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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


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.

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