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Smart Test

The SMART TEST NIPT is an innovative concept in prenatal care that combines the power of non-invasive prenatal testing (NIPT) with ultrasound. This groundbreaking approach screens for a diverse range of rare diseases and anomalies and also incorporates accurate testing for Downs syndrome.

The SMART TEST NIPT offers parents comprehensive information and crucial insights into the baby’s development by integrating advanced genetic testing and visual ultrasound information. This state-of-the-art package aims to improve care and outcomes for both mother and baby by catching potential issues early.

SMART TEST: The most advanced NIPT package globally

Introducing a London Pregnancy Clinic exclusive: The ultimate non-invasive screening choice for a complete and early assessment of your baby’s health. 

SMART TEST – anomalies, rare diseases and syndromes we screen for:

  • 22 chromosomal aneuploidies (including Down’s syndrome)
  • Sex chromosome anomalies (including Turner syndrome)
  • Rare chromosomal deletions and duplications <7Mb
  • 9 clinically significant microdeletions (including DiGeorge syndrome)
  • 44 different genetic disorders (including Noonan syndrome)
  • 5 inherited monogenic disorders (including cystic fibrosis)
  • Majority severe structural anomalies (including spina bifida)
  • Majority severe heart defects (including transposition of great arteries)
  • Accurate fetal sex determination (optional) 
SMART test at 10 weeks by Voluson Expert 22

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

Smart Test NIPT

  • SMART TEST is the only test that covers diverse structural anomalies and rare chromosomal and genetic diseases as early as at 10 weeks of pregnancy

  • Groundbreaking 3D ultrasound technology: Voluson Expert 22

  • Two early anomaly scans by the expert: Dr Fred Ushakov

  • PrenatalSafe Complete Plus (with GeneSafe): two separate advanced NIPT by Eurofins Genoma (Rome Italy)

  • Only ONE tube of blood is needed for NIPT

  • Competitive pricing for the most expensive medical technology

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.

This all-encompassing test comprises two expert fetal scans, 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.

What is GeneSafe?

GeneSafe is an advanced form of non-invasive prenatal testing (NIPT) specifically designed for the screening of single gene disorders. This innovative approach targets rare diseases like Noonan syndrome, cystic fibrosis, or achondroplasia, among others.

GeneSafe is performed by the same biotechnological company, Eurofins, which offers PrenatalSafe and both advanced tests together comprise PrenatalSafe Complete Plus.

Unlike traditional NIPT, which focuses primarily on common chromosomal anomalies, GeneSafe’s specialized methodology allows for the detection of specific single gene disorders. This advancement in technology offers expecting parents the ability to assess the risk of these less common genetic conditions during pregnancy without the need for invasive procedures.

Please note that the specific details, availability, and accuracy of GeneSafe may vary based on the latest medical developments and research. It’s recommended to consult with medical professionals or relevant sources for the most accurate and up-to-date information about this specific NIPT technology.

Which genetic technology is employed by PrenatalSafe?

PrenatalSafe is based on whole genome sequencing (WGS). WGS represents a cutting-edge approach in non-invasive prenatal testing (NIPT), delivering a thorough examination of an unborn baby’s genetic composition. This progressive method delves into the entirety of the genome, delivering an unmatched understanding of potential chromosomal irregularities and genetic disorders. Unlike the constraints linked to the Harmony test like types of NIPT, the prominence of whole genome sequencing has surged due to its extensive coverage and precision.

Why PrenatalSafe Complete Plus needs only one tube of your blood?

PrenatalSafe utilizes a remarkably efficient process requiring only a single blood tube for testing. This streamlined approach is possible due to the advanced technology and techniques the Lab employs. Through careful sample handling and sophisticated analysis methods, scientists can extract the necessary genetic information from just one blood sample, minimizing the inconvenience and discomfort associated with multiple blood collections. We have chosen this test due to our commitment to providing you with accurate and comprehensive results while ensuring your comfort.

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.

How is the SMART TEST performed?

The SMART TEST consists of two expert ultrasound scan appointments, with a single tube blood sample for advanced NIPT taken immediately after the first scan.

Step One (Scan and Blood Test) at 10-11 Weeks:

At the 10 Week Scan, led by Dr Fred Ushakov, we conduct a thorough examination typically using both transabdominal and transvaginal ultrasound techniques. There’s no need for a full bladder; we’ll ask you to empty it just before the scan.

This detailed scan aims to confirm the pregnancy is progressing normally and accurately determine how far along you are. We carefully examine the baby’s development, focusing on screening for 10 serious structural anomalies and assessing the nuchal translucency (NT).

During this scan, you’ll receive both 2D and 3D images and videos directly on your mobile for a more interactive experience. We’ll also provide printed copies of the best images.

Should the pregnancy be at least 10 weeks along and progressing as expected, we’ll discuss the PrenatalSafe Complete Plus NIPT option with you, addressing any queries or concerns.

Maternal Blood Sample for NIPT: Following the scan and discussion, if you opt for the extended NIPT, you’ll sign an informed consent form for the test.

The PrenatalSafe Complete Plus involves collecting a single blood sample from your arm.

Additionally, we can include a mouth swab from the father for a more thorough and precise genetic assessment of the baby, though this is optional.

Step Two (Scan) at 13-16 Weeks

Dr Fred Ushakov conducts our Early Fetal Scan and Early Fetal Echocardiography. This scan comprehensively examines the baby’s anatomy from head to toe.

Our extended ultrasound protocol exceeds the standard NHS guidelines for the 20-week Fetal Anomaly Screening Programme (FASP) scan. It offers advanced features, such as a detailed examination of the fingers, for a more thorough assessment.

Usually, we can conduct this scan transabdominally using the advanced diagnostic capabilities of the Voluson Expert 22 ultrasound machine. Sometimes, however, a transvaginal scan may be necessary for clearer views of certain structures. If you’re also considering screening for premature delivery, a transvaginal scan will be required to measure your cervical length.

After the Early Fetal Scan, Fred will discuss the results of the ultrasound and PrenatalSafe Complete Plus with you, address your questions, and assist in planning any further scans and tests that may be necessary for both you and your baby.


SMART TEST NIPT: Eurofins Genoma performs advanced PrenatalSafe Complete Plus NIPT

The SMART TEST NIPT is a package which consists of two steps combining the most advanced ultrasound and extended NIPT

Step One

10-11 weeks

10 Week Scan by Dr Fred Ushakov (Voluson Expert 22)

Screening for 10 Severe Structural Anomalies by Ultrasound:

  • Acrania
  • Spina bifida
  • Body stalk anomaly
  • Alobar Holoprosencephaly
  • Exomphalos (Omphalocele) with Liver
  • Pentalogy of Cantrell
  • Absence of arms, hands, legs or feet
  • Cloacal exstrophy 
  • Sirenomelia
  • Amniotic band syndrome

PrenatalSafe Complete Plus – Extended NIPT – single blood tube collection from mother + optional mouth swab from father:

  • 22 chromosomal aneuploidies (including Down’s syndrome)
  • Sex chromosome anomalies (including Turner syndrome)
  • Rare chromosomal deletions and duplications <7Mb
  • 9 clinically significant microdeletions (including DiGeorge syndrome)
  • 44 different genetic disorders (including Noonan syndrome)
  • 5 inherited single gene disorders (including cystic fibrosis)
  • Accurate fetal sex determination (optional)
Step Two

13-16 weeks

Early Fetal Scan and Early Fetal Echocardiography by Dr Fred Ushakov (Voluson Expert 22)

  • Screening for >50% Severe Structural Anomalies 
    • Facial anomalies
    • Neural tube defects
    • Early brain anomalies
    • All abdominal wall defects
    • Severe congenital diaphragmatic hernia (CDH)
    • Severe skeletal dysplasias
    • Limb defects (excluding talipes)
    • Absence of kidneys
    • Nuchal translucency/nuchal fold
    • Other physical anomalies
  • Screening for 80% Severe Heart Defects
    • Hypoplastic left heart syndrome (HLHS)
    • Tricuspid valve anomalies
    • Pulmonary atresia 
    • Transposition of great arteries (TGA)
    • Tetralogy of Fallot (TOF)
    • Double outlet right ventricle (DORV)
    • Common arterial trunk
    • Right aortic arch
    • Atrioventricular septal defects (AVSD)
    • Univentricular heart
    • Ductus venosus (DV) anomalies

Explanation of the NIPT results (PrenatalSafe Complete Plus)

  • address your questions
  • planning any further scans and tests 
  • 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

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:

  • twins or triplets
  • vanishing twin syndrome
  • 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?

The turnaround time for the PrenatalSafe Complete Plus test, from the moment of sample collection to receiving results, typically spans 15-20 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 scan report from Dr. Fred Ushakov, available as a hard copy and in PDF format, securely delivered via our cloud system, Tricefy.

We will provide you with two sets of NIPT results: one for chromosomal conditions (the first set) and another for single-gene disorders (the second set). Once we receive these NIPT test results from the laboratory, our clinician carefully reviews and approves 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.

Dr. Ushakov will further discuss the NIPT results during your second scan appointment. This comprehensive approach ensures that 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 TEST 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?

The SMART TEST 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.

What are the limitations of SMART TEST?

PrenatalSafe Complete Plus, which is an extended NIPT panel included in SMART TEST, provides valuable information about your baby’s health during pregnancy. However, it’s important to understand that, like any screening test, it has 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 PrenatalSafe Complete Plus is not a definitive diagnosis.

False Negatives: On the other hand, there’s a possibility that 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. It means the test couldn’t definitively determine the status of certain conditions.

It’s crucial to understand that PrenatalSafe Complete Plus is a screening test 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.

You can discuss any questions or concerns with us before the test to ensure 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 syndrome. 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.

The PrenatalSafe Complete Plus, a part of the SMART TEST, 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-negative results due to unknown mutations and false positives.

Furthermore, the SMART TEST includes early fetal echocardiography, which is crucial. Many fetuses with increased NT also have severe congenital heart defects (CHD), and fetal echo 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?

PrenatalSafe complete plus (included in SMART TEST)screens 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?

PrenatalSafe complete plus (included in SMART TEST) screens 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 utilises PrenatalSafe Complete Plus an extensive genetic screening panel that checks for approximately 100 chromosomal and genetic conditions. It provides comprehensive coverage across a wide range of genetic disorders and syndromes.

In contrast, UNITY Complete screens for a more limited set of conditions, covering approximately 12 different conditions, including 5 Inherited Genetic Diseases. While UNITY Complete provides valuable genetic insights, it is not as extensive in its coverage as SMART TEST.

However, UNITY Complete includes screening for two additional genetic syndromes: spinal muscular atrophy (SMA) and alpha-thalassemia.
UNITY Complete can also determine the fetal Rh blood group for Rh-negative mothers, providing valuable information about the baby’s Rh blood type.

SMART TEST PLUS is an option to enhance genetic coverage by adding the UNITY carrier screen to the SMART TEST.

By choosing SMART TEST PLUS, individuals can further expand their genetic screening to include a broader range of genetic conditions, potentially identifying carrier status for additional genetic disorders.

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 uses PrenatalSafe Complete Plus NIPT: an extensive genetic screening panel that covers approximately 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, 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 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.

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

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