected of 2.5% for women of the same age. An audit trail (conducted at UCH) indicated that 98% (10,746/10,961) of women accepted integrated screening (2% having a first trimester test) and of these, 94% (10,116) completed both stages of the test. The audit demonstrated that it is feasible to conduct integrated screening within the NHS with a high acceptance rate and a screening performance consistent with that determined from previous research studies. [ABSTRACT FROM AUTHOR]