What does Sage screen for
Sage™ has a menu-based approach to cfDNA screening, where upon consultation with the pregnant mother, the healthcare professional can select which chromosome disorders to screen for and customise it for each patient depending on their background, maternal history and wishes
Autosomal aneuploidies
The Sage™ prenatal screen estimates the risk of a fetus having Down’s syndrome Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13). The accuracy is >99% for the detection of fetal chromosome aneuploidy. In addition, a genome-wide aneuploidy detection analysis on the remaining chromosomes can be carried out and reported
Sex chromosome aneuploidies
Upon request, the following sex chromosome aneuploidies can be screened for
Monosomy X – Turner syndrome
XXX – Triple X syndrome
XXY – Kleinfelter syndrome
XYY – Jacob’s syndrome
Microdeletions
Microdeletion syndrome is caused by the absence of a small portion of genetic material in the chromosome. They can vary greatly in severity, with the symptoms of microdeletions ranging from minimal developmental delays to sever anomalies e.g. cardiac defects, neurological malformations etc. Upon request, the following rare microdeletions can be screened for
DiGeorge syndrome
1p36 deletion syndrome
Prader-Willi syndrome
Angelman syndrome
Cri-du-Chat syndrome
Wolf-Hirschhorn syndrome
Fetal sex determination
Upon request, the fetal sex can be determined with >99% accuracy