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SMART Test® NIPT

Discover the SMART Test® NIPT, an innovative prenatal care concept that combines advanced noninvasive prenatal testing (NIPT) with state-of-the-art ultrasound. This approach screens for genetic diseases, structural anomalies, and Down syndrome.

Moreover, SMART Test® NIPT is the ultimate non-invasive screening choice, offering a comprehensive and early assessment of your baby’s health. Take advantage of this advanced prenatal care option today for peace of mind and optimal health outcomes.

SMART Test Logo - London Pregnancy Clinic's innovative prenatal care concept that combines advanced noninvasive prenatal testing (NIPT) with state-of-the-art ultrasound.

Discover the SMART Test® process

SMART Test® is a two-step screening performed during a single appointment at our clinic. We recommend having the SMART Test® at 10 weeks.

First, we conduct an ultrasound using the advanced Vouson Expert 22 GE Healthcare technology. This expert scan aims to detect severe fetal anomalies like spina bifida. You will receive the scan results immediately.

Next, we perform a blood test for NIPT, using cutting-edge genetic technologies to check for fetal cell-free DNA (cfDNA) in maternal blood. The sample is sent to leading labs where scientists look for genetic mutations and chromosomal anomalies. Blood test results are usually available in 10 days, but it can take longer depending on the type of SMART Test®.

SMART test at 10 weeks by Voluson Expert 22

The SMART NIPT test combined ultrasound with NIPT for over 100 conditions

SMART Test® NIPT screens for:

  • Common chromosomal aneuploidies (including Down’s syndrome)

  • Rare chromosomal disorders (including trisomy 16)

  • Sex chromosome aneuploidies (including Turner syndrome)

  • Microdeletions (including DiGeorge syndrome)

  • Genetic diseases (including Noonan syndrome)

  • Cystic fibrosis (SMART Test® Genoma only)

  • Spina bifida

  • Severe heart defects (including transposition of great arteries)

  • Severe structural anomalies (including holoprosencephaly)

  • Accurate fetal sex determination (optional) 

Smart Test NIPT Explained

SMART TEST: terminology

The SMART TEST, which stands for ‘Structural, Chromosomal and Monogenic Anomalies Recognition Two-step Test,’ represents our innovative approach to combining smart ultrasound technology and smart genomics.

The SMART TEST is a registered trademark of the London Pregnancy Clinic. Where cutting-edge ultrasound technology meets state-of-the-art NIPT solutions for unparalleled prenatal screening.

What is The Smart Test?

The SMART Test (NIPT) stands out as the epitome of advanced non-invasive prenatal testing packages globally. It integrates cutting-edge ultrasound technology alongside the most sophisticated NIPT available. This comprehensive package encompasses screening not only for Down syndrome but also for approximately 100 distinct severe rare genetic diseases and structural anomalies.

This all-encompassing test comprises an expert fetal scan, PrenatalSafe Complete Plus, and includes GeneSafe.

Developed by the London Pregnancy Clinic, a leader in expert ultrasound and NIPT, the SMART Test offers the ultimate solution for parents seeking the most comprehensive assessment of their baby’s health and genetic profile. By combining state-of-the-art ultrasound techniques with advanced genetic screening technologies, the Smart Test is the pinnacle of options for parents who wish to gain the utmost knowledge about their unborn babies.

We recommend performing SMART Test at 10 weeks. Press here for more information about our Smart Test package.

What is Voluson Expert 22, why we must use it for Smart Test?

Voluson Expert 22: The king of ultrasound scanners.

  • Advanced Engineering: The Voluson Expert 22 results from cutting-edge engineering, showcasing the latest innovations in ultrasound technology. Its precision and capabilities make it a standout in medical imaging. Not every clinic/trust can afford it.
  • Exceptional Image Quality: This machine is renowned for its superior 2D, 3D and 4D imaging capabilities. It provides crystal-clear images, allowing for precise diagnostics and monitoring, especially during critical phases like the first trimester of pregnancy.
  • Unparalleled Ergonomics: The Voluson Expert 22 is designed with the user in mind. Its ergonomic layout ensures comfort during prolonged use, reducing strain on healthcare professionals and enhancing overall efficiency.
  • Specialized for First Trimester: This ultrasound machine is specially crafted for applications in the first trimester of pregnancy. It is optimized to capture detailed images of embryos during this crucial developmental stage.
  • Multiple High-Resolution Probes: To address the unique challenges of imaging small embryos (as small as 3 cm), our Voluson Expert 22 comes equipped with five distinct high-resolution probes. These probes are designed to excel in capturing detailed images of tiny structures.

In summary, the Voluson Expert 22 is a state-of-the-art ultrasound machine known for its exceptional image quality, user-friendly design, and adaptability. Its specialized focus on first-trimester applications, coupled with its array of high-resolution probes, makes it an invaluable tool in the realm of medical imaging.

Our promise: We will use only the best ultrasound technology available for our SMART TEST.

What is PrenatalSafe Complete Plus?

PrenatalSafe Complete Plus is an advanced and extensive NIPT option that screens for a wide range of genetic conditions, including microdeletions, single-gene disorders, and sex chromosome anomalies, in addition to Down syndrome and common chromosomal anomalies. The test is performed in a reputable Eurofins Genoma laboratory in Rome and/or Milano and uses only a small amount of maternal blood. However, it has a longer turnaround time due to the complexity of the test and is understandably the most expensive option of NIPT.

One of the advantages of using PrenatalSafe Complete Plus is that it provides parents with a comprehensive understanding of their baby’s genetic makeup. The test can detect about 100 different genetic and chromosomal conditions, including rare ones like Noonan syndrome, which are difficult to diagnose through traditional screening and even invasive diagnostic methods.

The major limitation of extended test is the lack of statistical validation for many of the conditions it screens for, as these conditions are rare and their prevalence in the population is low. Therefore, it is possible to get false-positive and inconclusive results. Additionally, not all the genes responsible for the listed genetic conditions are completely covered due to mutations variability.

Why 10 weeks is the best time to perform SMART TEST?

The ideal timing for your SMART Test is 10 weeks due to the following reasons:

  1. Seeking early reassurance about Down’s syndrome and rare diseases is a priority for you.
  2. At 10 weeks, we conduct the earliest fetal structural anomaly scan, which effectively rules out severe non-chromosomal defects.
  3. Opting for the test at this point allows ample time for a retest if the NIPT yields a no-call result, and you can also pursue alternative screening for Down’s syndrome and chromosomal anomalies through the Combined Test.
  4. In the event of a high-chance NIPT outcome, you have the option to undergo CVS (invasive testing) to promptly confirm or rule out any chromosomal issues, typically around 13 weeks or to have an amniocentesis after 15 weeks.
  5. Should our 10 Week Scan reveal any abnormal findings, we’ll ensure a swift referral to the Fetal Medicine Unit, saving you time and resources by avoiding inappropriate NIPT testing.
  6. An extended NIPT panel like PrenatalSafe Complete Plus can be a suitable test for cases involving specific structural fetal anomalies (for example thanatophoric dysplasia).
  7. PrenatalSafe due to its advanced technology has a low no-call results rate even at 10 weeks
What is the turnaround time for SMART TEST?

The turnaround time for the SMART TEST, given its complexity involving scans and extended NIPT, typically requires some duration to obtain the results.

Here is a breakdown of the expected results and timelines for the SMART TEST:

  1. Ultrasound Report: You will receive a printed and/or electronic form of the ultrasound report, along with images of the baby, usually immediately after the appointment.
  2. NIPT for Chromosomal Anomalies, Deletions, Duplications, Microdeletions, Sex Chromosomes Aneuploidy, and Fetal Gender Reveal (Optional): The results for this aspect of the test are typically available within 10-12 working days. We will contact you by phone and send a security-protected electronic PDF file with these results.
  3. NIPT for Genetic Syndromes: For the extended NIPT covering genetic syndromes, there is an additional waiting period of 8-10 working days. We will also contact you by phone and send a security-protected electronic PDF file with these results.

Upon receiving the final NIPT results, we will book you an appointment for our second scan and a discussion of the NIPT results.

Please note that the complete NIPT genetic test report, from start to finish, may take up to 22 working days to be fully processed and delivered to you.

In exceptional instances, the laboratory might require further testing on the samples, potentially causing a delay in obtaining the results.

Fulgent KNOVA NIPT at London Pregnancy Clinic. Most advanced NIPT in London!

SMART Test® NIPT: The most comprehensive fetal screening test can be performed from 10 weeks

The SMART TEST NIPT is a one-stop clinic which consists of two steps combining the most advanced ultrasound and extended NIPT

Pre-test NIPT genetic counselling offers a detailed chat with a specialist who explains the importance of prenatal screening. You will understand the pros and cons of different types of NIPT and other genetic tests. By talking to a genetic counsellor, you fully comprehend what the SMART Test® offers and can weigh its benefits. This guidance ensures you make the best choice for you and your baby.

Due to the complex nature of the SMART Test®, we strongly recommend booking a pre-test genetic counselling session now.

£990

SMART TEST® KNOVA

Lab provider: Fulgent Genetics (US)

NIPT brand name: KNOVA

  • From 10 weeks
  • Turnaround time: 7-14 working days
  • Number reports: a single complete report
  • No call results/redraw rate: 1.5%

CHROMOSOMAL/GENETIC CONDITIONS TESTED:

  • Down, Edwards, & Patau syndrome
  • Sex chromosomes aneuploidies
  • Trisomy 15,16 & 22
  • 12 microdeletions 
  • 56 single genes de novo mutations covering a large number of severe genetic syndromes (more than Prenatal Safe Complete Plus)
  • Fetal sex

Advantages:

  • Better coverage for chromosomal/genetic conditions
  • Quick 
  • Comprehensive report
  • Best NIPT for high NT
  • Cost-effective

Disadvantages:

  • Does NOT work for:
    • Twins
    • Vanishing twin syndrome
    • Donor egg pregnancies
  • No Cystic Fibrosis (CF) screening

£1490

SMART Test® Genoma

Lab provider: Eurofins Genoma (Italy)

NIPT brand name: PrenatalSafe Complete Plus

  • From 10 weeks
  • Turnaround time: 7-22 working days
  • Number reports: two separate reports: chromosomal and genetic
  • No call results/redraw rate: 0.35%-1.7%

CHROMOSOMAL/GENETIC CONDITIONS TESTED:

  • Down, Edwards, & Patau syndrome
  • Sex chromosomes aneuploidies
  • All trisomies
  • 9 microdeletions 
  • 25 single genes de novo mutations covering a large number of severe genetic syndromes (but less than KNOVA)
  • 5 inherited genetic diseases
  • Fetal sex (optional)

Advantages:

  • Cystic fibrosis (CF) screening
  • Works for:
    • Twins
    • Vanishing twin syndrome
    • Donor egg pregnancies
  • Low test failure rate

Disadvantages:

  • Fewer microdeletions/genetic conditions covered
  • Longer turnaround time
  • Expensive
  • Two separate NIPT results – stress of waiting

The ideal time to perform the SMART Test® is as early as possible in the pregnancy.

  • The optimal window for conducting the SMART TEST is 10-11 weeks of pregnancy. This timeframe offers several advantages. If the test results indicate a positive finding, you’ll have ample time to proceed with additional evaluations and, if necessary, diagnostic tests. 
  • However, we also offer flexibility in our testing approach. If you opt for the first scan between 12 and 16 weeks, we will guide you on when it’s best to schedule the second scan as part of our SMART package.
  • If your pregnancy has progressed beyond 16 weeks, we recommend reaching out to us before booking the package. We’ll discuss your specific circumstances and explore the most suitable options for you.
Frequently Asked Questions

Your questions answered

What Sets SMART Test® Apart from Other Extended NIPT Options?

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.

Why we screen for spina bifida as early as at 10 weeks?

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.

Is the SMART TEST a specific NIPT brand?

 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.

Is SMART TEST diagnostic?

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.

Who is NOT eligible for SMART TEST?

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.

What is the processing time for the SMART TEST NIPT blood sample?

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.

How are the SMART Test NIPT results communicated?

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.

What if my NIPT results show high chance for a rare chromosomal or genetic disease?

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.

Why father’s mouth swab is recommended for the SMART Test® Genoma?

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.

What are the limitations of SMART Test®?

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.

Why consider the SMART TEST after a diagnostic CVS or amniocentesis for babies with increased NT?

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.

What is Noonan syndrome?

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.

What is achondroplasia?

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.

SMART TEST vs. Panorama Microdeletions Screening.

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.

How SMART Test® Checks for Triploidy

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®

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.

Do you want to know more about your options of NIPT?

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