European Network for health technology assessment (EUnetHTA) is initiating project on assessment of screening of fetal aneuploidies (trisomy 13, 18 and 21) using non-invasive prenatal test (NIPT) in collaboration with Galician Agency for Health Technology Assessment (AVALIA-T) and Italian HTA agency Regione Emilia-Romagna. Completion of the project is planned to be on 30th of January, 2018 and aimed to evaluate effectiveness and safety of prenatal screening with NIPT, and also to assess organizational, ethical, legal issues and patient outcomes associated with this procedure.
Three types of the population will be considered in this assessment:
- Pregnant women classified as high risk for fetal aneuploidies by combined test results (first and/or second trimester serum screening and/or nuchal translucency), or assessed as high risk as a result of advanced maternal age, family history of chromosome abnormality, previous aneuploid pregnancy history.
- Pregnant women classified as intermediate risk for fetal aneuploidies by combined test results (first and/or second trimester serum screening and/or nuchal translucency)
- General pregnant population without any pre-defined fetal aneuploidy risk factor
Five types of interventions will be assessed in comparison with routine primary screening for fetal aneuploidies:
- Prenatal screening based on NIPT to estimate risk of fetal aneuploidies, followed - for women testing at risk - by invasive diagnostic tests (NIPT as a primary testing method; total replacement of combined tests)
- Prenatal screening based on NIPT, nuchal translucency and other clinical information (family history of chromosome abnormality, previous aneuploid pregnancy history, etc.) to estimate risk of fetal aneuploidies, followed - for women testing at risk - by invasive diagnostic tests (NIPT as part of a combined test; partial replacement of combined tests).
- Prenatal screening based on standard combined test and clinical information (family history of chromosome abnormality, previous aneuploid pregnancy history, etc.) to estimate risk of fetal aneuploidies, followed - for women estimated to be at high risk- by NIPT, followed - for women having risk confirmed by NIPT- by invasive diagnostic tests. (NIPT as an add-on to combined tests and other factors).
- Prenatal screening based on standard combined test to estimate risk of fetal aneuploidies, followed - for women testing at intermediate to high risk of aneuploidies- by NIPT, followed - for women having risk confirmed by NIPT- by invasive diagnostic tests (NIPT in add-on to combined tests and other factors).
- Prenatal screening and diagnosis with NIPT without confirmation by invasive diagnostic tests (NIPT in replacement of invasive diagnostic tests).
See final project plan here.
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