Why is analysis of additional trisomy and microdeletion syndrome not offered?
The advantage of Harmony NIPT is to avoid unnecessary invasive testing.
Although the NIPT technologies are very good, a small number of results always appear, which falsely indicates a high probability of abnormality. These false alarms become more frequent the more abnormalities that are analyzed, and if the deviation in question also are extremely rare, which applies to almost all microdeletions (1/10 000 – 1/100 000), the result is that the analysis does more harm than good by causing an increase in the number of unnecessary amnicentesis / CVB.
For example, it requires about 300-400 amniocentesis to identify one true case of a mikrodeletion present in 1 out of 50,000 births.
We don’t think this is reasonable and therefore does not offer a any panel with a wide range of extremely rare abnormalities in Harmony NIPT.