Screening for Down's syndrome: Effects, safety, and cost efectiveness of first and second trimester strategies

Systematic Reviews Training Unit, Department of Paediatric Epidemiology and Biostatistics, Institute of Child Health, London WC1N 1EH.
BMJ Clinical Research (Impact Factor: 14.09). 09/2001; 323(7310):423-5.
Source: PubMed


To compare the effects, safety, and cost effectiveness of antenatal screening strategies for Down's syndrome.
Analysis of incremental cost effectiveness. Setting: United Kingdom.
Number of liveborn babies with Down's syndrome, miscarriages due to chorionic villus sampling or amniocentesis, health care costs of screening programme, and additional costs and additional miscarriages per additional affected live birth prevented by adopting a more effective strategy.
Compared with no screening, the additional cost per additional liveborn baby with Down's syndrome prevented was 22 000 pound sterling for measurement of nuchal translucency. The cost of the integrated test was 51 000 pound sterling compared with measurement of nuchal translucency. All other strategies were more costly and less effective, or cost more per additional affected baby prevented. Depending on the cost of the screening test, the first trimester combined test and the quadruple test would also be cost effective options.
The choice of screening strategy should be between the integrated test, first trimester combined test, quadruple test, or nuchal translucency measurement depending on how much service providers are willing to pay, the total budget available, and values on safety. Screening based on maternal age, the second trimester double test, and the first trimester serum test was less effective, less safe, and more costly than these four options.

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Available from: Mark J Sculpher, Feb 10, 2014
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    • "avoiding unnecessary invasive testing), the NT measurement, the quadruple test, the first-trimester combined screen and the integrated tests (using both first- and second-trimester testing to reach a final result, with or without NT testing [1]) represent the best options for DS screening. These tests are preferable to screening based only on maternal age and either the second-trimester double test or the first-trimester serum test [3,20]. "
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    ABSTRACT: A retrospective analysis of the Taiwanese National Birth Defect Registration and Notification System was conducted in order to determine the live birth- and stillbirth rates in infants with Down syndrome, trisomy 18, trisomy 13 and Turner syndrome between 2001 and 2010. The objective was to investigate the impact of Down syndrome screening on the Taiwanese Down syndrome live birth rate. In addition, the results of first-trimester Down syndrome screening between 2006 and 2011, and of second-trimester quadruple testing between 2008 and 2011, were obtained from the National Taiwan University Hospital. All Taiwanese infants born between 2001 and 2010 were included in the first part of the analysis, and women receiving first-trimester Down syndrome screening or second-trimester quadruple testing from the National Taiwan University Hospital were included in the second part. The live birth rate of infants with Down syndrome, per 100 000 live births, decreased from 22.28 in 2001 to 7.79 in 2010. The ratio of liveborn DS to total DS was 48.74% in 2001, and then decreased to 25.88% in 2006, when first-trimester screening was widely introduced in Taiwan. This ratio dropped to 20.64% in 2008, when the second-trimester quadruple test was implemented. The overall positive rate in first-trimester screening in the National Taiwan University Hospital was 3.1%, with a Down syndrome detection rate of 100%; the quadruple test had values of 9.0% and 75%, respectively. The use of first-trimester screening and the second-trimester quadruple test may be responsible for the marked decrease in the Taiwanese Down syndrome live birth rate observed between 2001 and 2010.
    Full-text · Article · Dec 2013 · PLoS ONE
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    • "The screening programmes include a second-trimester scan performed between weeks 18 and 23, which is almost routinely offered to all pregnant women and includes a systematic examination of the foetus for the detection of major and minor defects. Whether the increasing use of different prenatal screening programmes reduces the number of live-born infants with DS is controversial [1] [5] [11] [12] [20] . "
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    ABSTRACT: Aims: To evaluate the prevalence of congenital heart defects (CHDs) in live-born infants with Down syndrome (DS) and to investigate whether these CHDs might be detected during routine second trimester ultrasound screening performed at the primary level. Methods: A retrospective analysis of 66 cases of DS in live-born infants. The infants with DS underwent a detailed echocardiographic examination to evaluate cardiac morphological characteristics and function. Results: Thirty-six live-born DS infants (54.5%) had associated CHDs. According to the apical four-chamber view at the first postnatal echocardiographic examination, we estimated that 20 (55.6%) of the 36 patients with associated CHDs should have been identified during the routine second-trimester prenatal scan [17 infants with complete atrioventricular septal defect (AVSD), two with partial AVSD, and one with non-restrictive perimembranous ventricular septal defect] if the results had been correctly interpreted. An additional seven patients with associated CHDs should have been identified if the evaluation of both outflow tracts had been included into the screening protocol. Conclusion: Our data suggest that the prenatal DS detection rate can be significantly increased by improving obstetricians' skills of performing adequate foetal cardiac examination as part of the routine 18- to 23-week ultrasound examination at the primary level.
    Full-text · Article · Nov 2012 · Journal of Perinatal Medicine
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    • "For health care providers involved in the care of women of reproductive age, it is important to discuss with them the possibilities and implications of prenatal screening. From the public health perspective, it is important to choose a screening strategy that is both safe and effective, at acceptable capital costs (Wilson and Jungner, 1968; Gilbert et al., 2001). Prenatal screening for Down's syndrome should not be focused on cost avoidance or eradication of individuals with a disability or handicap. "
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    ABSTRACT: Screening tests have become increasingly popular in women's health care over the last two decades. The initiative for screening is typically generated by either an agency or the health care professional being consulted for some reason. In many instances, however, the demand for screening tests is patient driven with the health care provider being poorly prepared to determine the usefulness of screening. This review illustrates the complexity of screening using three disorders where early detection and treatment have the potential to improve the quality and longevity of life. Prenatal diagnosis of Down's syndrome does not offer the parents the opportunity for cure but does offer the opportunity for education and rational choice as the impact of the diagnosis on the family is weighed. The evidence for breast cancer screening is more persuasive for older than younger women, but even in older women, there is a balance of risks and benefits. Treatment options for osteoporosis have improved in terms of reductions in fracture risk as well as beneficial effects on bone density, but evidence of the effectiveness of a screening programme for this condition in an unselected population is lacking. Ultimately, it is crucial that women be provided with clear and comprehensive information about the screening programme, in terms of possible gains but also costs of various kinds: physical, economic and psychological.
    Full-text · Article · Sep 2006 · Human Reproduction Update
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