VERAgene — a non-invasive prenatal test (NIPT)

Very often, the joys of pregnancy are accompanied by questions such as: is my baby developing properly, is it healthy, and is there anything more I can do to ensure its future? 

VERAgene is a new-generation, non-invasive prenatal test that helps expectant parents find out more at an early stage. It analyses the mother’s blood and a cheek swab from the father, enabling the assessment not only of the most common chromosomal abnormalities, such as Down’s, Edwards’ and Patau’s syndromes, but also selected microdeletions and over 100 monogenic disorders. 

This programme is for parents who want to take a broader view of their child’s health and navigate the first few weeks of pregnancy with greater mindfulness. 

What is the VERAgene test? 

The VERAgene test is a modern prenatal screening test which, like the VERACITY Advanced test (link), falls within the NIPT (Non-Invasive Prenatal Testing) category. Both tests use an advanced method of analysing free foetal cell-free DNA, which circulates in the mother’s blood, to detect potential genetic abnormalities. 

The VERAgene test is distinguished by its broader diagnostic scope, enabling it to identify not only aneuploidies (i.e. changes in chromosome number), but also selected microdeletions and a panel of 100 single-gene diseases. 

Thanks to the technology used, the VERAgene test enables the extremely precise detection of minimal differences in DNA. This method of analysis allows for an accurate assessment of the risk of various chromosomal abnormalities in the foetus, including trisomy and rare microdeletions. Importantly, the VERAgene test also utilises the advanced TACS (Total Aneuploidy and Chromosomal Syndrome) analysis method. This enables even more accurate detection of very subtle changes in DNA structure, which may indicate the presence of serious genetic disorders. 

The VERAgene test is a hybrid test which is not limited to analysing the mother’s blood, but also takes into account a swab from the partner’s mouth, allowing for an even more comprehensive assessment of potential genetic risks to the baby. 

Which diseases does the VERAgene test exclude? 

This sophisticated and highly advanced technique enables us to obtain precise information about the child’s health. It is possible to detect selected trisomies, aneuploidies and microdeletions in the foetus, as well as 100 monogenic disorders. These disorders are responsible, amongst other things, for congenital defects, visual or hearing impairments, and abnormal development. Before NIPT tests became available on the market, similar results could only be obtained through invasive tests, which carry a small risk of miscarriage. 

Abnormalities associated with the presence of an extra copy or the absence of a single copy of a chromosome: 

• Down syndrome (Trisomy 21) 
• Edwards syndrome (Trisomy 18) 
• Patau syndrome (Trisomy 13) 
• Turner syndrome (Monosomy X) 
• Trisomy of the X chromosome 
• Klinefelter syndrome (XXY) 
• Jacobs syndrome (XYY) 
• Team XXYY 

Disorders associated with the absence of a single, small segment of the DNA strand, known as microdeletions including, amongst others: 

• DiGeorge syndrome (22q11.2) 
• Monosomy 1p36 syndrome (1p36) 
• Smith-Magenis syndrome (17p11.2) 
• Wolf-Hirschhorm syndrome (4p16.3) 

100 diseases associated with a defect within a single gene, known as. monogenic disorders, including: 

• Cystic fibrosis 
• Sickle cell anaemia 
• Phenylketonuria 
• Autosomal recessive polycystic kidney disease 
• Fanconi anaemia type C 
• Usher syndrome type 1F 
• Myotubular myopathy 
• Alström syndrome 
• Abetalipoproteinemia 
• Leber congenital blindness 
• Tangle-acanthocytosis. 

In addition, the VERAgene test allows the sex of the baby to be determined at the patient’s request. 

Who is the VERAgene test aimed at? 

The VERAgene test is recommended for all pregnant women from the 9th week onwards, regardless of whether the pregnancy is natural or has been achieved through assisted reproductive technologies, including in vitro fertilisation (IVF). The test can be carried out in both single and twin pregnancies. 

VERAgene is the first hybrid test on the market to combine NIPT with the analysis of genetic material from both parents. The samples analysed consist of two tubes of the mother’s blood and a cheek swab from the child’s biological father. 

The study is particularly recommended if: 

• You want to find out as much as possible about your child's genetic health. 

• You are over 35 years old.

• There is a history of genetic diseases in your family or your partner's family.

• Traditional prenatal testing indicated abnormalities in the child's genetic health.

Why is it worth having the VERAgene prenatal test?

• Safety and comfort - the test is non-invasive and painless, eliminating the risk of complications that can occur with amniocentesis. 
• Early diagnosis - the test can be performed as early as 9 weeks of pregnancy, much earlier than traditional screening. 
• Accuracy - VERAgene achieves almost 100% sensitivity in detecting genetic abnormalities. For example, the performance for detecting Down syndrome is as high as 99%, while traditional prenatal tests have a sensitivity of 80-95%. The precision of the VERAgene test for the point mutations tested is 100%. 
• Widest range of analysis - the test detects more genetic defects than standard screening, including aneuploidies, microdeletions and monogenic diseases. 

VERAgene is an innovative solution for expectant parents who want to be sure that their baby is developing normally. Thanks to its exceptional precision and early diagnosis, it helps to avoid unnecessary stress and ensures peace of mind throughout the pregnancy. 

A free consultation with a clinical geneticist and a psychologist 

If the test indicates an increased risk, we provide a free consultation with a clinical geneticist and a psychologist so that you can discuss the result at your leisure, plan the next steps and receive support. Your doctor is likely to recommend further diagnostic tests (e.g. an invasive test). 

Frequently asked questions