In my opinion, yes. This testing is in its infancy and procedures are still being optimized but it is already clear that NIPT can help identify some clinically significant and relatively common microdeletion syndromes such as the 22q11.2 deletion syndrome. Even when patients would have no intention of terminating an affected pregnancy, there are benefits to screening because it can lead to better neonatal management. Robust estimates of detection rates, false-positive rates and positive predictive values are not yet available. As with NIPT for aneuploidy, confirmatory testing is necessary. It is also possible that in rare instances, a microdeletion that is present in a parent may be identified. Patients therefore need careful counseling prior to receiving this adjunctive component of NIPT.

Patients should be made aware that the chance of a false-positive result is considerably increased for NIPT which include microdeletions. In one study this was estimated to be 0.8% (Wapner et al., Am J Obstet Gynecol 2015;212:332.e1-9).