SMART Test® NIPT

There is a significant difference between SMART Test® and other extended NIPT options. For instance, the Panorama Microdeletions panel, one of the most well-known extended NIPT options, screens for five microdeletions. However, our extended NIPT lab providers offer more comprehensive screening. SMART Test® KNOVA checks for 12 microdeletions, while SMART Test® Genoma screens for nine microdeletions.

Additionally, the exceptional strength of the SMART Test® lies in its ability to screen for de novo genetic syndromes, which are more common than microdeletions as a group. This means the SMART Test® covers significantly more conditions compared to ordinary extended NIPT.

Moreover, the SMART Test® includes an expert ultrasound, which can detect a large proportion of structural anomalies that NIPT technology cannot identify. Therefore, the SMART Test® offers a more comprehensive and thorough assessment, providing expectant parents with invaluable insights into their baby’s health and development.

One of the SMART Test’s main targets is the early detection of spinal bifida, a common structural anomaly. Expert ultrasound is the gold standard for diagnosing spina bifida in the early stages of pregnancy. This advanced imaging technique ensures accurate detection, enabling timely intervention and optimal care for your baby.

Spina bifida is a birth defect in which the spine and spinal cord don’t form properly. It occurs when the neural tube, which develops into the brain and spinal cord, fails to close completely during early pregnancy. This condition can vary in severity from mild to severe.

Consequences of Spina Bifida

• Physical Disabilities: Depending on the severity, spina bifida can cause mobility issues, including paralysis.
• Bladder and Bowel Problems: Many individuals with spina bifida have difficulties with bladder and bowel control.
• Ventriculomegaly: This is a buildup of fluid in the brain, which may require surgery to manage.
• Learning Difficulties: Some children with spina bifida might experience learning challenges or cognitive impairments.

Early detection through screening allows for better planning and management of these potential complications, ensuring the best care and support for the child and family.

Arrange your SMART Test® now to ensure your baby’s spine is not affected by spina bifida.

 No, it’s not. Instead, it represents a clever approach that combines cutting-edge ultrasound technology and expertise with the most advanced NIPT available. This unique approach ensures the broadest coverage of conditions screened during pregnancy.

No, the SMART TEST is not a diagnostic test. It is a screening test that provides valuable information about the probability or likelihood of certain genetic conditions in the developing fetus. If the SMART TEST indicates a positive finding or an increased risk of a genetic condition, further diagnostic tests may be recommended to confirm the diagnosis.

Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, are invasive procedures that directly examine the fetal genetic material and provide a definitive diagnosis of genetic conditions. These tests carry a small risk of miscarriage and are typically offered when there is a significant concern or when screening tests like the SMART TEST suggest a potential issue.

In summary, the SMART TEST is a non-invasive screening tool that helps assess the risk of certain genetic conditions during pregnancy. It is an important step in identifying pregnancies at higher risk, but a confirmed diagnosis is typically obtained through diagnostic tests if necessary.

The SMART TEST NIPT can not be used in pregnancies with:

• triplets
• twins (KNOVA)
• vanishing twin syndrome (KNOVA)
• donor egg IVF pregnancies (KNOVA)
• a history of or active malignancy
• a pregnancy with fetal demise 
• a history of bone marrow or organ transplants
• mosaicism for the parents
• maternal aneuploidy (chromosomal abnormality)
• in women under the age of 18

Please note that singleton IVF pregnancies are eligible for SMART Test® NIPT.

For this type of comprehensive NIPT, KNOVA boasts a very short turnaround time. Results are available within 7-10 days from the lab’s sample receipt. Please allow an additional three days for the sample transfer to California, USA.

The turnaround time for the PrenatalSafe Complete Plus test, from the moment of sample collection to receiving results, typically spans 15-22 working days. Please note that this timeframe includes the time required for both sample collection and transfer to the Eurofins Genoma laboratory in Rome, Italy, where the analysis is conducted.

Following your initial scan appointment, you will receive a comprehensive report from Dr. Fred Ushakov. This report is available both as a hard copy and in PDF format, securely delivered via our cloud system, Tricefy.

We will receive your NIPT results and contact you accordingly. The process differs between KNOVA and Genoma. For KNOVA, you will receive one comprehensive report covering all chromosomal and genetic conditions. If any high-risk conditions are detected, the report will include patient resource information. This explains the condition in a way that parents can easily understand.

Genoma’s PrenatalSafe Complete Plus comes in two separate reports. One set covers chromosomal conditions, and the other addresses single-gene disorders. The PrenatalSafe Complete Plus report is technical and may not be easily understood by those not working in genetics.

Once we receive these NIPT test results from the laboratory, our clinician will carefully review and approve them. Subsequently, one of our friendly clinical staff members will contact you by phone to explain and interpret the results. We will also send you a digital copy of the test results through Tricefy.

If there is any positive genetic finding, we will arrange counselling with our genetic counsellor. They will explain the significance and implications, and advise on further tests you may need. This comprehensive approach ensures you clearly understand your test results and their implications.

If your SMART Tesat NIPT result indicates a high likelihood of a rare genetic disease, our medical team will promptly contact you. Our clinician will provide a detailed explanation of the recommended next steps.

We will facilitate a referral to our Private Genetic Counselor for comprehensive counselling and potential further referral for diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis.

We understand the importance of support during this process. To assist you, our clinic will cover the cost of the initial private genetic counselling session. However, please be aware that follow-up genetic consultations and the expenses associated with invasive diagnostic procedures and genetic tests are not covered by our clinic.

Simultaneously, we will arrange an expert fetal scan conducted by Dr. Fred Ushakov as swiftly as possible. This specialized scan aims to provide a targeted examination of the fetus, focusing on identifying any structural findings that may be associated with the specific genetic condition under consideration.

The SMART Test® Genoma utilizes the PrenatalSafe Complete Plus NIPT platform, known for its enhanced accuracy. To further enhance precision, this platform can benefit from a small sample of the father’s DNA, collected through a painless cheek swab known as a mouth or buccal swab. While this step is optional, we highly recommend it.

Modern DNA analysis techniques have evolved to be faster and more precise, enabling the use of even tiny DNA samples for analysis. This advancement ensures that the testing process is efficient and delivers reliable results.

We do not need a paternal sample for SMART Test® KNOVA.

Both Knova and PrenatalSafe Complete Plus, extended NIPT panels included in the SMART Test®, provide valuable information about your baby’s health during pregnancy. However, like any screening test, they have limitations. 

False Positives: Sometimes, the test may indicate a positive result for a specific condition when the baby doesn’t actually have that condition. This can happen due to various factors, including biological variability and limitations in the screening process. It’s essential to remember that a positive result from KNOVA or PrenatalSafe Complete Plus is not a definitive diagnosis.

False Negatives: On the other hand, the test may yield a negative result even if the baby does have a particular condition. This can occur if the baby’s genetic material in the mother’s bloodstream is not representative of the entire fetal genetic makeup or if the condition is caused by a rare mutation not covered by the test. A negative result doesn’t guarantee the baby is free from all conditions checked.

Inconclusive Results: In some cases, the test may not provide a clear result due to technical reasons or insufficient fetal DNA in the maternal blood sample. This is known as an inconclusive result. This means that the test couldn’t definitively determine the status of certain conditions.

It’s crucial to understand that KNOVA and PrenatalSafe Complete Plus are screening tests designed to assess the likelihood of specific genetic conditions in your baby. If the test indicates a positive result or if you have concerns about the limitations mentioned above, further diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis may be recommended to confirm or rule out specific conditions. These diagnostic tests provide more definitive information but come with a small risk of miscarriage.

We strongly recommend genetic counselling before the SMART Test®. This allows you to discuss any questions or concerns with our friendly geneticist. Additionally, it ensures you receive the best care for you and your baby.

Increased NT (nuchal translucency) can be associated with genetic conditions like Noonan, Kabuki syndromes, or skeletal dysplasias. While standard invasive tests like CVS or amniocentesis with PCR and microarrays are diagnostic for chromosomal defects and microdeletions, they may not definitively rule out Noonan syndrome. To diagnose it, a more advanced exome test is necessary. However, exome testing isn’t always an option due to its cost and strict eligibility criteria under the NHS.

SMART Test® KNOVA screens for most mutations associated with Noonan syndrome. It’s important to note that it’s not a diagnostic test. There is a possibility of false-positive and false-negative results due to unknown mutations.

Furthermore, the SMART Test includes crucial early screening for heart defects. Many fetuses with increased NT also have severe congenital heart defects (CHD), and early fetal cardiac examination can detect up to 80% of these cardiac anomalies. This combined approach provides a more thorough evaluation of your baby’s health.

KNOVA or PrenatalSafe Complete Plus (included in SMART Test®) screen for mutations associated with Noonan Syndrome:

Noonan syndrome is a genetic disorder characterized by various physical and developmental features. It can affect multiple systems of the body and is primarily caused by mutations in genes related to the Ras-MAPK pathway, with PTPN11 being one of the most commonly affected genes. Notably, Noonan syndrome often arises as a de novo mutation, even in healthy parents, and it is associated with a range of clinical features.

Incidence: The incidence of Noonan syndrome is estimated to be approximately 1 in 1,000 to 1 in 2,500 live births, making it one of the more common genetic syndromes. While it can occur in both males and females of all ethnic backgrounds, it may go undiagnosed or underdiagnosed due to the variability of its features and the fact that some individuals have mild or atypical symptoms.

Prenatal Screening: During prenatal screening, Noonan syndrome is often associated with increased nuchal translucency (NT), which is a measurement of the thickness of the fluid-filled space at the back of the baby’s neck. An increased NT measurement may raise suspicion of Noonan syndrome and prompt further genetic testing and evaluation.

Physical Features: Individuals with Noonan syndrome often exhibit characteristic facial features, such as widely spaced eyes, a short neck, low-set ears, and a webbed neck. These features can vary in their expression and may become less noticeable with age.

Heart Abnormalities: Many people with Noonan syndrome have congenital heart defects, which can range from mild to severe. These heart issues may require medical intervention or surgery.

Developmental Delays: Children with Noonan syndrome may experience developmental delays, including speech and motor skill delays. However, with appropriate therapies and support, many can achieve their developmental milestones.

Growth Issues: Growth may be affected, resulting in shorter stature than average. Growth hormone therapy may be considered to help increase height.

Other Health Concerns: Noonan syndrome can also impact various systems of the body, leading to potential issues with bleeding and clotting, skeletal abnormalities, vision and hearing problems, and an increased risk of certain cancers.

Treatment: Management of Noonan syndrome typically involves a multidisciplinary approach. Medical care may address heart issues, developmental delays, and other health concerns. Early intervention and therapies can help children with Noonan syndrome reach their full potential.

Prognosis: The outlook for individuals with Noonan syndrome varies depending on the severity of the condition and the presence of associated health issues. Many individuals with Noonan syndrome lead fulfilling lives with appropriate medical care and support.

Genetic Counselling: Families affected by Noonan syndrome may benefit from genetic counselling to understand the genetic basis of the condition, the risk of future pregnancies being affected, and the possibility of de novo mutations occurring.

Overall, Noonan syndrome is a relatively common genetic disorder with a wide range of clinical manifestations. Increased nuchal translucency during prenatal screening can be a strong indicator of the condition, leading to further evaluation and diagnosis. With early detection, appropriate medical care, and ongoing support, individuals with Noonan syndrome can lead healthy and fulfilling lives.

KNOVA or PrenatalSafe Complete Plus (included in SMART Test®) screen for mutations associated with achondroplasia:

Achondroplasia is a rare genetic disorder that primarily affects bone growth and development. It is characterized by short stature, disproportionate limbs, and various skeletal abnormalities. Achondroplasia is caused by a specific mutation in the FGFR3 gene and follows an autosomal dominant inheritance pattern. Notably, it often arises as a de novo mutation, meaning it occurs spontaneously in individuals with no family history of the condition.

Here are key points about achondroplasia:

Genetic Basis: Achondroplasia is primarily caused by a mutation in the FGFR3 gene, specifically the G380R mutation. This mutation leads to abnormal cartilage and bone development.

Incidence: Achondroplasia is a rare genetic disorder, with an estimated incidence of about 1 in 15,000 to 40,000 live births. It is one of the most common forms of short-limbed dwarfism.

Physical Features: Individuals with achondroplasia typically have short stature, with disproportionately short arms and legs compared to their trunk. They may also exhibit characteristic facial features, such as a prominent forehead, a flattened nasal bridge, and a small chin.

Skeletal Abnormalities: Achondroplasia can result in various skeletal abnormalities, including bowed legs, a curved spine (kyphosis and lordosis), and joint problems. These issues can lead to mobility challenges.

Health Concerns: People with achondroplasia may experience health complications, such as spinal stenosis (narrowing of the spinal canal), respiratory difficulties, and ear infections. Regular medical monitoring and management of these issues are essential.

Developmental Milestones: Children with achondroplasia often achieve developmental milestones on a typical schedule. Early intervention and physical therapy can be helpful in addressing mobility and orthopaedic concerns.

De Novo Mutations: Many individuals with achondroplasia have no family history of the condition. Instead, the condition often arises as a de novo mutation in the FGFR3 gene. In such cases, healthy parents can have a child with achondroplasia due to this spontaneous genetic change.

Prognosis: With proper medical care and support, individuals with achondroplasia can lead healthy and fulfilling lives. Early interventions, orthopaedic surgeries if necessary, and ongoing medical monitoring are important aspects of managing the condition.

Genetic Counselling: Families affected by achondroplasia may benefit from genetic counselling to understand the genetic basis of the condition, its de novo nature, and the potential risks associated with future pregnancies.

Achondroplasia is a complex genetic disorder with unique physical characteristics, but individuals with the condition can thrive with appropriate care and support. Early diagnosis, medical interventions when needed, and access to specialized medical care contribute to positive outcomes for those living with achondroplasia.

When considering genetic screening options during pregnancy, it’s essential to understand the differences between tests like SMART Test and Panorama, especially when it comes to screening for microdeletions.

SMART Test®:

SMART Test@ uses KNOVA or PrenatalSafe Complete Plus NIPT, an extensive genetic screening panel that covers up to 100 rare genetic diseases, including a comprehensive set of microdeletions. Microdeletions are specific genetic conditions where a small portion of a chromosome is missing.

SMART Test provides comprehensive coverage, including all microdeletions checked by Panorama and many more. This means it not only screens for 22q deletion (DiGeorge syndrome) but also checks for other microdeletions and genetic variations that may be associated with rare diseases.

By choosing SMART Test, you’re opting for a broader and more comprehensive genetic screening, which can provide insights into a wide range of genetic conditions and syndromes. It offers a more extensive look into your baby’s genetic health.

Panorama Microdeletions Screening:

Panorama is a prenatal screening test that includes screening for a specific set of microdeletions, including 22q deletion (DiGeorge syndrome), as part of its package. It screens for five specific microdeletions.

While Panorama provides valuable information about these selected microdeletions, it has a more focused scope compared to SMART Test. It does not offer the same breadth of coverage for rare genetic diseases beyond the included microdeletions.

In summary, the SMART Test offers a much more extended genetic screening, encompassing a comprehensive range of microdeletions and rare genetic diseases, including those checked by Panorama. By choosing the SMART Test, you are opting for a broader and more inclusive screening that can provide a more extensive view of your baby’s genetic health.

Checking for triploidy, a relatively common chromosomal anomaly, is challenging for many genetic tests, including NIPT. Triploidy involves tripling the entire set of chromosomes, making it difficult to detect through conventional methods that differentiate chromosomal fractions. This condition leads to severe fetal issues, including first-trimester growth restriction and multiple anomalies.

Among various NIPT options, only Panorama claims it can screen for triploidy. However, there is no validation data supporting Panorama’s performance. In contrast, SMART Test® uses a different and more reliable approach. Our expert scan detects specific ultrasound features and anomalies typical for triploidy, visible as early as 10 weeks.

In this case, we will opt out of NIPT and refer the parents for diagnostic testing (CVS). This will ensure they receive the most accurate assessment of their baby’s condition. 

Monday, Tuesday, and Wednesday are the best days to perform the SMART Test® due to the logistics associated with the international shipping of the blood sample. Taking the blood sample at the beginning of the week ensures it arrives at the lab before the weekend, allowing timely analysis and leading to a faster turnaround time.

Samples taken later in the week or over the weekend face shipping delays or must wait for international transfer. Although the sample can be stored at room temperature for up to 7 days without affecting test accuracy, this delay increases the waiting time for results.

To address this demand, Dr Fred Ushakov specifically schedules clusters of appointments at the beginning of the week. Therefore, scheduling your SMART Test® early in the week is ideal for prompt and efficient processing.