Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes
| Autor: | A. Coumans, Suzanna G.M. Frints, C.E.M. de Die-Smulders, Luc J.M. Smits, Joris A. Veltman, Elke Mersy, G. de Wert |
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| Přispěvatelé: | Klinische Genetica, Epidemiologie, Metamedica, Genetica & Celbiologie, Gynaecologie en Obstetrie, RS: CAPHRI School for Public Health and Primary Care, RS: CAPHRI - R5 - Optimising Patient Care, RS: CAPHRI - R6 - Promoting Health & Personalised Care, RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Down syndrome
medicine.medical_specialty Unnecessary Procedures Sensitivity and Specificity Pregnancy Risk Factors Prenatal Diagnosis medicine Humans Genetics (clinical) Down syndrome screening Spontaneous miscarriage Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] medicine.diagnostic_test business.industry Obstetrics Health Policy Non invasive Decision Trees Public Health Environmental and Occupational Health medicine.disease Abortion Spontaneous Pregnancy Trimester First Early Diagnosis Combined test Amniocentesis Female Down Syndrome FIRST screening test business |
| Zdroj: | Public Health Genomics, 18, 260-71 Public Health Genomics, 18, 5, pp. 260-71 Public Health Genomics, 18(5), 260-271. Karger |
| ISSN: | 1662-4246 |
| DOI: | 10.1159/000435780 |
| Popis: | Background: Implementation of non-invasive prenatal testing (NIPT) in Down syndrome screening programmes requires health policy decisions about its combination with other tests and its timing in pregnancy. Aim: Our aim was to aid health policy decision makers by conducting a quantitative analysis of different NIPT implementation strategies. Methods: Decision trees were created to illustrate all plausible alternatives in a theoretical cohort of 100,000 pregnant women in five screening programmes: classical screening by the first-trimester combined test (FCT), pre-selection of high-risk women prior to NIPT by the FCT, NIPT as the first screening test at 10 weeks and at 13 weeks, and the simultaneous conductance of NIPT and the FCT. Results: Pre-selection by FCT prior to NIPT reduces the number of amniocenteses to a minimum because of a reduction of false-positive NIPT results. If NIPT is the first screening test, it detects almost all fetal Down syndrome cases. NIPT at 10 weeks reassures women early in pregnancy, while NIPT at 13 weeks prevents unnecessary tests due to spontaneous miscarriages and allows for immediate confirmation by amniocentesis. Conclusion: Every implementation strategy has its advantages and disadvantages. The most favourable implementation strategy may be NIPT as the first screening test at 13 weeks, offering the most accurate screening test for Down syndrome, when the risk for spontaneous miscarriage has declined remarkably and timely confirmation by amniocentesis can be performed. |
| Databáze: | OpenAIRE |
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