Author: London Pregnancy Clinic

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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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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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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A Journey Through the First 10 Weeks of Pregnancy: Week-by-Week Guide & Ultrasound Scans

Written by London Pregnancy Clinic on 21. August 2023. Posted in Blog, Gynaecology, Ultrasound. No Comments on A Journey Through the First 10 Weeks of Pregnancy: Week-by-Week Guide & Ultrasound Scans

The first 10 weeks of pregnancy are truly transformative. As the foetus develops rapidly during this period, the significance of each week becomes ever more pronounced. If you’re an expectant mother or just curious about this marvellous journey of life, join us as we navigate through the initial 10 weeks, emphasising the value of ultrasound pregnancy scans.

Week 1 & 2: Although these weeks precede conception, they mark the beginning of the pregnancy timeline, starting from the first day of your last menstrual cycle.

Ultrasound Scan: Generally, no scans take place during these weeks. However, it’s an opportune moment to see your GP and plan your pregnancy journey. Consider Beta HCG pregnancy test.

Week 3: The magic begins! The sperm meets the egg, resulting in a zygote, which embarks on its journey through the fallopian tube.

Ultrasound Scan: It’s early days, and while an ultrasound won’t show much, an at-home test could provide the first inklings of pregnancy.

Week 4: As the zygote morphs into a blastocyst and finds its home in the uterus, the baby’s development begins in earnest.

Size: Not larger than a poppy seed.

Ultrasound Scan: Some women may opt for an early transvaginal scan which might show the start of a gestational sac.

Week 5: Layer separation occurs in the embryo, signalling the beginning of the baby’s organ development. The neural tube, the precursor to the spine and brain, begins to form.

Size: Tiny, approximately the size of a sesame seed.

Growth Factor: Grown about 2 times from the previous week.

Ultrasound Scan: A transvaginal scan can now possibly show the gestational sac. If you’re exhibiting symptoms of ectopic pregnancy, consider a scan (pain low down and on one side of your abdomen, bleeding from your vagina, pain in the tip of your shoulder, discomfort when going to the toilet, a brown watery discharge from your vagina.)

Week 6: With the formation of limb buds and a heart that’s started beating, this week is crucial.

Size: As large as a lentil.

Growth Factor: Grown about 3 times from the previous week.

Ultrasound Scan: A heartwarming moment for many, as the baby’s heartbeat may be visible! Consider our Viability Scan.

Week 7: Brain development accelerates and facial features start shaping up.

Size: About the size of a blueberry.

Growth Factor: Grown about 2 times from the previous week.

Ultrasound Scan: The scan reveals an increasingly defined shape, including a clearer heartbeat. Book our Viability scan from this point to 9 weeks.

Week 8: The foetus now has tiny fingers and toes, and the skeletal structure begins to form.

Size: Almost as big as a raspberry.

Growth Factor: Grown by 1.5 times from the previous week.

Ultrasound Scan: Budding limbs are now visible, making this scan a particularly exciting one.

Week 9: Most of the baby’s critical body parts are now in place and will keep maturing.

Size: Comparable to a cherry.

Growth Factor: Grown about 1.3 times from the previous week.

Ultrasound Scan: The baby’s shape and movements become more evident, although they can’t be felt just yet.

Week 10: Muscular and skeletal structures continue to solidify, and the tiny nails begin to emerge.

Size: Almost the size of a strawberry.

Growth Factor: Grown by 1.2 times from the previous week.

Ultrasound Scan: Now, you can witness finer details of your baby’s development, from the nails to its more discernible body shape. Book our 10 week scan, and consider NIPT.

To sum up: From a microscopic beginning to the size of a strawberry, the journey of the first 10 weeks of pregnancy is nothing short of miraculous. Ultrasound scans become a window to this evolving world, illustrating the baby’s swift progress. As the journey continues, prioritising health and staying informed during these foundational weeks is of paramount importance. The adventure has only just commenced!

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A Comprehensive Guide to AMH Blood Test: Its Significance and Connection to IVF

Written by London Pregnancy Clinic on 14. August 2023. Posted in Blog, Fertility, Gynaecology. No Comments on A Comprehensive Guide to AMH Blood Test: Its Significance and Connection to IVF

Ever wondered how a simple blood test could offer a glimpse into your fertility? In this blog post, we’ll delve into one of the most crucial hormones affecting fertility—the Anti-Mullerian Hormone (AMH). If you’ve heard of this hormone and wondered what role it plays in fertility or IVF treatments, you’re in the right place.

What is the AMH Blood Test?

An AMH (Anti-Mullerian Hormone) blood test measures the levels of AMH in a woman’s blood. Produced by the cells of the ovarian follicles, AMH serves as a reliable marker of ovarian reserve, effectively indicating a woman’s fertility potential. This test aids clinicians and fertility specialists in predicting a woman’s response to fertility treatments, particularly in vitro fertilisation (IVF).

What is the Anti-Mullerian Hormone (AMH)?

The Anti-Mullerian Hormone, first discovered by Alfred Jost in the 1940s, plays a crucial role in the sexual development of foetuses. AMH was initially known for its role in male sexual development, but subsequent research has unearthed its pivotal part in female fertility. In women, the hormone is released by the antral follicles, the small sacs in the ovaries that hold the eggs.

Why is the AMH Blood Test Important?

As AMH levels correspond to the number of remaining eggs in the ovaries, the AMH blood test offers a reliable gauge of a woman’s ovarian reserve. However, it’s essential to understand that AMH levels do not directly correlate with the quality of eggs.

Low AMH levels might indicate a diminished ovarian reserve, which could be a concern for women attempting to conceive naturally or through IVF. In contrast, higher AMH levels may suggest conditions like Polycystic Ovary Syndrome (PCOS).

When is an AMH Blood Test Required?

The AMH test may be recommended in several circumstances:

Evaluating Ovarian Reserve: AMH levels help assess the number of eggs remaining in the ovaries. The test may be suggested for women approaching their mid-30s, those with a family history of early menopause, or those who’ve previously undergone chemotherapy or pelvic surgery.
Diagnosing PCOS: Elevated AMH levels may be indicative of PCOS, a common condition affecting a woman’s ovaries and ovulation.
Determining IVF Success: Before starting IVF treatment, clinicians may order an AMH test to better predict how the ovaries will respond to the fertility drugs used to stimulate egg production.

Connection between AMH Levels and IVF

The AMH blood test holds significant value in the field of assisted reproductive technology, especially IVF. It helps clinicians devise personalised treatment strategies for their patients.

For women with low AMH levels, special considerations may be needed during the stimulation phase of IVF. These women often respond less to ovarian stimulation, leading to a smaller number of eggs retrieved, which can affect the success rate of IVF. Conversely, women with high AMH levels might be at risk for Ovarian Hyperstimulation Syndrome (OHSS), a condition that can occur when the ovaries are overly stimulated by fertility drugs.

When is the Best Time to Have an AMH Blood Test?

An AMH blood test can be performed at any time during a woman’s menstrual cycle, as AMH levels remain relatively constant throughout. However, many fertility clinics might suggest the test as a part of an initial fertility assessment or prior to beginning fertility treatments like IVF.

In Conclusion

The AMH blood test serves as a potent tool in assessing a woman’s ovarian reserve and planning personalised fertility treatments. Whether you’re attempting to conceive naturally, preparing for IVF, or just wish to know more about your fertility, an AMH test could offer invaluable insights. Always consult with a fertility specialist to discuss your options and understand what’s best for your individual circumstances.

Discover more about the Blood Tests we offer at London Pregnancy Clinic.

Gynaecological Pelvic Scans: Importance, Procedure, and Diagnostics

Written by London Pregnancy Clinic on 7. August 2023. 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:

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

Understanding The Statistics Behind NIPT (Non-Invasive Prenatal Testing)

Written by London Pregnancy Clinic on 14. July 2023. Posted in Blog, NIPT, NIPT, Obstetrics, Ultrasound. No Comments on Understanding The Statistics Behind NIPT (Non-Invasive Prenatal Testing)

Summary:

The best NIPT will be really good at detecting problems (high sensitivity) and correctly saying everything is fine (high specificity). It should hardly ever make mistakes by saying there’s a problem when there isn’t (low false positive) or missing a problem and saying everything is okay (low false negative). If the test says there’s an issue, it should be highly likely to be true (high positive predictive value). And if it says everything is fine, it should be trustworthy (high negative predictive value).

NIPT (non-invasive prenatal testing) is a type of genetic test used to screen for certain chromosomal abnormalities and genetic syndromes in a developing fetus. The test involves analyzing a sample of the mother’s blood to look for fragments of DNA from the fetus.

It’s good to know the statistical terms related to NIPT performance because they help you understand how accurate the test is and what the results mean. You might be wondering why it’s important to understand those “boring statistics” related to NIPT (non-invasive prenatal testing) performance, but trust us, it’s actually really helpful! Knowing these statistical terms can make a big difference in your pregnancy journey.

By understanding these terms, you can make informed choices about your prenatal care. If the test is really accurate, you might feel more confident in the results and decide not to have further tests. But if the test has limitations, you might want to consider additional testing to get more clarity. It’s all about making sure you have the information you need to make the best choices for you and your baby.

So, while statistics might seem boring at first, they play a vital role in your understanding of the test’s accuracy, interpretation of results, and decision-making process. Embracing these statistics can give you more confidence and peace of mind throughout your pregnancy journey.

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Please see below the most important statistical terms related to NIPT performance:

Sensitivity: This measures how good the test is at correctly identifying fetuses that have a chromosomal abnormality. A high sensitivity means that the test is good at detecting most cases of abnormality. For example, if a test has a sensitivity of 99%, it means that out of 100 fetuses with a chromosomal abnormality, the test correctly identifies 99 of them.
Specificity: This measures how good the test is at correctly identifying fetuses that do not have a chromosomal abnormality. A high specificity means that the test avoids identifying normal fetuses as abnormal. For example, if a test has a specificity of 99%, it means that out of 100 normal fetuses, the test correctly identifies 99 of them as normal.
Positive predictive value (PPV): This is the probability that a positive test result is a true positive. In other words, if the test comes back positive, the PPV measures the likelihood that the fetus actually has a chromosomal abnormality. For example, if a test has a PPV of 95%, it means that out of 100 positive test results, 95 of them are true positives.
Negative predictive value (NPV): This is the probability that a negative test result is a true negative. In other words, if the test comes back negative, the NPV measures the likelihood that the fetus does not have a chromosomal abnormality. For example, if a test has an NPV of 99%, it means that out of 100 negative test results, 99 of them are true negatives.
False positive rate (FPR): This measures how often the test gives a positive result for a normal fetus. A low FPR means the test is good at avoiding false positives. For example, if a test has an FPR of 1%, it means that out of 100 normal fetuses, the test gives a false positive result for only 1 of them.
False negative rate (FNR): This measures how often the test gives a negative result for an abnormal fetus. A low FNR means the test is good at avoiding false negatives. For example, if a test has an FNR of 1%, it means that out of 100 fetuses with a chromosomal abnormality, the test gives a false negative result for only 1 of them.

When we look at how well NIPT works, it’s important to consider a bunch of statistics together. A good test will have high sensitivity, high specificity, low false positive and false negative rates, and high PPV and NPV.

Just remember, the performance of NIPT can vary depending on the specific test and the group of people being tested. So, when you get the results, make sure to understand how good that particular test is.

Considering all these statistics helps us know how reliable the test is and what the results mean for you and your baby. It’s about making informed choices and getting the best care possible.

Learn more about the NIPT providers we use:

Harmony Test by Roche: https://harmonytest.roche.com/global/en/home.html

Panorama Test by Natera: https://www.natera.com/womens-health/panorama-nipt-prenatal-screening/

PrenatalSAFE by Eurofins: https://www.eurofins.ie/biomnis/our-services/medical-testing/non-invasive-prenatal-test-nipt-prenatalsafe/

Unity Test by BillionToOne: https://unityscreen.com/

Pregnancy Testing – Deep Dive into the Beta HCG Test

Written by London Pregnancy Clinic on 10. July 2023. Posted in Blog, Fertility, Gynaecology. No Comments on Pregnancy Testing – Deep Dive into the Beta HCG Test

Pregnancy tests aim to provide a simple yet effective method of determining if you’re pregnant. There are two primary types of pregnancy tests available: urine tests and blood tests. While urine tests are more commonly used due to their convenience and over-the-counter availability, blood tests, specifically the Beta HCG (Human Chorionic Gonadotropin) test, offer a more detailed insight into the pregnancy. Here’s an in-depth look at the Beta HCG pregnancy test, how it differs from urine tests, its accuracy, uses, and how to interpret the results.

What is a Beta HCG Pregnancy Test?

A Beta HCG test is a blood test used to detect pregnancy. Human Chorionic Gonadotropin (HCG) is a hormone produced by the placenta after implantation. The beta subunit of HCG can be detected in the blood serum of expectant mothers approximately 11 days after conception; HCG can be detected in the urine 12-14 days after conception.

There are two types of HCG tests:

Qualitative HCG test: This test simply detects the presence of HCG in the blood. It gives a “yes” or “no” answer to the question, “Are you pregnant?” Doctors often order this test to confirm pregnancy.
Quantitative HCG test (Beta HCG): This test measures the specific level of HCG in the blood. It can detect even very low levels of HCG, making it a highly accurate test.

How Does a Beta HCG Test Differ from Urine Tests?

While both urine pregnancy tests and Beta HCG tests aim to detect the presence of HCG, there are distinct differences:

Method of Testing: Urine tests can be done at home, while Beta HCG tests require a blood sample taken in a healthcare setting.
Sensitivity: Beta HCG tests are more sensitive than urine tests and can detect lower levels of HCG. This means they can confirm pregnancy earlier than urine tests — typically around 11 days after conception.
Information Provided: While urine tests only provide a positive or negative result, a Beta HCG test can provide more information about the pregnancy, like the approximate age of the fetus, or if there are potential complications.

The Accuracy of Beta HCG Pregnancy Test

Beta HCG tests are highly accurate. Because they can measure the exact amount of HCG in the blood, they can detect pregnancy earlier than urine tests, and they can also confirm or rule out potential problems.

However, while the Beta HCG test can detect if you’re pregnant, a single test can’t always accurately predict a healthy pregnancy. Levels of HCG can vary greatly among individuals, and a single measurement isn’t always indicative of a problem or complication. Doctors often will test HCG levels more than once, looking at how the levels change over time.

Uses of Beta HCG Pregnancy Test

Aside from confirming pregnancy, a Beta HCG test can be used for the following:

Monitoring Pregnancy: Doctors may use Beta HCG tests to monitor the health of a pregnancy, particularly in the early weeks. They may use serial measurements to see if HCG levels are rising as they should.
Identifying Ectopic Pregnancy: Lower than usual levels of HCG or levels that do not increase as they should may suggest an ectopic pregnancy — where the fertilized egg implants outside the uterus.
Screening for Down’s Syndrome: As part of the “double,” “triple,” or “quadruple” screen test, the Beta HCG test can help assess a baby’s risk of Down syndrome.

Interpreting Beta HCG Test Results

Interpreting Beta HCG test results isn’t always straightforward, as normal HCG levels can vary widely. Typically, in a healthy pregnancy, HCG levels double approximately every 48 hours in the first weeks following conception.

However, unusually high or low levels, or levels that don’t increase as they should, might indicate a problem, such as an ectopic pregnancy, a miscarriage, or a potential chromosomal abnormality. In such cases, your healthcare provider will likely order further tests to determine the cause of the abnormal HCG levels.

It’s important to remember that while the Beta HCG test is a crucial tool in pregnancy monitoring, it is just one aspect of a larger picture. It should be used in conjunction with other tests and examinations to ensure a comprehensive understanding of both maternal and fetal health.

In conclusion, the Beta HCG pregnancy test is a sensitive, accurate, and versatile tool in the early detection and monitoring of pregnancy. By understanding its uses and how to interpret the results, you can gain a more comprehensive view of your pregnancy journey.

Here are typical ranges for hCG levels during pregnancy:

3 weeks: 5 – 50 mIU/mL
4 weeks: 5 – 426 mIU/mL
5 weeks: 18 – 7,340 mIU/mL
6 weeks: 1,080 – 56,500 mIU/mL
7 – 8 weeks: 7,650 – 229,000 mIU/mL
9 – 12 weeks: 25,700 – 288,000 mIU/mL
13 – 16 weeks: 13,300 – 254,000 mIU/mL
17 – 24 weeks: 4,060 – 165,400 mIU/mL
25 – 40 weeks: 3,640 – 117,000 mIU/mL

Looking to book a blood test with us? Please visit our Blood Tests page. If you already had your pregnancy confirmed, we recommend to book an early pregnancy scan to check for the baby’s wellbeing.

The New Age of Prenatal Screening: An In-depth Look at Non-Invasive Prenatal Testing (NIPT)

Written by London Pregnancy Clinic on 3. July 2023. Posted in Blog, NIPT, NIPT, Obstetrics, Ultrasound. No Comments on The New Age of Prenatal Screening: An In-depth Look at Non-Invasive Prenatal Testing (NIPT)

Pregnancy, while a joyous period in life, is also a time filled with uncertainties. One significant concern for expectant parents is the health of their unborn child. Fortunately, modern-day medical advancements, such as Non-Invasive Prenatal Testing (NIPT), are here to provide some peace of mind.

This article explores NIPT’s accuracy, introduces other prenatal screening options, highlights key NIPT providers, discusses its limitations and benefits, and explains instances where NIPT may not be suitable.

Unveiling Non-Invasive Prenatal Testing (NIPT)

NIPT is a revolutionary screening test that leverages advanced technology to detect the risk of specific genetic disorders in the unborn child using a simple maternal blood draw. Common conditions screened through NIPT include Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), and Patau Syndrome (Trisomy 13). The screening can be performed as early as the 10th week of pregnancy.

Delving into NIPT’s Accuracy

When it comes to screening accuracy, NIPT outshines other prenatal screening tests. Its sensitivity and specificity for detecting Trisomy 21 exceed 99% and 99.9%, respectively. For Trisomy 18, the sensitivity and specificity approximate 97-99% and nearly 100%. For Trisomy 13, the sensitivity is between 90-96%, and the specificity again nears 100%.

However, it is paramount to understand that NIPT is a screening test, not a diagnostic tool. It can indicate the potential of a genetic disorder, but it cannot definitively diagnose the condition. A positive NIPT result suggests a higher risk, warranting further diagnostic tests like amniocentesis or chorionic villus sampling (CVS) for confirmation.

Exploring Other Prenatal Screening Options

NIPT isn’t the only prenatal screening available to expectant parents. Other alternatives include:

First-trimester combined screening: This screening comprises a maternal blood test and an ultrasound examination. Although it can detect about 85% of Down Syndrome cases, it does carry a higher false-positive rate compared to NIPT.
Quad screen: This blood test is capable of detecting around 81% of Down Syndrome cases in women under 35.
Cell-free DNA screening (cfDNA): Technically similar to NIPT, this screening method has a high level of accuracy and is typically reserved for pregnancies considered high-risk due to the associated cost.

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Introducing Key NIPT Providers

Several leading companies globally offer NIPT services:

Eurofins (PrenatalSafe Test): A globally recognized leader in the field of genetic testing, Eurofins offers comprehensive NIPT services.
Natera (Panorama Prenatal Screen): Natera stands out for its ability to perform tests as early as the 9th week of pregnancy.
Roche (Harmony Prenatal Test): Pioneers in the NIPT field, Roche’s Harmony test is widely available, being offered in more than 100 countries.
BillionToOne (Unity Prenatal Test): A more recent entrant into the NIPT field, offering a more cost effective test with promising clinical data.

Each provider has unique strengths, and choosing the right one depends on several factors, including your doctor’s recommendation, the test’s availability in your area, and insurance coverage.

Weighing the Limitations and Benefits of NIPT

Like all medical procedures, NIPT has its pros and cons.

Benefits of NIPT:

Non-invasive: NIPT requires only a maternal blood draw, posing zero risk to the fetus.
Early and accurate risk assessment: Compared to traditional screening methods, NIPT provides an earlier and more precise risk evaluation for certain genetic conditions.
Fewer invasive procedures: With its high level of accuracy, NIPT reduces the need for invasive diagnostic procedures, which carry a risk of miscarriage.

Limitations of NIPT:

Screening, not diagnosis: NIPT isn’t a diagnostic test; thus, a positive result warrants confirmation with further invasive testing.
Limited screening scope: NIPT can’t screen for all genetic and chromosomal abnormalities.
Not suitable for screening physical/structural anomalies which are often more prevalent and severe.
Possible inconclusive results: There can be instances where NIPT results are inconclusive, necessitating a retest.

NIPT Exclusions: When is NIPT Not Suitable?

Despite its many advantages, NIPT isn’t for everyone. Certain situations can limit its effectiveness, depending on the provider of the test and their algorithm. These can be, but not limited to:

Pregnancies involving more than two fetuses (triplets or more).
When the expectant mother has a history of bone marrow or organ transplant.
Pregnancies resulting from a donor egg.
Vanishing twin pregnancies.

In such situations, a detailed discussion with the healthcare provider will help in determining the best approach for prenatal screening.

In conclusion, NIPT brings a significant shift in prenatal screening with its high accuracy rate and non-invasive nature, contributing immensely to maternal and child health care. However, it’s essential for expectant parents to discuss all options with their healthcare provider and make an informed decision. The understanding that no test is perfect and that screening tests have limitations is crucial to setting appropriate expectations.

Your health and that of your baby are of the utmost importance. An open dialogue with your healthcare provider will be the best approach to address your concerns and make an informed decision about prenatal screening.