Prendia EXPERT

The supplement Prendia EXPERT detects the following groups of anomalies:

Sex chromosome anomalies ("SCA"), such as monosomy X, the most significant clinically (the respective clinical picture of the fetus is called Turner syndrome). However, the phenomenon of confined placental mosaicism ("CPM") must be taken into account. In these cases, the fetus is not affected (please see the paragraph on the limitations of the test). However, such a diagnosis requires special follow-up, which has been routine for decades in the context of invasive prenatal diagnostic testing (especially chorionic villus sampling or CVS). In this case, it is useful to consult specialists in prenatal medicine and clinical genetics.

Rare autosomal trisomies. The aim here is to detect trisomies for chromosomes other than those analyzed with the Prendia START. But the test also allows the detection of anomalies associated with significant clinical fetal damage, but in the presence of an apparently normal karyotype. Such anomalies can occur in the context of uniparental disomy (UPD), which results from the faulty correction of a fetal numerical aberration, producing a set of two chromosomes inherited from only one parent instead of both. This type of anomaly requires special monitoring and investigation through invasive prenatal diagnostic testing.

Abnormalities of the chromosome structure of the autosomes. This type of anomaly can cause serious fetal damage and is not so rare. For this reason, the Prendia EXPERT supplement aims to identify, in a reliable and robust way, anomalies (loss and gain of genetic material) of up to around 7 Mb (millions of base pairs). We limit the number of anomalies to be confirmed by invasive testing to those that show complete penetrance (generating clinical symptoms in all cases) and that cause serious fetal anomalies.

Prendia EXPERT - Detects trisomies 7, 16, 22