London Pregnancy Clinic West

Written by London Pregnancy Clinic on 20. January 2025. Posted in Blog, early pregnancy scan, NIPT, Obstetrics, Scans, Ultrasound, Women's health. No Comments on London Pregnancy Clinic West

Your Trusted Experts in West London

London Pregnancy Clinic Expands to Chelsea

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London Pregnancy Clinic is thrilled to announce the opening of its second location in Chelsea, West London, hosted within the prestigious Westminster Women’s Clinic. This expansion brings trusted services, including early pregnancy scans, viability scans, and advanced NIPT options such as PrenatalSafe and SMART Test, closer to West London families. Supported by a highly skilled team and advanced technology, the clinic offers personalised care in a serene environment. Book your appointment today for world-class pregnancy support.

We are delighted to announce the opening of London Pregnancy Clinic’s second location in Chelsea, West London. This expansion reflects our mission to make expert prenatal care and early pregnancy diagnostics accessible to even more expectant mothers across London.

A Partnership with Westminster Women’s Clinic

This exciting new chapter for London Pregnancy Clinic is hosted within the renowned Westminster Women’s Clinic (WWC) in Chelsea. Known for its outstanding reputation in women’s healthcare, WWC provides a state-of-the-art environment that aligns perfectly with our commitment to delivering excellence in care.

Miss Jess McMicking, founder of WWC, shared her enthusiasm about this collaboration, saying, “Very much looking forward to having London Pregnancy Clinic and their exceptional team in our surrounds, and most importantly, their expertise for our patients and the wider West London community.”

This partnership allows London Pregnancy Clinic to offer its trusted services in a setting renowned for prioritising women’s health, ensuring every patient feels supported and cared for during their journey.

Comprehensive Services Tailored to Your Pregnancy

At the Chelsea clinic, you will find the same exceptional care that has earned London Pregnancy Clinic a trusted name in pregnancy health. Early pregnancy scans are available to provide reassurance during the critical first trimester, while viability and dating scans help confirm pregnancy progression and determine your baby’s due date. Advanced Non-Invasive Prenatal Testing (NIPT), including the PrenatalSafe NIPT and SMART Test, ensures accurate screening for chromosomal conditions like Down syndrome.

With over 30 years of expertise in Obstetrics and Gynaecology, our team ensures every service is delivered using cutting-edge ultrasound technology, providing accurate results in a calm and supportive environment.

Why Choose London Pregnancy Clinic in Chelsea?

The new clinic in Chelsea makes expert prenatal care accessible to mothers in West London, including Chelsea, Fulham, Kensington, Knightsbridge, and nearby areas. Situated within Westminster Women’s Clinic, the location combines the welcoming atmosphere and advanced diagnostic tools that are central to the London Pregnancy Clinic experience. From the moment you arrive, you will feel supported in a serene environment where your well-being is the priority.

Meet New Our Expert Team

We are proud to introduce new members of the London Pregnancy Clinic team who will be based at both the City and Chelsea locations. Saskia Hicks, a knowledgeable midwife, brings a compassionate approach to guiding expectant mothers. Eden Ovadia, our dedicated medical assistant, ensures patients feel comfortable and well-cared-for during every visit. Victoria Bennet, an experienced sonographer, offers advanced fetal imaging expertise, while Lih-Wen Wang, a skilled medical assistant and phlebotomist, brings professionalism and care to every interaction.

Looking Ahead: Expanding Services in Chelsea

While our Chelsea location already offers exceptional prenatal care, including early pregnancy scans, viability scans, and advanced NIPT options such as PrenatalSafe and SMART Test, we are committed to bringing even more comprehensive services to West London in the near future.

Plans are underway to introduce midwifery services, allowing us to provide expectant mothers with continuous, personalised support throughout their pregnancy journey. From antenatal appointments to postpartum care, our future midwifery services aim to offer holistic care for mothers and babies alike.

We are also looking to expand our offerings to include fertility screenings and consultations, ensuring that women seeking support with conception have access to expert guidance and diagnostics close to home. Whether it’s follicle tracking scans or pre-conception assessments, these services will help us provide well-rounded care to individuals and families at every stage of their reproductive journey.

Our goal is to ensure that our Chelsea clinic becomes a one-stop destination for women’s health in West London, with an emphasis on expert care, state-of-the-art facilities, and a compassionate approach. As we continue to grow, we remain dedicated to listening to our patients and evolving to meet their needs.

Final Thoughts

Whether you’re seeking early pregnancy scans, prenatal testing, or reassurance during your pregnancy journey, our Chelsea clinic is here to provide expert, compassionate care. Book your appointment today to receive world-class care tailored to your needs. Visit our booking system to learn more and schedule your visit.

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Basic vs Extended NIPT

Written by London Pregnancy Clinic on 15. January 2025. Posted in Blog, early pregnancy scan, NIPT, NIPT, Obstetrics, SMART TEST, Ultrasound. No Comments on Basic vs Extended NIPT

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:

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.
Trisomy 18 (Edwards syndrome): Associated with severe developmental delays and physical abnormalities.
Trisomy 13 (Patau syndrome): A rare but severe condition linked to profound developmental issues.
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:

Cost: Extended NIPT is typically more expensive than basic NIPT, which may influence accessibility.
Time-Consuming: Because of the complexity of the tests, some of the extended NIPTs can have much longer turnaround time.
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.
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.
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.
Counselling Needs: The complexity of results from extended NIPT often requires detailed genetic counselling to help families understand the findings and their implications.
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.

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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Genetic Counselling Services Launch

Written by London Pregnancy Clinic on 12. June 2024. Posted in Blog, Genetics, NIPT, SMART TEST, Women's health. No Comments on Genetic Counselling Services Launch

Genetic Counselling Services Launch

Discover the importance of Genetic Counselling before and during pregnancy.

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London Pregnancy Clinic proudly announces the launch of our new genetic counselling services. These services focus on reproductive genetic carrier screening. Our goal is to provide vital information to individuals and couples about their genetic risks. This information helps them make informed reproductive decisions aligned with their values and beliefs.

We are excited to introduce genetic counselling services at London Pregnancy Clinic. These services aim to help prospective parents understand their genetic risks. Genetic counselling is crucial in modern prenatal care. It offers both pre-test and post-test support, guiding you through complex genetic information.

Additionally, we are delighted to welcome Ms Ailidh Watson, our new genetic counselling specialist, to our team. Ailidh brings a wealth of experience and expertise in genetic counselling, particularly in prenatal care and patients with cleft lip and/or palate.

Genetic Testing We offer

At London Pregnancy Clinic, we offer a range of advanced genetic tests. These tests provide crucial information about your reproductive health. Here are the key tests we provide:

SMART Test: Our SMART Test NIPT is the most advanced non-invasive prenatal test and scan package in the world. This signature test gives parents detailed knowledge about their baby’s health without the risks of invasive testing. We offer two genetic packages: SMART Test KNOVA, performed by the leading US lab Fulgent, and SMART Test Genoma, performed by the top European lab Eurofins. Genetic counselling before the SMART test is essential to understand its advantages and limitations, ensuring you make an informed decision about your baby’s health.

Basic NIPT: The Basic NIPT is another non-invasive prenatal test we offer. It focuses on detecting the most common chromosomal abnormalities, including Down syndrome. Like the NIPT Smart Test, it uses a simple blood draw from the mother. This test is an excellent option for those seeking essential genetic information. With its high accuracy, it ensures peace of mind during pregnancy.

Carrier Screening: Our comprehensive carrier screenings identify if you or your partner are carriers of specific genetic disorders. This test covers a wide range of conditions, including cystic fibrosis and spinal muscular atrophy. Knowing your carrier status helps in planning for a healthy pregnancy. It allows you to explore reproductive options like IVF with preimplantation genetic testing (PGT). Moreover, carrier screening informs family members about potential genetic risks.

It’s important to distinguish between Non-Invasive Prenatal Testing (NIPT) and carrier screening:

NIPT: Performed during pregnancy, typically between 10-20 weeks. It screens the fetus’s DNA for chromosomal abnormalities like Down syndrome.
Carrier Screening: Tests the parents’ DNA for specific gene mutations that could be passed to their child. It can be done before or during pregnancy.

Benefits of Genetic Testing

Genetic testing offers several advantages, not just for you but for your entire family. Here are some key benefits:

Understanding Health Risks: Genetic testing identifies if you or your partner carry genes for specific genetic conditions. This understanding helps assess the risk of passing these conditions to your children.

Informed Decisions: Knowing your genetic risks allows you to make informed choices about pregnancy and family planning. You can consider options like IVF with preimplantation genetic testing (PGT-M), early interventions, or other preventive measures.

Personalised Care: With detailed genetic information, doctors can provide more personalised care. They can recommend specific tests, treatments, or lifestyle changes to help manage or reduce health risks.

Family Health Insights: Genetic testing reveals crucial health information that may affect other family members. If a genetic condition is identified, relatives can also get tested and take steps to manage their health.

Early Intervention: Detecting genetic conditions early leads to timely interventions and better management. This approach improves the quality of life for affected individuals.

Peace of Mind: For many, genetic testing provides peace of mind. Knowing your genetic information can alleviate uncertainties about potential health risks.

Preventive Measures: Genetic testing enables preventive measures, potentially reducing the risk of having a child with a genetic syndrome.

Overall, genetic testing empowers you with knowledge about your health and your family’s health. It helps you make well-informed decisions and take proactive steps. This ensures the best possible outcomes for you and your loved ones.

Impact on Family Planning?

Our carrier screening tests identify carriers of specific genetic disorders. Even without symptoms, you might still be a carrier. This knowledge is crucial for informed family planning. Knowing your carrier status can significantly influence family planning decisions. Couples who are both carriers face a 25% risk of having an affected child. This information empowers them to explore various reproductive options, such as:

Using donor gametes to conceive.
Pursuing in vitro fertilisation (IVF) with preimplantation genetic testing (PGT).
Accepting the risk and preparing for a potentially affected child.
Considering adoption or remaining childless.

Carrier results can also influence the timing of pregnancy, prenatal testing decisions, early intervention for certain conditions, and emotional preparedness. Carrier screening identifies carriers for many genetic conditions, including:

Cystic Fibrosis
Spinal Muscular Atrophy (SMA)
Sickle Cell Disease
Tay-Sachs Disease
Fragile X Syndrome
Duchenne Muscular Dystrophy

Other conditions include Thalassemias (alpha and beta), Familial Dysautonomia, Fanconi Anemia, Gaucher Disease, and Niemann-Pick Disease.

Importance of Genetic counselling

Genetic counselling is vital in the carrier screening process. Our certified clinical genetic counsellors are dedicated to supporting you through every step. Here’s how:

Educating the Public and Healthcare Professionals: We provide standardised education about genetic carrier screening. This knowledge empowers you and your healthcare providers with essential information.

Pre-Test Counselling: Before testing, we outline the screening process and potential outcomes. This preparation ensures you are fully informed and ready.

Post-Test Counselling: After testing, we interpret your results and discuss your options. This support helps you understand your situation and make informed decisions about your reproductive health.

Collaborating with Healthcare Providers: Our counsellors work with other healthcare providers to ensure comprehensive care in complex cases. This collaboration enhances your overall care experience.

In summary, London Pregnancy Clinic’s genetic testing and genetic counselling services offer comprehensive support and essential information. These services empower you to make informed decisions and take proactive steps for your family’s health. For more information or to schedule a test, please visit our website or contact us directly. Our team is here to support you in planning a healthy future for your family.

Ethical and Emotional Support:

Genetic counselling provides ethical guidance and emotional support. Our genetic counsellors help individuals and families navigate complex genetic information. Here’s how we assist:

Risk Assessment: We evaluate your risk based on family history, ethnic background, and genetic test results. This assessment is crucial for understanding potential health risks.
Informed Decision-Making: Knowing your genetic risks allows you to make informed choices about genetic testing and reproductive options. This empowers you to take control of your health and family planning.
Explaining Test Results: We interpret your genetic test results and explain their implications. This helps you understand what the results mean for you and your family.
Emotional Support: We offer emotional support and coping strategies. Understanding genetic risks can be challenging, and our counsellors are here to help you navigate these emotions.
Personalised Healthcare Recommendations: Based on your genetic profile, we provide personalised healthcare recommendations. This ensures you receive care tailored to your specific needs.

We are excited to welcome Ms Ailidh Watson to our team as our genetic counselling specialist. Ailidh is a registered private genetic counsellor with a broad range of experience. She has specialist interests in prenatal care and patients with cleft lip and/or palate. Her qualifications include a BSc (Hons) in Genetics from the University of Glasgow and an MSc in Genomic Counselling from the University of Manchester, where she graduated with distinction.

Ailidh’s credentials also include the Skilled Helper Course and registrations with AHCS and HCPC. Her services at LPC include genetic counselling, carrier screening, NIPT counselling, and prenatal screening, including NIPT. Ailidh will be your go-to person for all things genetic counselling.

Final Thoughts

London Pregnancy Clinic’s genetic counselling services represent a comprehensive approach to reproductive health. These services combine advanced genetic testing with expert counselling tailored to individual needs. They empower couples with the knowledge to make informed reproductive choices aligned with their values and circumstances.

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Graphic of 10 week Scan. An illustration of a mother thinking about the normal development of her baby.

10 Week Pregnancy Scan Explained

Written by London Pregnancy Clinic on 8. November 2023. Posted in Blog, NIPT, Obstetrics, Ultrasound. No Comments on 10 Week Pregnancy Scan Explained

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.

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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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 15. October 2023. Posted in Blog, NIPT, NIPT, Obstetrics, Ultrasound. No Comments on NIPT and Scan: Why We Champion This Dual Approach

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

PrenatalSafe

Panorama AI

Unity NIPT

As early as…

10 weeks
9 weeks
10 weeks

Turnaround (Working Days)

Lab Location

No Call Results

Redraw Rate

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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Early Pregnancy transvaginal scan by London Pregnancy Specialists.

Choosing the Best NIPT Clinic in London

Written by London Pregnancy Clinic on 4. October 2023. Posted in Blog, NIPT, NIPT, Obstetrics, Ultrasound. No Comments on Choosing the Best NIPT Clinic in London

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

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Congratulations on your pregnancy! As you embark on this exciting journey, it’s essential to prioritise your baby’s health and well-being. One crucial aspect of prenatal care is Non-Invasive Prenatal Testing (NIPT), a revolutionary genetic screening tool that provides valuable information about your baby’s health. However, selecting the right clinic for this test, given the complexity of the test and the critical information it yields, requires careful consideration of various factors to ensure accurate results and proper management. In this article, we will explore the essential factors to consider when choosing the best NIPT clinics in the UK.

Expertise of Medical Professionals

One of the primary factors to consider is the expertise of the medical professionals running the clinic. Ideally, you should seek a clinic that is led by fetal medicine specialists. These specialists possess advanced knowledge in, antenatal care, fetal development, and genetics, ensuring you receive the most accurate and reliable information about your baby’s health.

NIPT Technology

The type of NIPT technology utilised by the clinic is a crucial factor in determining the accuracy of the results. Advanced technologies like Whole Genome Sequencing (WGS) or Single Nucleotide Polymorphism (SNP) are preferred over outdated microarrays, as they offer greater sensitivity and precision.

Range of NIPT Options

An excellent NIPT clinic should offer a variety of test options to cater to individual needs. However, it is essential that they can explain the differences between the tests comprehensively. Furthermore, clinics that use multiple providers may offer a broader range of NIPT options, ensuring you receive the most suitable test for your specific circumstances.

NIPT Failure Rate

Inquire about the clinic’s NIPT failure rate or “no call” results. A high failure rate can lead to inconclusive outcomes, necessitating further testing and causing unnecessary stress. Check if the clinic has its own audits regarding performance of different brands of NIPT they use. Look for a clinic that uses a NIPT brands with low failure rate to increase the chances of obtaining reliable results.

Performance of Extended Options

If the clinic offers extended NIPT options, ensure they are aware of the test’s performance and validation studies including false negative and false positive rates. Additionally, verify that the clinic has robust referral pathways for genetic counselling and diagnostic testing to assist you in making informed decisions if further testing is required.

Before undergoing the extended NIPT, if you have specific concerns about rare genetic conditions like achondroplasia, DiGeorge syndrome, Noonan syndrome, or cystic fibrosis, it is crucial to contact the clinic beforehand. Ensure that the clinic offers the type of advanced NIPT that can detect these specific rare diseases. Not all advanced NIPT tests are created equal, and by reaching out to the clinic in advance, you can confirm whether they provide the extended NIPT options necessary to address your specific concerns. This proactive approach will help you make an informed decision and choose the most suitable clinic for your needs.

Pre NIPT Counselling and Scans

A reputable clinic should provide pre NIPT counselling that covers essential aspects such as the explanation of NIPT tests, failure rates, turnaround times, and more. Additionally, they should perform a comprehensive scan before the NIPT blood draw to rule out severe fetal anomalies. This step is crucial as it prevents unnecessary NIPT testing on a baby with lethal or severe structural (physical) anomalies. Remember that structural anomalies are more common than Down syndrome.

Ultrasound Technology

Inquire about the ultrasound technology used by the clinic for the scan before NIPT blood draw. Advanced high-resolution ultrasound scanners provide clearer images and a more accurate assessment of fetal health. Avoid clinics that use outdated or low-resolution scanners, as this may affect the quality and accuracy of the scans especially at early stages of gestation (10-11 weeks). Incorrect scan information can significantly affect NIPT performance.

NIPT + Scan Price

While price is an important consideration, it should not be the sole determining factor. Lower-priced clinics may compromise on overall performance, can use not clinically validated NIPT brands or uncertified NIPT laboratories and fail in providing care in the cases of abnormal or inconclusive results. This may lead to further unexpected testing expenses. On the other hand, some high prices may be due to the clinic’s premium location, which doesn’t necessarily reflect the quality of services provided.

Conclusion

Selecting the best NIPT clinic is a critical decision that directly impacts your baby’s health and your peace of mind during pregnancy. Look for a clinic led by fetal medicine specialists, equipped with state-of-the-art NIPT and ultrasound technology, and with a comprehensive range of test options. The clinic should prioritise pre NIPT counselling and baby’s ultrasound scanning to ensure you receive the most accurate and relevant information. Remember, the best clinic will prioritise the well-being of you and your baby, providing the support and care you need during this beautiful journey.

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Private NIPT Cost in London UK

Written by London Pregnancy Clinic on 13. September 2023. Posted in Blog, NIPT, NIPT, Obstetrics, Ultrasound. No Comments on Private NIPT Cost in London UK

Non-Invasive Prenatal Testing (NIPT) Cost in London

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NIPT, or Non-Invasive Prenatal Testing, is currently the safest and most accurate way to screen for chromosomal anomalies before your baby is born. However, NIPT cannot detect any physical or structural anomalies, which represent almost 2/3 of the fetal anomalies. That’s why we recommend doing NIPT with an early anomaly ultrasound scan from £490.

Short history of NIPT

NIPT was first introduced in 2011 by Sequenom, using next-generation sequencing to analyze cell-free fetal DNA in maternal blood. This allowed screening for trisomies 21, 18 and 13.
In 2012, Ariosa Diagnostics (now Roche) launched the Harmony test, also using cfDNA analysis. Natera’s Panorama test entered the market shortly after.
These first-generation tests analyzed chromosomes 21, 18 and 13. Around 2013, companies began expanding NIPT to screen for sex chromosome aneuploidies.
By 2016, Illumina had acquired Verinata, making them a major NIPT provider. Labs like Natera, Illumina, Roche and BGI continued enhancing their tests.
In 2019, Illumnia launched the VeriSeq NIPT Solution v2 which added screening for microdeletions. Other labs followed with expanded NIPT panels.
Currently, the major players providing NIPT globally are BillionToOne Unity, EuroFins PrenatalSAFE, Illumina, Natera, Roche/Ariosa, BGI, Yourgene Health, and PerkinElmer’s Labcorp. Some operate as test manufacturers while others partner with labs.
NIPT technology and capabilities continue to advance rapidly. It is now recommended by many professional societies as a first-tier prenatal screening test due to higher accuracy than traditional serum screening. Adoption continues rising globally.

The importance of Ultrasound screening

There are a few key reasons why it is important to have an ultrasound scan in conjunction with NIPT:

NIPT is a screening test, not a diagnostic test. Ultrasound helps confirm or identify potential fetal anomalies through visual imaging rather than just a probability result.
Ultrasound provides important information that NIPT does not, including confirming gestational age, fetal presentation, number of fetuses, placental location, anatomical structures, and growth measurements.
Soft markers for aneuploidy like increased nuchal translucency, absent nasal bone, echogenic bowel or cardiac anomalies may be detected on ultrasound but not by NIPT.
If ultrasound dates do not match LMP dating, it can affect the accuracy of NIPT results. Ultrasound provides more precise gestational age.
Ultrasound helps determine if discordant NIPT results may be due to placental, vanishing twin or maternal malignancy issues.
Some structural defects like neural tube defects are not screened for by standard NIPT panels but may be visible on ultrasound.
Ultrasound provides live visualisation of the fetus, which can help make NIPT results feel more real for parents.

While NIPT is an invaluable screening tool, ultrasound adds important clinical information and imaging. Following up abnormal NIPT results with ultrasound helps determine next steps for diagnosis and pregnancy management.

What is currently offered by the NHS?

The NHS Fetal Anomaly Screening Programme screens for the following anomalies:

Down’s syndrome (trisomy 21)
Edwards’ syndrome (trisomy 18)
Patau’s syndrome (trisomy 13)
Anencephaly
Congenital heart defects
Cleft lip
Exomphalos
Gastroschisis
Spina bifida
Serious musculoskeletal problems (such as limb reduction defects)

The screening is offered to all pregnant women between 10-14 weeks of pregnancy. It involves a blood test to measure two pregnancy hormones in the mother’s blood along with an ultrasound scan (nuchal translucency scan).

The screening provides a risk assessment as to the likelihood of the baby having one of the conditions, but it is not a diagnostic test. Those with a high-risk result are offered further tests such as amniocentesis or chorionic villus sampling to confirm a diagnosis.

The NHS screening programme aims to identify potential problems early in pregnancy so parents can make informed choices and access appropriate antenatal care and treatment if needed.

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Harmony NIPT Test – Yesterday’s News

Written by London Pregnancy Clinic on 3. September 2023. 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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Unravelling Microdeletions: Their Causes, Risk Factors, Common Types, and Screening Methods

Written by London Pregnancy Clinic on 31. July 2023. 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:

Syndrome	Approximate 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 Syndrome	1 in 10,000 – 1 in 25,000
4. Angelman Syndrome	1 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 Syndrome	1 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 Syndrome	1 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.

DiGeorge Syndrome: Causes, Risk Factors, Screening and Prevalence

Written by London Pregnancy Clinic on 24. July 2023. Posted in Blog, NIPT, NIPT, Obstetrics, Ultrasound. No Comments on DiGeorge Syndrome: Causes, Risk Factors, Screening and Prevalence

DiGeorge Syndrome, also commonly known as 22q11.2 deletion syndrome (or simply 22q del,) is a complex and multifaceted disorder that many people may not be aware of. This blog post aims to shed light on the causes and risk factors of DiGeorge Syndrome, discuss screening options such as Non-Invasive Prenatal Testing (NIPT), and compare its prevalence with conditions such as Down’s Syndrome.

Understanding DiGeorge Syndrome (22Q DEL)

DiGeorge Syndrome is a chromosomal disorder caused by the deletion of a small piece of chromosome 22, specifically on the q11.2 region. The deletion happens spontaneously during the formation of reproductive cells or in early fetal development. The primary cause of 22q del is unknown, and it typically isn’t inherited from the parents.

The syndrome is characterised by a wide range of potential symptoms, including heart defects, certain facial features, and learning difficulties.problems with immune system and other abnormalities. Unfortunately, 22q del syndrome is also associated with learning difficulties and psychiatric or behavioural problems like autism and schizophrenia. Due to its complex nature, different individuals affected may present a different set of symptoms, making it a highly variable condition.

Risk Factors

Although the exact cause of the chromosomal deletion leading to DiGeorge Syndrome is unknown, it’s not typically associated with the age of the parent, unlike some other genetic disorders. The occurrence appears to be mostly random, which means that all pregnancies, irrespective of familial history, have a minimal but real risk.

Screening for DiGeorge Syndrome: The Role of NIPT

Non-Invasive Prenatal Testing (NIPT) has emerged as an invaluable tool for the early detection of several genetic disorders, including DiGeorge Syndrome. NIPT analyses cell-free DNA in the maternal blood to detect common chromosomal abnormalities. This test can be performed from the 10th week of pregnancy and poses no risk to the fetus.

While NIPT is highly accurate for detecting common trisomies like Down’s Syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), and Patau’s syndrome (trisomy 13), it’s also valuable for identifying deletions like those causing DiGeorge Syndrome. It’s essential to remember, however, that a positive NIPT result for DiGeorge syndrome should be confirmed with diagnostic tests like amniocentesis or chorionic villus sampling (CVS) for a definitive diagnosis.

Not all NIPT provider offer reliable screening for DiGeorge Syndrome. Recently, the Panorama AI NIPT demonstrated impressive clinical performance for screening Di George Syndrome, you can read more about the study here. In well-designed prospective study Panorama Test was able to detect more than 80% of the fetuses affected by 22q del, showing an outstanding 50% positive predicted value.

Prevalence of DiGeorge Syndrome vs Down’s Syndrome

DiGeorge Syndrome is considered one of the most common genetic syndromes, second only to Down’s Syndrome. In the general population, it’s estimated to affect between 1 in 2,000 to 1 in 4,000 live births. Younger women have the same chance to deliver baby with 22q del as older ones.

In contrast, Down’s Syndrome, the most common chromosomal disorder, has a higher prevalence rate, affecting 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.

Conclusion

Understanding and awareness of genetic disorders like DiGeorge Syndrome are crucial, not just for healthcare professionals, but for the general public too. While DiGeorge Syndrome is less common than Down’s Syndrome, it still represents a significant proportion of genetic disorders. By employing advanced screening methods such as NIPT, early detection and management of these conditions can be made possible.

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