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Basic vs Extended NIPT explained London Pregnancy Clinic.

Basic vs Extended NIPT

Written by London Pregnancy Clinic on . Posted in Blog, early pregnancy scan, NIPT, NIPT, Obstetrics, SMART TEST, Ultrasound. No Comments on Basic vs Extended NIPT

Basic vs Extended NIPT explained London Pregnancy Clinic.

Choosing the Best NIPT Clinic in London: A Comprehensive Guide for Expectant Parents

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Non-invasive prenatal testing (NIPT) has revolutionised prenatal screening by providing expectant parents with a highly accurate and safe method of detecting genetic conditions in the fetus. However, not all NIPTs are created equal. Understanding the difference between basic and extended NIPT is crucial for making informed decisions during pregnancy. In this article, we will explore the key distinctions between these two types of NIPT and the implications they have for prenatal care.

What is Basic NIPT?

Basic NIPT focuses primarily on detecting common chromosomal aneuploidies. These include:

  1. Trisomy 21 (Down syndrome): The most frequently occurring aneuploidy, characterised by an extra copy of chromosome 21. This condition is associated with a spectrum of developmental delays, intellectual disabilities, and physical features such as hypotonia, a flat facial profile, and a single palmar crease.
  2. Trisomy 18 (Edwards syndrome): Associated with severe developmental delays and physical abnormalities.
  3. Trisomy 13 (Patau syndrome): A rare but severe condition linked to profound developmental issues.
  4. Many basic NIPTs include sex chromosome aneuploidies, conditions that affect the number of X or Y chromosomes, such as Turner syndrome (45,X) and Klinefelter syndrome (47,XXY).

Basic NIPT typically provides results with high sensitivity and specificity for these conditions. Among the conditions tested, NIPT has the highest sensitivity and specificity for trisomy 21, and its diagnostic performance is lower for trisomy 18 and trisomy 13. However, sex chromosome aneuploidies are known to have a relatively low positive predictive value (PPV), which means they may result in a high false positive rate.

What is Extended NIPT?

Extended NIPT goes beyond the common aneuploidies to screen for additional genetic conditions. This comprehensive approach includes three distinct levels of genetic screening:

Aneuploidies

As with basic NIPT, extended screening includes common trisomies (Down, Edwards, and Patau syndromes) and sex chromosome aneuploidies, but it also assesses rarer autosomal aneuploidies affecting other chromosomes. Importantly, checking for additional syndromes does not compromise the performance of the test for trisomy 21 (Down syndrome).

Microdeletions

Microdeletions are variants of structural chromosomal anomalies. They involve the loss of small but critical segments of DNA within a chromosome. These missing segments can contain multiple important genes, leading to severe and sometimes life-altering conditions. Some microdeletions are more severe than Down syndrome (trisomy 21). Examples of microdeletion syndromes are:

  • 22q11.2 deletion syndrome (DiGeorge syndrome): Associated with heart defects, immune dysfunction, and developmental delays.
  • Cri-du-chat syndrome: Caused by a deletion on chromosome 5, leading to intellectual disability and distinctive physical features.
  • Prader-Willi and Angelman syndromes: Resulting from deletions on chromosome 15, with unique clinical presentations.

Single-Gene Disorders (monogenic syndromes)

Most genetic syndromes in children are related to monogenic (single-gene) disorders. These tests screen for mutations in individual genes that may cause de novo or hereditary conditions. Many of these single-gene disorders can be associated with physical and/or intellectual disabilities. Examples include:

  • Achondroplasia: A de novo mutation resulting in a common form of dwarfism.
  • Apert syndrome: A genetic condition characterised by craniosynostosis (premature fusion of skull bones), distinctive facial features, and fusion of fingers, often leading to functional and aesthetic challenges.
  • Noonan syndrome: A condition with features like heart defects, developmental delays, and distinct facial characteristics.
  • Cystic fibrosis: A hereditary condition affecting the respiratory and digestive systems.

Benefits of Extended NIPT

Extended NIPT provides a more detailed assessment of the fetus’s genetic health. It is particularly advantageous in the following scenarios:

  • High-risk pregnancies: For parents with a family history of genetic conditions, prior pregnancies affected by genetic disorders, advanced maternal and/or paternal age, or IVF pregnancies, extended screening can offer invaluable insights.
  • Unexplained ultrasound findings: When ultrasound findings or abnormalities suggest a potential genetic condition, extended NIPT can help clarify the diagnosis.
  • In cases of increased nuchal translucency (high NT), when parents prefer to avoid invasive diagnostic tests such as CVS or amniocentesis and opt for NIPT, it is essential to consider the limitations of basic NIPT. Basic NIPT does not screen for many genetic syndromes associated with increased NT. In such situations, extended NIPT can be a preferred option, as it includes screening for monogenic conditions like Noonan syndrome, Kabuki syndrome, severe skeletal dysplasias, and other syndromes, as well as microdeletions such as 22q11.2 deletion syndrome (DiGeorge syndrome).
  • An additional test after normal CVS or amniocentesis results for common trisomies (Down, Edwards, and Patau syndromes) and microdeletions/microduplications is often recommended. Unfortunately, for many parents, the standard invasive diagnostic test does not check for most genetic syndromes. To check for monogenic syndromes (single gene disorders), someone needs to have a test called exome or whole genome sequencing (WGS). Extended NIPT, looking for selected monogenic syndromes, will have an additional value in those cases. It cannot replace the exome but will screen for common and serious monogenic conditions.
  • Reproductive planning: Knowledge of single-gene disorders or microdeletions can inform reproductive decisions, such as choosing between continuing or terminating a pregnancy, planning for specialised care or interventions post-birth, and understanding the likelihood of recurrence in future pregnancies. This information also helps families prepare emotionally and financially for potential medical needs after birth.

Choosing Between Basic and Extended NIPT

While extended NIPT offers a broader scope of screening, it also comes with additional considerations:

  1. Cost: Extended NIPT is typically more expensive than basic NIPT, which may influence accessibility.
  2. Time-Consuming: Because of the complexity of the tests, some of the extended NIPTs can have much longer turnaround time.
  3. False Positives: Screening for microdeletions and sex chromosome aneuploidies may yield higher rates of false positives compared to basic NIPT, necessitating confirmatory diagnostic tests such as amniocentesis or chorionic villus sampling (CVS). Among the various conditions tested, extended NIPT shows the poorest performance for these two categories due to different biological and technical challenges.
  4. False-Negatives: All NIPTs are screening tests and can have false-negative results due to technological limitations and biological reasons. Many genetic conditions are associated with multiple genes, and these tests are designed to detect only known and relatively common pathogenic mutations, leaving rarer or unknown variants undetected.
  5. There is a small possibility of identifying a pathogenic single-gene variant (mutation) inherited from a parent. For example, a parent may carry a mild or subclinical form of a genetic disorder without being aware of it. Thorough genetic counselling is essential in such cases to evaluate the potential impact of this variant on the unborn child and to provide tailored advice for the family.
  6. Counselling Needs: The complexity of results from extended NIPT often requires detailed genetic counselling to help families understand the findings and their implications.
  7. Only highly advanced genomic laboratories can develop extended NIPT tests capable of detecting monogenic conditions and microdeletions. While these branded extended NIPTs are extensively evaluated and validated internally, they still lack independent validation. It is essential to mention that even basic NIPTs, such as the widely used TDL NIPT in London, have not been validated by external organisations, leaving the actual performance of these tests uncertain.

Genetic Labs and Their Brands of Extended NIPT

Fulgent Genetics (US), an accredited leader in clinical diagnostic genetic sequencing, provides the KNOVA test, which screens for a wide range of single-gene disorders and chromosomal anomalies. KNOVA features a meticulously curated panel of de novo genetic conditions designed to optimise diagnostic performance while minimising false-positive rates. Currently, KNOVA is regarded as one of the best choices for extended NIPT panels in the UK. At London Pregnancy Clinic we offer it as part of out state-of-the-art SMART Test NIPT screening method.

Natera’s (US) Panorama test, which includes screening for microdeletions, and the separate Vistara test, focuses on single-gene disorders. Natera was a pioneer in the development of extended NIPT; however, other companies now offer more comprehensive screening panels. Notably, the Panorama test for 22q11.2 deletion syndrome is the only extended NIPT validated by an independent study, demonstrating a detection rate of approximately 80% and a positive predictive value of about 50%.

Eurofins Genoma (Italy) offers the PrenatalSafe Complete Plus test, which screens for all aneuploidies, microdeletions, and selected monogenic disorders. A unique feature of this test is its ability to screen for cystic fibrosis and its applicability in cases of vanishing twin syndrome. However, PrenatalSafe Complete Plus has a limited monogenic disorders panel, a very long turnaround time, and is relatively expensive.

BGI Genomics (China) features the NIFTY Mono test, specialising in detecting monogenic conditions and other genetic anomalies. Nifty Mono offers probably the most comprehensive panel, screening for hundreds of chromosomal and genetic disorders. However, there are significant concerns regarding the use of patient data by BGI. In 2023, a group of MPs and peers in the UK submitted a letter to the Information Commissioner’s Office, requesting an investigation into privacy concerns surrounding BGI Group, particularly its NIFTY prenatal tests.

BillionToOne (US) offers the UNITY test, which uniquely combines carrier screening with fetal screening. UNITY screens for inherited single-gene disorders such as cystic fibrosis, sickle cell anaemia, and thalassemias, providing detailed insights into both parental and fetal genetic health. Notably, the UNITY and KNOVA panels are complementary, enabling enhanced diagnostic performance when used together. 

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Final Thoughts.

Choosing between basic and extended NIPT depends on individual circumstances, risk factors, and the level of detail desired in genetic screening. While basic NIPT provides robust detection of common aneuploidies, extended NIPT offers a deeper dive into genetic health by screening for microdeletions and single-gene disorders. It is anticipated that future developments in extended NIPT panels will increasingly focus on screening for monogenic (single-gene) disorders, given their clinical significance and the growing demand for more comprehensive prenatal testing options. Consulting with healthcare professionals and genetic counsellors can help families navigate these choices and ensure the best possible care for both the expectant mother and her baby.

When choosing a clinic for your NIPT, ensure they use advanced high-resolution ultrasound technology for the pre-test scan. High-quality imaging allows for a more accurate assessment of fetal health, which is crucial, particularly in the early stages of pregnancy (10-11 weeks). Avoid clinics with outdated or low-resolution scanners, as this can compromise the accuracy of the scan and potentially impact the performance of your NIPT.

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Women’s Health Internship

Written by London Pregnancy Clinic on . Posted in Blog, Prenatal Care, Women's health. No Comments on Women’s Health Internship

Modern, minimalist illustration of three diverse female health specialists at London Pregnancy Clinic, dressed in medical scrubs, working with medical charts and a laptop in a clean, clinical setting, designed in flat graphic style with soft pastel colors, representing inclusivity and professionalism in women's health.

Nurturing Future Women’s Health Leaders

Olivia Bosworth’s internship journey at LPC.

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Meet Olivia, a dedicated Global Health major from the U.S., interning at the London Pregnancy Clinic (LPC) as she journeys towards becoming a Maternal Fetal Medicine physician. Discover the invaluable experiences she’s gained and the profound impact of her work.

Embarking on a journey from the U.S. to London, Olivia’s story at the London Pregnancy Clinic is one of growth, discovery, and commitment to maternal health. This blog delves into how her internship at LPC has been pivotal in her pursuit of a career in Maternal Fetal Medicine, providing her with unparalleled insights into the dynamics of prenatal care.

Immersion in London’s Medical Community

“I immediately knew it would be the perfect fit,” Olivia reflects. Her year abroad is dedicated to soaking up every element of British healthcare, with LPC serving as a comprehensive backdrop. This chance to juxtapose various healthcare practices has been incredibly beneficial, broadening her perspective for her future medical career.

Multifaceted Role in Prenatal Care

Olivia’s daily duties at LPC are diverse and impactful. As part of the medical assistant team, she’s pivotal in the clinic’s day-to-day operations, often starting her day at reception, assisting with patient check-ins and administrative tasks.

Her role extends beyond these duties; Olivia collaborates closely with a wide range of women’s health specialists, including gynaecologists, obstetricians, and early pregnancy scan specialists. This collaboration has enriched her understanding of prenatal care comprehensively.

These interactions allow Olivia to witness the interdisciplinary nature of women’s healthcare firsthand. She assists in clinical settings, engages in patient care planning discussions, and observes intricate medical procedures. Exposure to various specialities not only boosts her medical knowledge but also deepens her appreciation for the collaborative efforts needed to deliver top-notch prenatal care.

In addition to her administrative responsibilities, Olivia enhances LPC’s digital outreach. She contributes to the LPC YouTube channel, aiming to educate and inform a global audience about pregnancy. Here, she hosts videos discussing topics like pregnancy trimesters and LPC’s pregnancy scan timeline.

Lessons in Compassion and Professionalism

LPC’s approach to handling sensitive situations profoundly impacts Olivia. Observing the staff’s compassionate delivery of difficult news has underscored the importance of empathy in healthcare. These experiences have shaped her professional and personal growth significantly.

Olivia’s Internship experience

Every day presents new challenges and learning opportunities, fuelling Olivia’s passion for maternal-fetal medicine. “I’ve gained extensive knowledge in prenatal care, especially in recognising the significant impact of consistent sonography throughout pregnancy,” she comments. Olivia’s narrative powerfully illustrates how crucial hands-on experience is for those committed to making a healthcare impact.

She adds, “Seeing the joy of expectant mothers upon receiving positive Non-invasive Prenatal Testing (NIPT) results or viewing a 3D scan of their baby is both captivating and heartwarming.”

Watch Olivia’s full interview below. 

Building a Foundation for Excellence in Women’s Health

At LPC, we’re dedicated to training the next wave of healthcare professionals, with a focus on prenatal care. Our internship program not only provides practical experience but also fosters future field leaders. Our interns inject fresh perspectives and energy into our clinic, crucial for our ongoing improvement and innovation.

Final Thoughts

Olivia’s internship at LPC is more than just a career step; it’s a leap towards making a real difference in family lives. Her experiences highlight the value of LPC’s internship program in shaping healthcare’s future leaders.

We ensure our interns engage in all clinic aspects, from patient care to community outreach via our digital platforms. This comprehensive approach equips them for future healthcare challenges and opportunities, providing the necessary skills to excel in any medical setting.

Inspired by Olivia’s journey? Keen to contribute to pioneering prenatal care? Visit our careers page to learn more about LPC’s internship opportunities and how you can join a team that champions growth, compassion, and excellence in healthcare.

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Blood Tests During Pregnancy

Written by London Pregnancy Clinic on . Posted in Blog, Fertility, Gynaecology, Prenatal Care, Women's health. No Comments on Blood Tests During Pregnancy

Modern minimalist illustration of a hand holding a syringe, in soft light orange and baby pink tones, symbolising blood tests during pregnancy at London Pregnancy Clinic.

Blood Tests During Pregnancy:

Ensuring the Health of You and Your Baby.

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At London Pregnancy Clinic, we understand the importance of precise blood tests for monitoring health and diagnosing conditions during pregnancy. Explore the essential tests that help ensure the well-being of both mother and child.

While blood tests during pregnancy aren’t essential, they can significantly enhance your preparedness. Your healthcare provider may recommend a tailored series to monitor your health and your baby’s growth. These tests are invaluable for early detection of potential health issues, enabling prompt and effective interventions. At London Pregnancy we offer a wide variety of tests, which in this blog, we will dive into.

Why Consider Blood Tests During Pregnancy?

Blood tests during pregnancy offer invaluable insights into both maternal and fetal health, enabling better preparedness and care. Here are several compelling reasons to consider these tests:

Monitor Maternal Health: Blood tests, such as the complete blood count (CBC) and liver function tests, assess the mother’s overall health. They check for conditions like anaemia, infections, and gestational diabetes that may require close monitoring or specific treatments.

Assess Fetal Health and Development: Genetic screening tests can detect chromosomal conditions such as Down syndrome, Edwards syndrome, and Patau syndrome. These tests, often paired with ultrasounds, help evaluate the risk of certain genetic disorders, guiding further prenatal care. We offer Non-Invasive Prenatal Testing (NIPT) from 10 weeks of pregnancy and can help you choose the right NIPT for you!

Identify Rh Incompatibility: Determining the mother’s blood type and Rh factor is crucial. Rh incompatibility can lead to serious complications, necessitating special treatment to safeguard the baby’s health. At LPC we currently don’t offer Rh factor blood test (at the time of writing April 2024). However, during your NHS antenatal checks you will be able to get it. Read more on Rhesus Disease RhD on the NHS website.

Screening for Infectious Diseases: Screening for infectious diseases like hepatitis B, HIV, and syphilis is critical. Identifying these infections early allows for steps to be taken to prevent transmission to the baby, ensuring a safer delivery.

Provide Baseline Information: The results from initial blood tests create a baseline that helps monitor the pregnancy’s progression. Any significant changes can be quickly identified, allowing for timely interventions.

Overall, considering blood tests during pregnancy is vital for early detection of potential issues. These tests enable timely and effective interventions, ensuring the health and wellbeing of both mother and baby.

Why Consider Blood Tests for Pregnancy Confirmation?

Pregnancy tests, including urine and blood tests, are designed to confirm if you are pregnant. Urine tests are widely used due to their convenience and availability over-the-counter. However, blood tests, particularly the Beta HCG (Human Chorionic Gonadotropin) test, provide more comprehensive insights.

The Beta HCG test detects the hormone produced by the placenta shortly after implantation, appearing in the blood about 11 days post-conception, which is slightly earlier than in urine. It is essential for confirming early pregnancy and is available in two types: the Qualitative HCG Test, which simply indicates pregnancy with a ‘yes’ or ‘no’, and the Quantitative HCG Test, which measures exact HCG levels in the blood for high accuracy.

Unlike urine tests, the Beta HCG test requires a blood sample taken in a healthcare setting and is more sensitive, offering early detection and additional information such as the approximate age of the fetus and potential complications. This makes blood tests a vital tool for early and accurate pregnancy confirmation.

What is the AMH Blood Test?

The AMH blood test measures the levels of AMH in a woman’s blood, a hormone produced by ovarian follicles. It serves as a reliable marker of ovarian reserve, indicating a woman’s potential fertility. This test is instrumental for clinicians and fertility specialists to predict a woman’s response to fertility treatments, like in vitro fertilisation (IVF).

AMH levels provide a reliable measure of a woman’s ovarian reserve, although they do not directly correlate with egg quality. Low AMH levels might suggest a diminished ovarian reserve, posing concerns for natural conception or IVF. Conversely, high AMH levels might indicate conditions like Polycystic Ovary Syndrome (PCOS).

AMH testing is crucial in assisted reproductive technology, aiding in the development of personalised IVF treatment strategies. Women with low AMH may respond less to ovarian stimulation, affecting egg retrieval numbers and IVF success rates. High AMH levels can increase the risk of Ovarian Hyperstimulation Syndrome (OHSS), especially under strong fertility medication effects.

Preparing for Your Blood Test

Our blood tests at London Pregnancy Clinic are perfect for accurately confirming pregnancy, monitoring early viability, and following up post-IVF. We offer convenient same-day appointments that fit your schedule. To ensure accurate results, follow the specific instructions provided by your healthcare professional. These may include:

  • Fasting Requirements: You might need to avoid all food and drinks, except water, for up to 12 hours before certain tests.
  • Medication Guidelines: It may be necessary to pause specific medications temporarily. This will prevent any interference with your test results.

Adhering to these guidelines is crucial. Incorrect preparation can affect your results, possibly requiring a repeat of the test. Check-in with your care provider about what you should do! At London Pregnancy Clinic you can call our reception and our team will gladly help with any queries!

Please note, that these tests require a referral from an existing provider. We will send the results to both you and your nominated healthcare provider upon request. 

Get to Know Your Phlebotomist

Molly, one of our skilled phlebotomists, ensures that your blood tests are conducted smoothly, providing a comforting presence during the process.

Final Thoughts

The results from these tests provide a snapshot of your health and that of your baby, allowing your healthcare provider to tailor your prenatal care effectively. Remember, it’s crucial to discuss any concerns with your healthcare provider.

Our selection of blood tests is available exclusively to patients holding a referral from their healthcare provider, ensuring you receive the highest standard of care. We send samples to a partnered laboratory for precise analysis. If you need a referral or interpretation of blood test results, our friendly reception team is ready to help you book an appointment with the appropriate consultant. Please remember, if you’re coming for a pregnancy scan, our sonographer cannot refer you for a blood test. Referrals for blood tests are only possible through an appointment with our Consultant Obstetricians or Gynaecologists. At the LPC, we’re here to support you from the very first step.

Want to book a blood test with us? Visit our Blood Tests page or give us a call! If you already had your pregnancy confirmed, we recommend booking an early pregnancy scan to check for the baby’s development.

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Innovations in Pregnancy Care

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An illustration for a blog post about a London Pregnancy Clinic event, depicting a serene winter scene with a doctor holding a snowflake wand beside a giant, glowing snow globe. Inside the globe, a peaceful foetus is curled up, akin to a budding flower on a tree branch, symbolising the clinic's nurturing approach to prenatal care.

Innovations in Pregnancy Care

An evening dedicated to LPC’s commitment towards “Innovative Pregnancy Care”

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London Pregnancy Clinic’s recent “Innovative Pregnancy Care” event was a confluence of expertise and insight, shaping the future of prenatal care. Leading professionals gathered to discuss breakthroughs in early diagnostics and patient education, emphasising LPC’s forward-thinking approach.

A December evening at Spitalfields Market was transformed into a hub of medical expertise during the London Pregnancy Clinic’s event. The focus was on pioneering approaches in prenatal care, particularly the 10 Week Scan,  Non-invasive prenatal testing (NIPT), and pre-eclampsia diagnosis.

Advancing the 10 Week Scan

The evening began with Ms. Shaz Khojasteh, LPC’s clinical lead, greeting each attendee with a warmth that matched her expertise. Her introduction was not just an opening speech but a heartfelt welcome to LPC’s family. She shared with the audience our signature 10 Week Scan, which isn’t just a routine check. It’s a comprehensive examination of the baby’s anatomy, providing vital developmental insights at a crucial early stage, thereby enriching the information gathered before conducting NIPT.

Demystifying NIPT – Dr Fred Ushakov’s Perspective

The spotlight then shifted to Dr. Fred Ushakov, whose speech was not only insightful but also visionary. He spoke passionately about his mission, in collaboration with the London School of Ultrasound and UCLH, to train the next generation of doctors and sonographers. His goal is to equip them with the skills and knowledge necessary to leverage early pregnancy scans to their full potential, enhancing patient care and pregnancy outcomes. This mission, he explained, is vital in ensuring that every pregnancy is approached with the utmost care and precision.

Dr Ushakov then addressed a common misunderstanding about NIPT. He emphasised that while NIPT is effective, it’s not all-encompassing. Patients may misinterpret it as a guarantee against all prenatal issues, not realising that conditions more severe than Down’s syndrome can occur and cannot be detected by NIPT. He further highlighted the importance of the dual approach (watch the explainer video here) that he instilled at LPC. Dr. Ushakov’s call for broader education and comprehensive scanning techniques underscored the need for a more informed approach to prenatal care.

Advocacy for Pre-eclampsia Awareness

Next, we were captivated by Dr. Daniel Stott, whose talk about pre-eclampsia was as enlightening as it was heartfelt. It was clear from his words and the energy in his voice just how dedicated he is to this topic. Dr. Stott walked us through the workings of a groundbreaking blood test for pre-eclampsia. With an approachable manner, he explained how this test isn’t just for identifying pre-eclampsia; it’s a crucial tool in carefully guiding expectant mothers through the rest of their pregnancy. 

Conclusion

As the expert talks wrapped up, the event naturally transitioned into festive networking. It was a perfect opportunity for attendees to connect, exchange experiences, and build professional ties in a holiday atmosphere. The evening emerged as a crucible of innovative ideas and shared goals for advancing prenatal care. Leaving the market, we carried with us the night’s insights and a renewed hope for the future of prenatal health. The event proved to be not just a confluence of minds but a beacon of hope for prenatal care’s future.

A special thank you to our sponsors Eurofins.

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10 Week Pregnancy Scan Explained

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The 10-Week Scan

Answering your questions about the Earliest Anomaly Scan At 10 Weeks

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This blog post discusses the benefits of the 10-week scan, how it is done, and frequently asked questions. It also highlights that the 10-week scan is the best scan to combine with Non-invasive prenatal testing (NIPT), which is a blood test that can be done at 10 weeks to screen for common chromosomal abnormalities. At the London Pregnancy Clinic, We have a unique and individual approach in that we do not ‘leave any stone unturned’ – we provide the most comprehensive assessment of the development of your baby possible at each stage of pregnancy.

Understanding the 10-week Scan:

Typically, the 10-week scan is performed using either a transabdominal or transvaginal ultrasound. A skilled sonographer will place a transducer on your abdomen or within your vagina. This transducer emits sound waves into the uterus, bouncing off the fetus to create a real-time image on the ultrasound screen. The entire procedure generally lasts between 15 to 30 minutes.

Comprehensive Screening:  

In the realm of prenatal care, knowledge is power. The 10-week pregnancy scan, often regarded as the earliest anomaly scan, holds a special place in the hearts of expecting parents. It’s an opportunity to unveil critical insights into your baby’s development, offering early detection of potential fetal anomalies and precise pregnancy dating. This pivotal examination, conducted through either a transabdominal or transvaginal ultrasound, is an indispensable tool in ensuring a smooth and informed journey towards parenthood.

Benefits of the 10-week Scan:  

The advantages of the 10-week scan are numerous and profound:

Early Detection of Fetal Abnormalities: At the 10-week mark, this scan can identify up to 10 major fetal anomalies, providing parents with vital information to make informed choices about their pregnancy.

Accurate Pregnancy Dating: Precise dating of the pregnancy aids parents in planning for their baby’s arrival and arranging future prenatal appointments with confidence.

Reassurance for Parents: Pregnancy is a time of great joy but can also bring anxiety. The 10-week scan offers peace of mind, assuring parents that their pregnancy is progressing as expected.

Optimal Pairing with NIPT: When combined with NIPT, the 10-week scan offers the most accurate information on the baby’s health. NIPT, a blood test conducted at 10 weeks, screens for common chromosomal abnormalities, such as Down syndrome, trisomy 13, and trisomy 18, complementing the 10-week scan perfectly.

IS THE 10-WEEK SCAN FOR ME?

Many pregnant women in the UK are anxious about the health of their babies in the early weeks of pregnancy. This may be due to a number of factors, including:

  • Previous miscarriage
  • IVF pregnancy
  • Unintentional alcohol consumption
  • Missed doses of folic acid
  • Use of certain medications
  • Severe morning sickness
  • Bleeding
  • Unhealthy diet
  • Sudden loss of pregnancy symptoms

If you are concerned about any of these issues or others, our 10-week scan is the perfect solution for you. It is designed to provide early reassurance for expectant parents.

The 10-week scan is also ideal for any pregnant woman who wishes to have NIPT at the earliest possible stage. Many parents choose to screen for the risk of Down syndrome in the first trimester. This is now possible with a non-invasive blood test at 10 weeks. However, the majority of fetal abnormalities are structural (physical), and some of these may be more severe than Down syndrome.

Unfortunately, NIPT will miss all structural abnormalities. That is why we take the opportunity to conduct an early screening of the baby’s structures to rule out 10 major structural abnormalities before performing NIPT.

Should I Delay My NIPT until 12-14 Weeks, Post NHS NT Scan?

Opting to delay your NIPT until after your NHS (National Health Service) Nuchal Translucency (NT) scan at 12-14 weeks is an approach that is becoming increasingly outdated. We firmly believe that the most effective method is to perform both the dating scan at 10 weeks and the NIPT at 10-11 weeks. This approach offers several advantages, particularly regarding early testing.

Admittedly, some fetal structures and organs may not be fully visualized at the 10-week mark, and certain structural anomalies may remain undiagnosed due to the fetus’s ongoing development. However, the benefits of conducting both tests as early as technically feasible outweigh these limitations.

  • IVF pregnancy
  • Unintentional alcohol consumption
  • Missed doses of folic acid
  • Use of certain medications
  • Severe morning sickness
  • Bleeding
  • Unhealthy diet
  • Sudden loss of pregnancy symptoms

If you are concerned about any of these issues or others, our 10-week scan is the perfect solution for you. It is designed to provide early reassurance for expectant parents.

The 10-week scan is also ideal for any pregnant woman who wishes to have NIPT at the earliest possible stage. Many parents choose to screen for the risk of Down syndrome in the first trimester. This is now possible with a non-invasive blood test at 10 weeks. However, the majority of fetal abnormalities are structural (physical), and some of these may be more severe than Down syndrome.

Unfortunately, NIPT will miss all structural abnormalities. That is why we take the opportunity to conduct an early screening of the baby’s structures to rule out 10 major structural abnormalities before performing NIPT.

Your Frequently Asked Questions About 10-week Scan

Do I need a full bladder for the 10-week scan? No, a full bladder is not necessary for the 10-week scan.

What sets the 10-week scan apart from the nuchal translucency scan? In comparison to the nuchal translucency scan, the 10-week scan is more comprehensive. While both can measure the fluid at the back of the baby’s neck, the 10-week scan extends its scope to assess various aspects of the baby’s development, including the heart, brain, and spine.

Is the 10-week scan safe? Yes, the 10-week scan is a safe and well-established procedure. Ultrasound technology has been a trusted method for safely imaging babies in the womb for many years.

Conclusion

If you’re considering delaying your first scan or wish to explore further options, the London Pregnancy Clinic provides innovative Early Ultrasound Screenings. These include the Early Fetal Scan, conducted between 12 and 16 weeks, which can exclude more than one hundred serious anomalies. Moreover, our Early Fetal Echocardiography is designed to identify up to 80% of detectable severe fetal heart defects. We highly recommend this scan for all babies with increased nuchal translucency (NT) measurements, fetal anomalies, or other unusual findings detected at the 11-13 week scan.

In conclusion, the 10-week pregnancy scan is an essential early step in ensuring the health and well-being of your growing family. It empowers parents with valuable insights and peace of mind, setting the stage for a smooth journey into parenthood. And remember, at the London Pregnancy Clinic, we offer a range of pioneering early ultrasound screenings to cater to your specific needs, ensuring the best possible care for your precious one.

Book NIPT + Scan from £490

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Understanding NT’s 95th Percentile

Written by London Pregnancy Clinic on . Posted in Blog, Nuchal Translucency (NT), Obstetrics, SMART TEST, Ultrasound. No Comments on Understanding NT’s 95th Percentile

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Understanding NT’s 95th Percentile:

Nuchal Translucency (NT) Thickness Measurements in the 1st Trimester and What to Do if NT is Increased?

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Nuchal Translucency (NT), developed over 30 years ago in the early 1990s, remains a pivotal screening marker for evaluating early fetal well-being. Widely used, it screens for chromosomal and genetic conditions, as well as heart defects and other structural anomalies in the developing fetus. To get an understanding of NT’s 95th percentile we will discuss the importance of NT measurements, variations in cutoff values, and what to do if your baby’s NT measurement falls above the 95th centile but below the 3.5mm threshold.

The Significance of Nuchal Translucency Measurements:

NT refers to measuring the clear fluid space at the back of the baby’s neck during an ultrasound scan. According to NHS guidelines, it is measured between the 11th and 14th weeks of gestation. Presently, it is a cornerstone of the NHS Chromosomal Syndromes Screening Program conducted through Combined Screening Testing (CST). This program relies on the enduring significance of NT to assess the risk of chromosomal syndromes in the first trimester of pregnancy. Elevated NT measurements can indicate potential chromosomal abnormalities such as trisomy 21 (Down syndrome) and genetic conditions like Noonan syndrome, as well as heart defects and other structural anomalies. However, there is a significant level of uncertainty regarding what constitutes an abnormal NT measurement.

Variations in Cutoff Values:

One of the challenges with NT measurements is determining what constitutes an abnormal measurement. There is considerable variation in the cutoff values used by different research papers and guidelines. The majority of research studies and international society guidelines use the 95th centile as the threshold for abnormal NT measurements. This means that if your baby’s NT measurement falls below the 95th centile, it is considered normal. However, the NHS guidelines use a more conservative cutoff of 3.5mm. This 3.5mm cutoff is equivalent to the 99th percentile, representing a higher threshold for what is considered abnormal by NHS.

The Importance of Gestational Age:

It’s crucial to understand that the 95th centile for NT measurements varies with gestational age. Younger fetuses at 11 weeks tend to have naturally smaller NT measurements compared to those closer to 14 weeks. Therefore, determining whether your baby’s NT measurement is normal or not depends on both the absolute measurement and the gestational age.

Understanding NT’s 95th Percentile Measurements:

We understand that expectant parents might find it challenging to locate validated data concerning the 95th centile cutoff for their baby, as such data is not readily accessible online. To provide support, we have developed an NT thickness reference table based on highly esteemed international data from the study conducted by Wright et al in 20081. Additionally, we have cross-referenced data on normal NT measurements for the 10-11-week gestational period from Grande et al.’s publication in 20142, which closely aligns with Wright’s findings. Consequently, we have assembled a table that delineates the limit of an increased NT (95 centile) for each week from the 10th to the 14th week, utilising gestational age data recommended by the British Medical Ultrasound Society (2009)3.


Gestational Weeks 10+0 10+1 10+2 10+3 10+4 10+5 10+6 11+0 11+1 11+2 11+3 11+4 11+5 11+6 12+0 12+1 12+2 12+3 12+4 12+5 12+6 13+0 13+1 13+2 13+3 13+4 13+5 13+6 14+0 14+1
NT 95th centile mm 2.3 2.3 2.4 2.4 2.4 2.4 2.3 2.2 2.2 2.2 2.2 2.2 2.2 2.2 2.3 2.3 2.4 2.4 2.5 2.6 2.6 2.7 2.7 2.7 2.8 2.8 2.8 2.8 2.8 2.8

Our chart represents the distribution of increased NT measurements (> 95th centile) in relation to the gestational age. It’s important to note that, at every stage of gestation, normal NT measurements remain below 2.8 mm. Therefore, any NT measurement equal to or greater than 2.8 mm is considered elevated.

What occurs when there is a significant elevation in NT measurements? 

If NT thickness is 3.5mm or more (>99th centile) you will be referred to the fetal medicine unit (FMU) of your NHS hospital or FMU of a large regional NHS trust, where doctors will scan your baby to exclude structural anomalies associated with increased NT and offer further tests (CVS or NIPT). They will also offer fetal echocardiography at 16-20 weeks to exclude associated CHD.

What to Do if NT Measurement is Above the 95th Centile but Below 3.5mm (99th centile)?

The NHS adopts a conservative approach and does not acknowledge the 95th centile raised NT cutoff. Consequently, additional scans and tests are not scheduled for these babies before the routine 20-week anomaly scan conducted by the NHS. However, when the NT measurement surpasses the 95th percentile, it is advisable to proceed with further testing. In such instances, considering Non-invasive Prenatal Testing (NIPT) and an Early Fetal Anomaly Scan (Early Fetal Scan) are recommended.

SMART TEST – A Comprehensive Screening Option

For babies with elevated NT (between 95-99th centile), we have introduced the SMART TEST, which stands as the most advanced early reassurance package available. It comprises two expert early anomaly scans, Early Fetal Echocardiography, and the most comprehensive state-of-the-art NIPT panel. The SMART TEST can effectively rule out the majority of severe congenital heart defects (CHDs) and other structural anomalies associated with elevated NT, and reduce the probability of your baby being affected by chromosomal, genetic, or structural abnormalities.

While the SMART TEST is expensive, it is the most comprehensive early reassurance package available in the UK. For parents unable to afford the SMART TEST, there is a more affordable option of the Early Fetal Scan and an extended Panorama Test. The Early Fetal Scan screens for CHDs, but does not include a detailed examination of the fetal heart. You can further upgrade the scan and Panorama Test NIPT package to include eECHO.

If you have received concerning news about your baby’s increased nuchal translucency, we strongly recommend discussing the SMART TEST with one of our specialists.

Conclusion

Nuchal translucency measurements play a crucial role in assessing fetal well-being during the first trimester of pregnancy. Understanding the variations in cutoff values, gestational age, and available screening options is essential for making informed decisions if your baby’s NT measurement falls above the 95th centile but below the 3.5mm NHS threshold (99th centile). The SMART TEST, with its comprehensive NIPT panel and early fetal echocardiography, offers a valuable non-invasive screening option for parents seeking more information about their baby’s health. We are committed to offering you the best possible care, and you are always welcome to have a personal consultation with us to decide on the most suitable approach based on your individual circumstances.

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Graphic of the Dual NIPT and Ultrasound approach. A baby footprint in a heart with DNA strand on either side.

NIPT and Scan: Why We Champion This Dual Approach

Written by London Pregnancy Clinic on . Posted in Blog, NIPT, NIPT, Obstetrics, Ultrasound. No Comments on NIPT and Scan: Why We Champion This Dual Approach

Graphic of a baby footprint in a heart with DNA strand on either side.

NIPT and Scan Approach: Why We Champion This Screening Method at London Pregnancy Clinic

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At the London Pregnancy Clinic, we’re dedicated to providing expectant mothers with advanced screening options and the highest level of care. We firmly recommend combining Non-Invasive Prenatal Testing (NIPT) and Ultrasound screening. Let’s explore why we endorse NIPT and Scan approach and how it benefits our patients.

Why Choose Both NIPT and scan?

Comprehensive Screening:  

Ultrasound visually assesses the baby’s anatomy, checking for physical abnormalities and measuring growth. NIPT, known by brand names like Natera’s Panorama AI or Eurofins’ PrenatalSafe, examines fetal DNA in the mother’s bloodstream, providing insights into potential chromosomal abnormalities like Down’s Syndrome, Edwards syndrome, and Patau syndrome.

Increased Accuracy and Early Detection:  

By merging Ultrasound’s structural insights with genetic data from NIPT, we significantly reduce false positives and offer more accurate results. As early as 10 weeks, when your baby is the size of a strawberry, we initiate the dual screening process. At this stage, we conduct the earliest possible structural anomaly scan, the Ten-week Anomaly Scan, to search for structural anomalies that NIPT can’t detect. We can rule out severe physical abnormalities like Acrania, Spina bifida, Absence of arms, hands, legs or feet, and Alobar holoprosencephaly. Only after confirming your baby’s structural development do we proceed with the NIPT test.

UNDERSTANDING THE TECHNOLOGY

Ultrasound Screening: 

Ultrasound employs sound waves to create images of the baby in the womb. A small probe, called a transducer, moves over the mother’s abdomen. The transducer emits high-frequency sound waves that bounce off the baby’s structures, and these echoes are converted into images on a screen.

Non-Invasive Prenatal Testing (NIPT): 

NIPT is a simple blood test taken from the expectant mother. This test detects tiny fragments of the baby’s DNA circulating in the mother’s bloodstream. By analysing these fragments, we can determine the risk of certain chromosomal conditions.

Is It Safe?

Absolutely. Both Ultrasound and NIPT are non-invasive and pose minimal to no risk to both mother and baby. However, it’s important to note that while NIPT is highly effective, it’s not a definitive diagnostic test. In cases of low negative predictive value, our doctors may recommend invasive tests like CVS or amniocentesis, which carry minimal miscarriage risk.

Our NIPT Options

As early as…

  • 10 weeks

  • 9 weeks

  • 10 weeks

Turnaround (Working Days)

  • 2-4

  • 5-7

  • 5-7

Lab Location

  • UK

  • US

  • US

No Call Results

  • <1%

  • <1%

  • <1%

Redraw Rate

  • 2%

  • 3%

  • 2%

Edward’, Patau & Down’s Syndrome

  • ✔

  • ✔

  • ✔

Di George Syndrome (22q del)

  • ✖

  • ✔

  • ✖

Triploidy

  • ✖

  • ✔

  • ✖

Turner Syndrome (45X)

  • ✖

  • ✔

  • ✔

Sex chromosomes aneuploidies

  • ✖

  • ✔

  • ✔

Twin pregnancies

  • ✖

  • Best

  • ✖

Vanishing twin syndrome

  • ✔

  • ✖

  • ✔

Fetal sex reveal (optional)

  • ✔

  • ✔

  • ✔

Scan + NIPT Price

  • £540

  • £540

  • £490

Extended NIPT + Scan Options

  • SMART Test £1690

  • Microdeletions £790

  • Rare Diseases £790

Other Early Ultrasound Screenings Offered

For those looking to delay their first scan, London Pregnancy Clinic offers pioneering Early Ultrasound Screenings, including the Early Fetal Scan conducted between 12 and 16 weeks, which can exclude more than one hundred serious anomalies. Additionally, our Early Fetal Echocardiography is designed to identify up to 80% of detectable severe fetal heart defects. It is a scan we highly recommend this scan for all babies with increased nuchal translucency (NT) measurements, fetal anomalies, or other unusual findings detected at 11-13 weeks scan.

Conclusion

At the London Pregnancy Clinic, we believe in providing the most comprehensive care possible. By endorsing the dual Ultrasound and NIPT approach, we ensure that our patients receive a detailed, accurate, and safe assessment of their baby’s health. Whether you choose the ten-week scan or another early anomaly scan, we’re here to guide and support you every step of the way.

If you have further questions or would like to schedule an NIPT and scan, please contact the London Pregnancy Clinic.

Book NIPT + Scan from £490

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Harmony NIPT Test – Yesterday’s News

Written by London Pregnancy Clinic on . Posted in Blog, NIPT, NIPT, Ultrasound. No Comments on Harmony NIPT Test – Yesterday’s News

Harmony NIPT Test – Yesterday’s News

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TDL Genetics ends Harmony NIPT provision after a decade. With outdated technology, high no-call rates, and fierce competition, Harmony loses its shine. As leading NIPT providers, we’re reviewing TDL’s new offering. But for now, our advanced menu offers the latest prenatal screening. Remember – ultrasound still crucial for detecting 2/3 of fetal abnormalities.

End of an era…

TDL Genetics (The Doctor’s Laboratory) have announced last week that it will cease providing Harmony NIPT in its UK laboratories. TDL started providing Harmony Non-Invasive Prenatal Screening back in 2013.

Harmony NIPT, which was introduced by Ariosa Diagnostics in 2013, was for a long time a gold standard in Non-Invasive Prenatal Testing. The company was later acquired by the Swiss giant Roche Holdings, which was very successful at marketing the test and in many countries, the brand name ‘Harmony Test’ has become synonymous with ‘NIPT’. In the UK, this was particularly the case as it was one of the first NIPT tests to be approved by the NHS, and it offered in many state hospitals.

NIPT was first introduced by the now-defunct Sequenom, using the brand name MaterniT21Plus™, which was approved by the FDA in 2011. Harmony Test pioneered a new method of NIPT screening using a different cfDNA sequencing method. Harmony NIPT exhibited excellent clinical performance data at the time, helping it solidify its status as the preferred NIPT test by many healthcare professionals.

The future looks good!

In the past 10 years, NIPT has become a heavily researched space, meaning that many companies have raced to create their own NIPT test using a host of advanced technologies. A couple of such competitors are Natera’s ‘Panorama Test’ and Erofins’ ‘PrenatalSAFE Test’. This increased level of competition meant that patients could now benefit from much more advanced tests for chromosomal anomalies such as Down’s syndrome and screening for rare genetic diseases.

In this time, Harmony NIPT has fallen behind in terms of its technology versus the new tests. Furthermore, the equipment used for the test has become dated and as such many of the tests performed by TDL ended up failing to produce conclusive results due to ‘quality control issues’. These so-called ‘no-call’ results, or failure of one of the testing tubes, have become so prevalent with the samples we sent to TDL that we raised our first of many complaints with TDL back in 2021. Unfortunately, these lab challenges caused significant emotional distress for our expectant parents and frustration for our clinic’s team.

NIPT at London Pregnancy Clinic

In light of these developments, at London Pregnancy Clinic, being one of the top NIPT providers in the UK and leading international experts in fetal medicine, we set on the path of finding the best alternative NIPT. We were one of the first clinics in the UK to offer the advanced NIPT test from Invitae back in 2021. Since then, we have worked with many NIPT brands and have helped hundreds of patients navigate the best NIPT choice for them.

Our clinical team has spent months interviewing the laboratory teams of all major NIPT providers as well as auditing their clinical performance. We are now the leading provider of NIPT in London, and we feel responsible for our patients’ pathway to choose the best option in the market at every given time. We have the experience of providing the Harmony NIPT and other NIPTs, and the expertise to distinguish the performance of each test in the market. We do not offer any NIPT without thoroughly reviewing its characteristics and clinical data.

As of TDL’s new NIPT option, namely the Illumina VeriSeq NIPT, we are still waiting for the lab to send us clinical performance data and set up an interview with the lab team before we are able to offer the test to our patients. For now, we have many questions for the lab given the poor quality of performance of the Harmony NIPT in terms of no-call results which was much higher than Roche’s advertised levels from our experience. In the meantime, we are confident that our current menu of NIPT tests is the latest and most advanced screening options in the market with similar turnaround times to TDL.

As always, we will keep reminding our patients that NIPT should be done alongside a complete examination of the fetal anatomy via an ultrasound scan. The NIPT marketing machine has helped raise awareness of certain chromosomal anomalies, in particular Down’s Syndrome. However, NIPT can give you a false sense of reassurance as it is useless in screening for structural anomalies (physical defects) representing more than 2/3 of known fetal abnormalities and can often be detected using ultrasound.

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Gynaecological Pelvic Scans: Importance, Procedure, and Diagnostics

Written by London Pregnancy Clinic on . Posted in Blog, Gynaecology, Ultrasound. No Comments on Gynaecological Pelvic Scans: Importance, Procedure, and Diagnostics

In the realm of gynaecology, pelvic scans play a crucial role in maintaining women’s health. These essential imaging tests help visualise the organs within the female pelvic region, aiding the diagnosis of various conditions. This comprehensive blog post provides an in-depth understanding of gynaecological pelvic scans – their importance, procedure, potential risks, the conditions they can diagnose, their history, and the organs they help visualise.

Why Are Gynaecological Pelvic Scans Important?

Gynaecological pelvic scans provide detailed images of the female pelvic organs, including the uterus, ovaries, fallopian tubes, cervix, and bladder. This non-invasive procedure aids in the diagnosis and management of numerous conditions such as fibroids, ovarian cysts, endometriosis, pelvic inflammatory disease (PID), and even cancer.

This type of imaging allows medical professionals to identify abnormalities, track their progress, and evaluate the effectiveness of treatments. It’s also a vital tool for pregnancy management, helping to monitor foetal development, placental health, and diagnose ectopic pregnancies.

How are Gynaecological Pelvic Scans Performed?

Pelvic scans in gynaecology are typically performed through ultrasound technology. Ultrasounds work by emitting high-frequency sound waves that bounce off tissues and organs, creating echoes that are converted into real-time images.

There are two main types of gynaecological pelvic scans: transabdominal and transvaginal. The transabdominal scan is performed externally, with a probe moved over the lower abdomen. For a transvaginal scan, a specially designed probe is inserted into the vagina, providing closer, more detailed images of the pelvic organs.

Are There Any Risks? Are They Painful?

Gynaecological pelvic scans are generally safe, non-invasive procedures with minimal risk. Ultrasound technology does not involve radiation, making it safer than other imaging techniques.

In terms of discomfort, while some women might experience mild discomfort during a transvaginal scan, it’s typically not painful. The procedure is usually quick, and any discomfort tends to subside immediately after the scan.

Is There a Need for Preparation?

Preparation for a gynaecological pelvic scan may vary depending on the type of ultrasound. For a transabdominal scan, patients may be asked to drink water before the procedure to fill the bladder, which allows better visualisation of the pelvic organs. For a transvaginal scan, typically, no specific preparation is required.

Conditions Diagnosed by Gynaecological Pelvic Scans

Pelvic scans can diagnose a multitude of conditions, including:

  1. Fibroids: Non-cancerous growths in the uterus, often appearing during childbearing years.
  2. Ovarian cysts: Fluid-filled sacs in the ovary, usually harmless but occasionally requiring treatment.
  3. Endometriosis: A condition where tissue similar to the lining of the uterus grows outside it, causing pain and potentially affecting fertility.
  4. Pelvic Inflammatory Disease (PID): An infection of the female reproductive organs, often due to sexually transmitted bacteria.
  5. Gynaecological cancers: Pelvic scans help detect and manage cancers of the cervix, uterus, and ovaries.

The History of Scans in Gynaecology

The use of ultrasound technology in gynaecology has evolved significantly since its first clinical application in the 1950s. The initial ‘A-mode’ ultrasounds, which provided one-dimensional information, evolved into ‘B-mode’ in the late 1950s, delivering two-dimensional images. The introduction of Doppler ultrasound in the 1970s brought colour to the images, providing information about blood flow. Today, we even have 3D and 4D ultrasounds, allowing for detailed three-dimensional imaging and real-time movement.

Organs Visualised by Gynaecological Pelvic Scans

Gynaecological pelvic scans offer comprehensive imaging of the female pelvic organs. This includes the uterus, ovaries, fallopian tubes, cervix, and bladder. Another type of scan that specifically focuses on the potency of the fallopian tubes is know as HyCoSy.

Unravelling Microdeletions: Their Causes, Risk Factors, Common Types, and Screening Methods

Written by London Pregnancy Clinic on . Posted in Blog, NIPT, NIPT, Obstetrics, Ultrasound. No Comments on Unravelling Microdeletions: Their Causes, Risk Factors, Common Types, and Screening Methods

Microdeletions are a topic of extensive genetic research. These small deletions in the DNA sequence of a chromosome can have significant implications on an individual’s health. In this comprehensive blog post, we delve into the causes, risk factors, ten most common types of microdeletions, their prevalence, and the role of Non-Invasive Prenatal Testing (NIPT) in their detection.

What are Microdeletions?

Microdeletions are tiny losses of genetic material in the DNA sequence of a chromosome. These minute changes are typically undetectable under a standard microscope, hence the term ‘micro’. However, despite being minute, these deletions can lead to significant health and developmental problems, as they may disrupt several genes essential for growth and development.

Causes and Risk Factors

The exact cause of microdeletions remains unknown, and their occurrence seems largely spontaneous. They typically occur during the formation of reproductive cells or in early foetal development, resulting from a mistake in the cell’s DNA replication process.

In terms of risk factors, there’s no established link between microdeletions and parental age, ethnicity, or lifestyle. These changes can happen in any pregnancy, but familial history can increase the chances if a parent has a balanced translocation or an inherited microdeletion.

The Ten Most Common Microdeletion Syndromes

Here’s a list of ten of the most common microdeletion syndromes, along with their estimated prevalence:

SyndromeApproximate Prevalence
1. DiGeorge Syndrome (22q11.2 deletion syndrome)1 in 3,000 – 1 in 6,000
2. Williams Syndrome (7q11.23 deletion syndrome)1 in 7,500 – 1 in 20,000
3. Prader-Willi Syndrome1 in 10,000 – 1 in 25,000
4. Angelman Syndrome1 in 10,000 – 1 in 20,000
5. Cri-du-chat Syndrome (5p- syndrome)1 in 20,000 – 1 in 50,000
6. 1p36 Deletion Syndrome1 in 5,000 – 1 in 10,000
7. Wolf-Hirschhorn Syndrome (4p- syndrome)1 in 20,000 – 1 in 50,000
8. Smith-Magenis Syndrome (17p11.2 deletion syndrome)1 in 15,000 – 1 in 25,000
9. Alagille Syndrome (20p12 deletion syndrome)1 in 30,000 – 1 in 50,000
10. Rubinstein-Taybi Syndrome1 in 100,000 – 1 in 125,000

Microdeletions, in general, occur in approximately 1 in every 1,000 births, making them a significant contributor to genetic disorders. Just to compare Down’s Syndrome, the most common chromosomal disorder affects approximately 1 in 1,000 to 1 in 1,100 live births worldwide. The frequency of Down’s Syndrome increases significantly with the mother’s age, particularly from 35 years onwards whereas microdeletions are believed to occur randomly.

Microdeletion Screening: The Role of NIPT

Screening for microdeletions has been revolutionised by advancements in genetic testing, particularly with the introduction of Non-Invasive Prenatal Testing (NIPT). This screening test, performed from the 10th week of pregnancy, analyses cell-free DNA in the maternal blood to identify common chromosomal abnormalities and microdeletions. NIPT poses no risk to the foetus and offers a safer alternative to invasive diagnostic procedures.

Though NIPT has high accuracy rates, it’s crucial to understand that a ‘positive’ result indicates an increased risk, not a definitive diagnosis. Positive NIPT results should always be confirmed through diagnostic tests such as amniocentesis or chorionic villus sampling (CVS).

There are a number of NIPT providers who offer screening for microdeletions, such as Panorama NIPT, Unity NIPT and PrenatalSAFE.

Conclusion

While the world of microdeletions might seem complex, understanding them is crucial to advancing our knowledge of genetic disorders. Early detection, made possible by advanced screening methods like NIPT, allows for better preparation and potential intervention. As research continues to evolve, we can hope for even more effective detection and management of these genetic changes, ultimately leading to improved healthcare and patient outcomes.

Remember, if you have any concerns or questions about genetic disorders or prenatal testing, it’s always advisable to consult with a healthcare professional who can provide tailored advice based on your individual circumstances.

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