NIPT / NIPT+

The Sage™ prenatal screen is a new advanced non-invasive prenatal screening solution using the latest developments in DNA technology to detect placental DNA in maternal blood. Sage™ offers a menu-based chromosome analysis to estimate the risk of a fetus having Down’s syndrome and other genetic disorders. Customised screening for clinicians and laboratories from full clinical service to local laboratory set-ups with remote cloud-based NIPT analysis. Enabling pregnant women and their families fast, safe and reliable results and reducing the need for invasive tests and the associated risks, stress and anxiety.
Sage™ utilises the sequencing and bioinformatics expertise of Yourgene and the clinical understanding, IVD and quality standards from Premaitha Health plc.

• Fully automated analysis with individual patient reports
• Flexible and scalable NGS laboratory workflow with full validation support
• Offer clinicians everything from aneuplodies to microdeletions
• 3 day turnaround time
• Accurate with >99% detection of trisomy conditions
• High quality – powered by Premaitha a leading provider of NIPT

Sage™ has a menu based approach to cfDNA screening, where upon consultation with your pregnant mother, you can select which chromosome disorders to screen for and customise it for each patient depending on their background, maternal history and wishes.
  The Sage™ prenatal screen estimates the risk of a fetus having Down’s syndrome (trisomy 21), Edward’s 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 is carried out and reported. 
  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, Williams syndrome, Koolen-de Vries syndrome, Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, Cri-du-Chat syndrome, 18q deletion syndrome, Wolf-Hirschhorn syndrome, Alagille syndrome, Jacobsen syndrome, Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), Rubinstein-Taybi syndrome, WAGR syndrome, Potocki-Shaffer syndrome, Miller-Dieker syndrome, 1q21.1 deletion syndrome, Kleefstra syndrome, Phelan-Mcdermid syndrome.
  Upon request, the fetal sex can be determined with >99.9% accuracy.