Vistara Non-invasive prenatal screening test to detect monogenic fetal diseases

The Vistara test is a non-invasive prenatal test used to screen the fetus for 25 serious genetic disorders.

These disorders can cause skeletal abnormalities, heart defects, multiple congenital anomalies, and/or intellectual disability.

General characteristics of the test:

The test is performed using unique methods based on single nucleotide variants (SNVs), combined with advanced bioinformatics analysis using artificial intelligence.

— Vistara™ NIPT includes 25 of the most common autosomal dominant and X-linked dominant disorders involving 30 genes that cause severe skeletal, cardiovascular, and neurological conditions.

The monogenic disorders included in the Vistara test have the following characteristics:

• These conditions are difficult or impossible to detect by ultrasound
• Other NIPTs do not detect these disorders
• Invasive testing does not guarantee an accurate diagnosis
• Patient or family history is usually not associated with these mutations, as they typically occur de novo

Who is recommended to undergo screening for gene mutations:

• Advanced paternal age (if the father is 40 years of age or older)
• Pregnant women with ultrasound markers who do not wish to undergo amniocentesis
• Individuals with a relevant family history
• Patients who wish to obtain as much information as possible

The test is applicable:

• In singleton pregnancies from 9 weeks of gestation
• In pregnancies conceived using a donor egg and in surrogate pregnancies
• In cases where the pregnant woman herself does not have a genetic disorder
• The fetal fraction threshold used for interpretation of the test results is 4.5%

Absolute contraindications:

• Pregnancies with more than one fetus, or pregnancies involving fetal demise, vanishing twin, or fetal reduction
• Pregnancies with a gestational age of less than 9 weeks
• The Vistara test is not recommended if the mother has been diagnosed with a disorder included in the test panel. If the father has been diagnosed with a disorder included in the test panel, the father’s genetic test results must be provided to Natera.

Limitations of the method:

• Vistara is a screening test, meaning that it does not provide a definitive diagnosis. A positive Vistara screening result means that the fetus may be affected by the identified disorder. However, screening results alone cannot definitively determine whether the baby has the condition.
• The Vistara test is limited to the disorders included in the test panel

List of conditions tested and corresponding genes:

Required biological material

• Maternal venous blood