At the World Congress of Fetal Medicine organized by Prof. Kypros Nikolaides, Professor Peter Benn, analyzed the importance of spreading the number of syndromes detected by non-invasive
prenatal test cfDNA.
He stressed that it would be useful to detect additional syndromes apart from Down syndrome especially when their detection can be followed by early medical intervention to improve their clinical picture. Such syndromes are sex chromosomal abnormalities and the DiGeorge syndrome with an incidence of 1/4000 births which is the most common microdeletion syndrome.
It is even more common than Trisomies 18 and 13, but unlike the first ones, only 50% of cases can be detected by ultrasonography.
About this syndrome only 2 cfDNA test companies have begun to report their performance. These performances are presented in the comparative table below based on their announcements at the conference (Helgeson et al, 2015; Gross et al., 2016; FMF abstract 2016).
The superiority of Sequenom is clear in all sectors (experience, performance and size of microdeletions studied).
So if you choose a cfDNA test to detect microdeletion syndromes, select the one that is more reliable and will not “see” microdeletion syndromes when they do not exist!
Select a MaterniT test!
