The Vantage® Test

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The Vantage^® Test is a non-invasive prenatal screening test (NIPT/NIPS) that uses a type of DNA sequencing technology known as whole genome sequencing (WGS) to estimate the risk of chromosomal abnormalities and other genetic conditions such as Down’s Syndrome in a developing foetus by using a sample of the mother’s blood. It is generally done during the first or second trimester of pregnancy. It is considered a highly accurate test compared to traditional antenatal screening tests such as the Combined Test (also known as the OSCAR Test in some countries).

How does it work?

During pregnancy, the placenta sheds cell-free DNA (cfDNA) into the mother’s bloodstream. As a result, the mother’s blood contains a mixture of placental and maternal cfDNA. By evaluating the cfDNA in blood and combining this with the mother’s background risk of a trisomy (i.e. the mother’s age), a likelihood ratio is derived to predict the possibility of a chromosomal condition such as Down’s Syndrome in the foetus.

What does the Vantage^® Test screen for?

It screens for many common genetic abnormalities, including common trisomy conditions such as Down’s Syndrome (Trisomy 21), sex chromosomal conditions such as Turner Syndrome (Monosomy X), and clinically relevant microdeletion syndromes such as DiGeorge Syndrome (22q11.2 deletion).

List of conditions the test screens for:

Common Trisomies:

• Trisomy 21 (Down’s Syndrome)
• Trisomy 18 (Edwards’ Syndrome)
• Trisomy 13 (Patau’s Syndrome)

Microdeletions:

• 22q11.2 (DiGeorge Syndrome)
• 1p36 (1p36 Deletion Syndrome)
• 15q11.2 (Prader-Willi / Angelman Syndrome^#)
• 5p (Cri-du-Chat Syndrome)
• 4p16.3 (Wolf-Hirschhorn Syndrome)

Sex Chromosomal Aneuploidies:

• Monosomy X (Turner Syndrome)
• Trisomy X (Triple X Syndrome)
• XXY (Klinefelter’s Syndrome)
• XYY (Jacob’s Syndrome)

Extended Autosomal Aneuploidies

Additional chromosomal analysis across the rest of the other 19 chromosomes for monosomy or trisomy conditions.

Fetal Sex Determination*

Information on the sex of the baby (either male or female)

^#Prader-willi and Angelman Syndrome are two specific clinical conditions affected by the same microdeletion. *Not available in selected countries and not applicable for non-identical twins. Please check with your healthcare provider for more information.