For several years, numerous new non-invasive prenatal tests (NIPTs) have been available to identify common chromosomal anomalies. Most NIPTs are available for trisomies 21, 18 and 13 and sex chromosome aneuploidies, but many laboratories have expanded their range of analysis to include other trisomies and common microdeletions. The main advantage of NIPT compared to the conventional screening approach is the ease of implementation and non-invasiveness of the assay, as well as the potential reduction in false-positive [FP] results. NIPT is expected to both avoid unnecessary invasive procedures (AC and CVS) and minimise the risk of complications, pregnancy loss and anxiety.

The aim of the present EUnetHTA Assessment, summarised by the LBI-HTA, is to evaluate the efficacy and safety of non-invasive prenatal tests (NIPT) for screening for fetal trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13) in pregnant women from the 8th to the 9th week of pregnancy. In addition to a systematic review of the evidence, simulation models for two screening strategies were calculated. As the EUnetHTA modelling results show, policymakers need to weigh up the various goals of the NIPT:

• The goal of detecting all T21 cases could be achieved with a slightly higher rate of invasive testing;
• On the other hand, the goal of reducing the rate of invasive testing has the disadvantage that not all cases of T21 are detected.

An introduction of non-invasive genetic testing has ethical, social and organisational implications that need to be considered.