What is
VERAgene®?

VERAgene® is a new-generation non-invasive prenatal test (NIPT) designed to give expecting parents a clearer and more complete picture 
of their pregnancy, early on.

With a single test, VERAgene® can simultaneously screen for fetal aneuploidies, selected microdeletions, and the risk of 100 monogenic (single-gene) conditions. These genetic conditions are known to have 
a moderate to severe impact on health and quality of life, and early awareness can support thoughtful planning and informed choices.

The test requires a simple blood sample from the mother and a buccal (cheek) swab from the biological father. During pregnancy, small fragments of fetal DNA naturally circulate in the mother’s blood. This cell-free DNA is analyzed together with the father’s DNA using next-generation sequencing (NGS) and advanced bioinformatics to assess genetic risk accurately and safely.
VERAgene can be performed from the 10th week of pregnancy, is validated for singleton and twin pregnancies, is suitable for IVF pregnancies, and can be offered to women of all ages.

Results are shared with the clinician, who discusses them with the parents and provides appropriate guidance, ensuring that every step is taken with care, clarity, and support.

The advantage of knowing more.

VERAgene goes beyond standard prenatal screening.
In a single test, it combines the detection of aneuploidies and microdeletions with risk assessment for 100 monogenic diseases, providing a more complete view of pregnancy.

The values behind the test

Safety

A non-invasive test with no risk for the mother or the baby.

Accuracy

More than 99% detection rate* for the genetic conditions covered by VERAgene.

Comprehensiveness

A single test that screens simultaneously for aneuploidies, microdeletions and monogenic disease risk.

Ease

Requires only a maternal blood sample and a simple buccal swab from the biological father.

Speed

Results available within 10-15 working days from sample receipt at the laboratory.

Clinical clarity

Clear result interpretation (very low risk / very high risk), including accurate fetal fraction reporting, in line with international guidelines.

How
VERAgene®
works?

VERAgene® combines genetic information from both parents to provide a comprehensive prenatal risk assessment.
A blood sample from the expectant mother contains cell-free DNA (cfDNA) originating from both the mother and the fetus.
At the same time, a simple buccal swab from the biological father provides paternal DNA.


• Fetal cfDNA is analyzed to screen for aneuploidies and microdeletions
• Maternal cfDNA, together with paternal DNA, is analyzed to assess the risk of monogenic diseases


Using next-generation sequencing (NGS) and advanced bioinformatics algorithms, VERAgene calculates the risk of the fetus having:


• a chromosomal aneuploidy
• a microdeletion
• or a monogenic genetic condition


The results are sent to the clinician, who discusses them with the parents and provides appropriate genetic counseling.

Who can
take the
VERAgene®
test?

VERAgene® is suitable for pregnant women of all ages, as it screens for genetic conditions that are not associated with maternal age.
It can be performed in any pregnancy, including pregnancies conceived naturally or through assisted reproduction, always in consultation with the healthcare provider.

What does VERAgene® screen for
VERAgene is a comprehensive non-invasive prenatal test that screens for genetic conditions that may impact health or quality of life. Specifically, VERAgene tests for:

Autosomal
Aneuploidies

Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)

Sex Chromosome Aneuploidies

Turner syndrome (45,X)
Triple X syndrome (47,XXX)
Klinefelter syndrome (47,XXY)
Jacobs syndrome (47,XYY)
XXYY syndrome

Microdeletions

DiGeorge syndrome (22q11.2)
1p36 deletion syndrome
Smith–Magenis syndrome (17p11.2)
Wolf–Hirschhorn syndrome (4p16.3)

Monogenic
Disorders

Screen for more than 100 single-gene conditions based on genetic variants from both biological parents

Gender determination can optionally be performed

Clinical Performance
& Technology
behind VERAGene®

VERAgene is built on advanced genomic analysis of cell-free DNA, combining Targeted Enrichment and Next-Generation Sequencing (NGS) with proprietary bioinformatics tools.

This approach allows VERAgene to accurately assess different categories of genetic conditions that may impact a child’s health or quality of life, offering a comprehensive view through a single, non-invasive test.

The analysis is structured into clear thematic categories, making it easier to understand what is being screened and how each category contributes to the overall evaluation of the pregnancy.

Below you can explore the detailed VERAgene screening table, presenting the categories and conditions included in the test.

AUTOSOMAL ANEUPLOIDIES
Down syndrome (Trisomy 21)
Three copies of chromosome 21
Edwards syndrome (Trisomy 18)
Three copies of chromosome 18
Patau syndrome (Trisomy 13)
Three copies of chromosome 13
SEX CHROMOSOME ANEUPLOIDIES (SCAs)
Turner syndrome (45,X)
Presence of a single X chromosome
Triple X syndrome (47,XXX)
Presence of three X chromosomes
Klinefelter syndrome (47,XXY)
Two X chromosomes and one Y chromosome
Jacobs syndrome (47,XYY)
One X chromosome and two Y chromosomes
XXYY syndrome
Extra copies of X and Y chromosomes
MICRODELETIONS
DiGeorge syndrome (22q11.2)
Deletion of part of chromosome 22
1p36 deletion syndrome
Deletion of part of chromosome 1
Smith–Magenis syndrome (17p11.2)
Deletion of part of chromosome 17
Wolf–Hirschhorn syndrome (4p16.3)
Deletion of part of chromosome 4
MONOGENIC DISEASES
100 single-gene disorders
Analyzed in the biological parents

What will the VERAgene®
test results show?

The VERAgene report is sent to your healthcare provider and is designed to offer clear, reassuring information during pregnancy. In simple terms, it shows whether there is a reduced or increased risk for certain genetic conditions included in the test.

Very low risk
Indicates that the likelihood of your baby being affected by one of the tested conditions is very low.
In most cases, pregnancy continues with routine prenatal care.

Very high risk
Indicates an increased likelihood of one of the tested conditions.
Your healthcare provider will explain the result and guide you through the next steps, which may include further testing or genetic counseling.

VERAgene is a screening test, not a diagnostic test.
When needed, results are confirmed with additional examinations, always in collaboration with your healthcare provider.

What is fetal fraction?
The report includes the measurement of fetal DNA circulating in the mother’s blood.
Accurate fetal fraction measurement is essential for reliable results and is calculated using validated scientific methods.
A report made to support you

The VERAgene report provides:
• clear results
• easy-to-understand interpretation
• guidance for next steps helping you and your healthcare provider make informed and confident decisions.

How the test
is performed?

The test can be done from the 10th week of pregnancy.

• A blood sample is collected from the pregnant woman.
• A buccal swab is collected from the biological father.
• Samples are sent for analysis to the specialized laboratories.
• Results are released to the clinician via a secure system, and then discussed with the parents with appropriate counseling.

Typical turnaround time: 10-15 working days from sample receipt.