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Background: Non-invasive prenatal testing (NIPT), which can screen for aneuploidies such as trisomy 21, is being implemented in several public healthcare systems across Europe. Comprehensive communication and information have been highlighted in the literature as important elements in supporting women's reproductive decision-making and addressing relevant ethical concerns such as routinisation. Countries such as England and France are adopting broadly similar implementation models, offering NIPT for pregnancies with high aneuploidy probability. However, we do not have a deeper understanding of how professionals' counselling values and practices may differ between these contexts., Methods: In this paper, we explore how professionals in England and France support patient decision-making in the provision of NIPT and critically compare professional practices and values. We draw on data from semi-structured interviews with healthcare professionals., Results: Both English and French professionals emphasised values relating to patient choice and consent. However, understandings and application of these values into the practice of NIPT provision differed. English interviewees placed a stronger emphasis on interpreting and describing the process of counselling patients and clinical care through a "principle" lens. Their focus was on non-directiveness, standardisation, and the healthcare professional as "decision-facilitator" for patients. French interviewees described their approach through a "procedural" lens. Their focus was on formal consent, information, and the healthcare professional as "information-giver". Both English and French professionals indicated that insufficient resources were a key barrier in effectively translating their values into practice., Conclusion: Our findings illustrate that supporting patient choice in the provision of NIPT may be held as an important value in common on a surface level, but can be understood and translated into practice in different ways. Our findings can guide further research and beneficially inform practice and policy around NIPT provision., (© 2024. The Author(s).)

Background: The risk of having a child with Down's syndrome increases with maternal age. However, uptake of screening has never been analyzed according to age. Different studies have shown different screening uptake rates, some low and some high, but it is not clear which age categories are responsible for these trends., Aims: To demonstrate if any age cohorts are responsible for the noted decline in uptake of serum screening., Setting: A large teaching hospital in Hull and East Yorkshire, which has offered second trimester serum screening for Down's syndrome for over 16 years using the same test (triple test)., Main Outcome Measures: Uptake of serum screening for Down's syndrome in each 5-year age cohort per year, over 4 years. A secondary outcome measure was the uptake according to parity., Methods: We accessed our hospital records covering a 5-year period for all women booking and delivering in a large North of England teaching hospital. The women were categorized into 5-year age cohorts for analysis of the data., Results: Down's syndrome screening uptake rates indicate a decline from 63.2 and 65.1% in 2003 to 38.6 and 39% in 2006, respectively, in the age groups 25-29.9 and 30-34.9 years who constitute at least 50% of all pregnant women. There was no evidence of the effect of parity on serum screening., Conclusion: It is apparent that the noted overall decline in the trends of serum screening uptake are due to the reduced uptake by the 25-35 years age group.

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.

Objective: To examine the feasibility of a national register of Down's syndrome and its effectiveness in evaluating prenatal screening for the syndrome., Design: Information for the register was obtained from all eligible cytogenetic laboratories on relevant cytogenetic diagnoses, including date and place of birth or termination, maternal age, indication for karyotyping, and type of diagnostic test used., Setting: Cytogenetic laboratories in England and Wales., Subjects: All fetuses with trisomy 21 diagnosed prenatally and live births with Down's syndrome diagnosed at birth., Main Outcome Measures: Number of prenatal and postnatal diagnoses of Down's syndrome. National and maternal age specific prevalence of Down's syndrome., Results: For 1989 there were 1060 registrations--323 prenatal diagnoses and 737 postnatal diagnoses--after exclusion of postnatally diagnosed miscarriages and stillbirths. The estimated national rate of affected births for mothers resident in England and Wales was 1.4/1000 live births, assuming no terminations of affected pregnancies and after correction for natural losses which would have occurred in the absence of termination. The corrected maternal age specific rates were close to those found in previous population based studies. The proportion of affected pregnancies diagnosed prenatally in mothers aged 35 to 39 was 44%, and for those aged 40 or more it was 71%. Abnormal findings on ultrasonography played an unexpectedly important part in initiating cytogenetic investigation (13% of the prenatal diagnoses)., Conclusions: The findings establish the feasibility of a national Down's syndrome register and its use in evaluating prenatal screening services. Together with information held by the Office of Population Censuses and Surveys on congenital malformations, data from the register will permit studies of environmental variables affecting the prevalence of the syndrome.

Cytogenetic prenatal screening for Down's syndrome in the South West Region of England from 1975 to 1985 was reviewed. The use of amniocentesis increased, and for the years 1981 to 1985 averaged 29.4% of women 35 years or over at their estimated date of delivery. 58 pregnancies were terminated after karyotyping of amniotic fluid cells confirmed trisomy 21. 385,440 live births were born in the region, 452 with Down's syndrome, giving a live birth incidence of 1 in 853. The effective impact of prenatal screening was calculated at an overall 8.3% reduction in Down's syndrome live births, but for the years 1981 to 1985 this rose to 11.3%. In spite of the introduction of new prenatal screening programmes that are not reliant solely on maternal age, it is predicted that substantial numbers of children with Down's syndrome are likely to be born each year. Adequate medical facilities will still be required for the survivors.

Objective To evaluate the impact of the introduction of a Down syndrome screening policy in England, including implementation of the first-trimester combined screening test, on reducing prenatal invasive diagnostic procedure rates. Methods All English cytogenetic laboratories were asked to submit data from the fiscal years 2003/2004 until 2011/2012 on all samples received from prenatal invasive procedures, including those that were undertaken following a higher-risk Down syndrome screening result. Results There was a gradual decline in the number of invasive procedures undertaken subsequent to a positive Down syndrome screening result in England, from 36?968 in 2003/2004 to 11?446 in 2008/2009, with only a relatively small subsequent decrease, to 10?215, in 2011/2012. This corresponds to a 72% reduction in the number of referrals received by the cytogenetic laboratories over a 9-year period and correlates with the national policy of implementing the combined screening test in place of second-trimester screening, which has reduced the overall screen-positive rate to 3.1% from an initial level of 6.0%. Conclusions Implementation of a national Down syndrome screening policy based on the combined screening test has significantly reduced the number of invasive tests performed. However, as the combined screening test has become the replacement for second-trimester testing and has been almost completely implemented it appears that improvements in screening using current approaches may have reached their limits. [ABSTRACT FROM AUTHOR]

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]