Veragene prenatal test package with geneticist consultation

What Is VERAgene? 

VERAgene is the first such comprehensive non-invasive prenatal screening test (NIPT) for aneuploidies, microdeletions and point mutations. It is a genetic, non-diagnostic test, which means it does not identify a genetic disease in the baby, but assesses the risk of it.

The test is based on examining the fraction of fetal DNA that is present in the mother's bloodstream. A blood sample taken and a swab from the father's cheek is analyzed - based on this, the risk of genetic changes that could affect the baby's health is determined.

VERAgene detects 2,000 gene mutations responsible for metabolic diseases such as cystic fibrosis and phenylketonuria, among others.

The test is safe, with no risk to the pregnant woman or the fetus. It is suitable for singleton and twin pregnancies, as well as in disappearing twin syndrome.

The VERAgene test complements first trimester pregnancy screening, including ultrasound, which should be performed according to the recommendations of the Polish Gynecological Society. You may consider taking the VERAgene test after consulting with your pregnancy doctor or midwife to make an informed decision.

What genetic diseases does VERAgene detect?

The test can detect many disorders, including microdeletions, aneuploidies and monogenic diseases. Among the most common of these are:

Aneuploidies

• Down syndrome (trisomy 21)
• Edwards syndrome (trisomy 18)
• Patau syndrome (trisomy 13)
• Turner syndrome (monosomy X)
• Klinefelter syndrome (XXY)
• Jacobs syndrome

Aneuploidies refer to changes in the number of chromosomes in fetal cells. In the case of trisomy, fetal cells receive an extra chromosome, or third copy. In the case of monosomy, the cells have only one copy of the chromosome.

Microdeletions

• DiGeorge syndrome
• Smith-Magens syndrome
• Wolf-Hirschhorn syndrome
• 1p36 deletion syndrome

A microdeletion is the absence of a small part of a chromosome. While some microdeletions have little impact on a child's health and life, there are some that can cause mental disabilities and birth defects.

Microdeletions occur during pregnancies with the same frequency regardless of the mother's age.

Monogenic diseases

• Cystic fibrosis
• Tangled-acanthocytosis
• Phenylketonuria
• Sickle cell anemia
• Arthrogryposis, mental retardation and seizures

What is the new generation prenatal test VERAgene?

VERAgene is performed using a blood sample from the mother and a buccal swab from the biological father. The blood sample contains extracellular DNA from both the mother and the fetus. This DNA undergoes isolation and analysis along with the father's DNA sample for potential genetic mutations using next-generation sequencing. Complex bioinformatics algorithms are used to calculate the likelihood of a monogenic disease in the fetus.

The test results are sent to the doctor, who then passes the information on to the parents, providing them with the necessary support. In most cases, the test result is negative - indicating a very high probability of giving birth to a healthy baby.

Familiarize yourself with the process of performing the test. If you have questions about the test or genetic defects and how to identify them, ask your attending physician or the midwife caring for you. The medical staff will illuminate your doubts and help you make a decision about the test.

Why the VERAgene package? 

There are many benefits to taking the test. It is worth knowing that:

• The test is completely safe and non-invasive. It does not affect the course of pregnancy.
• The test has the broadest diagnostic spectrum - it is the only one on the market to detect the risk of monogenic diseases.
• The test is characterized by high accuracy:
• more than 99% for trisomies 21, 18 and 13, sex chromosome aneuploidies and microdeletions;
• more than 99% positive predictive value in detecting single-gene diseases.
• It is the only test on the market comparing genetic material from the father.
• The test can be performed as early as after the 10th week of pregnancy.
• You will know the result after about 7-9 working days.

Meanwhile, the included consutlation with a geneticist allows you to discuss the test results.

Important information:

• The test can be performed in women from the 10th week of pregnancy. A referral from a doctor is not required.
• You are welcome to come to the intake with an ID card or other proof of identity.
• A woman taking the test does not need to be fasting.
• The man (biological father) 2 hours before the test should not eat, drink, smoke, brush his teeth or chew gum.
• Waiting time for the test result is about 7-9 working days. The result is sent to the indicated e-mail address.