VERAgene: NIPT & Single Gene Disorders Screening

VERAgene is suitable for pregnant individuals of any maternal age or risk category, including:

• Singleton pregnancies
• Twin pregnancies*
• Vanishing twin pregnancies*
• IVF pregnancies using the patient’s own eggs (singleton)
• IVF pregnancies using the patient’s own eggs (twins or vanishing twin)*

* Sex chromosome aneuploidy screening is not available for twin or vanishing twin pregnancies.

VERAgene is not suitable for:

• Pregnancies conceived using donor eggs or surrogacy
• Patients with a current or previous malignancy
• Patients who have received an organ or bone marrow transplant
• Patients who have recently received a blood transfusion

VERAgene complements conventional prenatal screening methods, such as ultrasound and biochemical testing, by extending the scope of genetic evaluation. Traditional approaches identify structural or biochemical markers but cannot assess inherited or subchromosomal abnormalities. Inherited single-gene disorders occur across all pregnancies regardless of maternal age or family history, so incorporating monogenic disease screening into the same test provides clinically relevant information that conventional screening cannot detect.

Key reasons to recommend VERAgene include:

• Earlier and broader genetic risk assessment across chromosomal, microdeletion, and monogenic conditions
• Clinical confidence: validated accuracy across diverse pregnancy types
• Early results: available from week nine, supporting timely patient management
• Reduced invasive procedures: fewer false positives compared to conventional screening
• Guideline alignment: consistent with , , and recommendations for universal cfDNA screening

VERAgene reports results as either:

• Very low risk: A reduced likelihood that the fetus is affected by one of the conditions included in the test.
• Very high risk: An increased likelihood that the fetus is affected by one of the screened chromosomal abnormalities or inherited monogenic disorders. Confirmatory diagnostic testing is recommended.

Fetal fraction: The fetal fraction, representing the proportion of fetal cell-free DNA in the maternal blood sample, is accurately measured and reported for every sample using validated bioinformatic analysis, in accordance with the position statement (Gregg et al., 2016).

Result interpretation

Every report includes:

• A concise, standardised interpretation of the findings
• Clear recommendations for appropriate clinical follow-up
• Guidance on confirmatory diagnostic testing when indicated
• For the monogenic disease component, an assessment of the fetal risk for the screened inherited disorders based on combined parental analysis
• Individual maternal and paternal carrier status is not reported

Important

• VERAgene is not a carrier screening test. For the monogenic disease component, the report provides an assessment of the risk that the fetus is affected by the screened inherited disorders. Individual maternal and paternal carrier status is not reported.
• VERAgene is a screening test, not a diagnostic test. A Very High Risk result should always be confirmed by an appropriate diagnostic procedure.

While chromosomal abnormalities are an important cause of fetal genetic disease, inherited monogenic disorders are also a significant cause of severe genetic conditions and are not detected by conventional NIPT or routine ultrasound.

By combining screening for common chromosomal abnormalities, clinically significant microdeletion syndromes and selected inherited monogenic disorders, VERAgene provides a more comprehensive assessment of fetal genetic risk from a single prenatal test.

Beyond conventional NIPT

Conventional NIPTs are designed to assess the risk of common chromosomal abnormalities, such as trisomy 21, trisomy 18 and trisomy 13, and may also screen for selected microdeletion syndromes.

VERAgene extends this assessment by estimating the risk that the fetus is affected by 100 selected inherited monogenic disorders, providing clinically relevant information that is not available through conventional NIPT.

Why is this important?

Although each inherited monogenic disorder is individually rare, together they represent a significant cause of severe childhood disease. Many are associated with early onset, serious clinical consequences and have established management pathways. Early identification can support:

• Appropriate prenatal counselling
• Informed reproductive and pregnancy management
• Preparation for specialised neonatal care, when required
• Timely access to treatment and clinical interventions where available

Family history is not always enough

Most couples who have a child affected by an autosomal recessive disorder have no known family history because healthy carriers are typically unaware that they carry a disease-causing variant.

VERAgene helps identify pregnancies that may otherwise go unrecognised by estimating the risk that the fetus is affected by selected inherited monogenic disorders based on combined analysis of maternal cell-free DNA and a buccal swab from the biological father.

VERAgene goes beyond conventional NIPT by combining chromosomal screening, clinically significant microdeletion screening and fetal risk assessment for 100 inherited monogenic disorders in a single, integrated prenatal test.

Following receipt of the VERAgene report, healthcare providers should:

• Communicate the results to the patient
• Provide or recommend genetic counselling, when appropriate
• Confirm any Very High-Risk result through an appropriate prenatal diagnostic procedure
• Discuss available clinical management options based on the confirmed diagnosis and individual patient circumstances

Genetic counselling is a specialised, patient-centred, impartial, and non-directive communication process that supports patients and their families both before and after genetic testing.

Prior to genetic testing, genetic counsellors obtain a detailed medical and family history and provide education on genetic concepts, the testing process, and available options, along with the potential risks, benefits, limitations, and possible outcomes.

Upon receiving genetic test results, genetic counsellors assist in interpreting the findings and guide individuals through the implications for their own personal health and that of their family members. During post-test counselling, genetic counsellors also provide evidence-based recommendations on next steps, including strategies for prevention, surveillance, and management.

The goal of genetic counselling is to empower patients through knowledge and tailored support, enabling them to make informed and voluntary decisions.

VERAgene’s targeted next-generation sequencing (NGS) reduces background noise and analytical artifacts and focuses only on genomic regions of proven medical significance. This approach supports high sensitivity and specificity for both common aneuploidies and clinically significant microdeletions for reliable results. VERAgene uses novel targeted technology that enables aneuploidy detection as well as fetal fraction measurement with unparalleled accuracy and reliability.

For monogenic conditions, VERAgene concurrently analyses maternal cfDNA and paternal genomic DNA to calculate the fetus’s risk based on established inheritance models. This trio-based design minimizes false positives and screens for variants associated with 100 autosomal recessive and X-linked disorders with demonstrated clinical significance.

Proven clinical performance

VERAgene has been extensively evaluated through peer-reviewed publications and comprehensive analytical and clinical validation studies. The assay demonstrates high sensitivity, specificity and reproducibility for the detection of common fetal aneuploidies, sex chromosome aneuploidies and clinically significant microdeletions.

Clinically focused microdeletion screening

VERAgene focuses on a carefully selected panel of clinically significant microdeletion syndromes. Its targeted sequencing approach provides deep coverage of clinically relevant genomic regions and is validated to detect microdeletions as small as 1 Mb, including 22q11.2 deletion syndrome (DiGeorge syndrome).

Performance highlights

• High accuracy for the detection of common autosomal trisomies
• High sensitivity and specificity across common trisomies, sex chromosome aneuploidies and clinically significant microdeletions
• Reliable performance in samples with fetal fractions as low as 3%
• Consistent analytical and clinical performance demonstrated through extensive validation studies

Clinical performance based on internal data of 60,000 samples