| Summary: | Currently, screening for trisomy (21,18 and 13) in Norway is based on a combination of blood tests and ultrasound (CUB) offered to all pregnant women 38 years of age or older. If the combined screening test indicates high risk, genetic verification via an invasive diagnostic test is offered either through chorionic villus sampling or amniocentesis. Non-Invasive Prenatal Testing (NIPT) measures the underlying genetic pathology of trisomies directly by analyzing fetal genetic material in the maternal circulation (cell-free fetal DNA, cffDNA). Several commercial testing strategies are available using different sequencing techniques for screening of trisomy 21, 18 and 13. We summarize research of diagnostic test accuracy of NIPT. In addition, we analyze health economic implications and highlight ethical consequences related to the national introduction of NIPT for detection of trisomy in pregnant women. Based on the evidence it seems that: 1. NIPT is a more accurate test for detecting trisomy than the CUB that is in use in Norway today. 2. A program with NIPT as a secondary test after CUB will result in fewer invasive tests and be more expensive than the current screening in Norway. 3. A program with NIPT as a primary test instead of CUB will also result in fewer invasive tests, but will be more expensive than both the current screening and if NIPT is used as secondary screeningtest. 4. NIPT is a test that challenges the underlying rationale for why and how we as a community and health service want to organize the fetal diagnostic services in Norway
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