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

Written by London Pregnancy Clinic on . 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:

  1. 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.
  2. Quad screen: This blood test is capable of detecting around 81% of Down Syndrome cases in women under 35.
  3. 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.

Introducing Key NIPT Providers

Several leading companies globally offer NIPT services:

  1. Eurofins (PrenatalSafe Test): A globally recognized leader in the field of genetic testing, Eurofins offers comprehensive NIPT services.
  2. Natera (Panorama Prenatal Screen): Natera stands out for its ability to perform tests as early as the 9th week of pregnancy.
  3. Roche (Harmony Prenatal Test): Pioneers in the NIPT field, Roche’s Harmony test is widely available, being offered in more than 100 countries.
  4. 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.

Your Fertility Scan Guide 

Written by London Pregnancy Clinic on . Posted in Blog, Fertility, Gynaecology, Ultrasound. No Comments on Your Fertility Scan Guide 

Endometrial Lining Scan 

Endometrial Lining Scan, also known as the ‘Baseline Scan’, is designed to assess the thickness of the womb as well as its general outline and structure. 

These scans are popular amongst patients going through IVF treatment and are designed to guide your referring clinician, helping them to understand and plan your treatment accordingly. This is done by estimating the best time and chances for conception in addition to preparation prior to embryo transfer. Book here.

London Pregnancy Clinic offer three price packages for Endometrial Lining Scans: 

  • Endometrial Lining Scan/Baseline Scan – £120 
  • One lining ultrasound scan 
  • Rose Package – £220 
  • Two lining ultrasound scans 
  • Lily Package – £320 
  • Three lining ultrasound scans 

Follicular Tracking Scan 

Follicular Tracking Scan, also known as Antral Follicle Count, assesses the total number and size of the follicles in each ovary. 

These scans are popular amongst those going through IVF treatment. Follicle Tracking Scan helps your referring clinician to make important decisions in your fertility treatment and as such it is imperative to get accurate readings. Book now.

Similar to Endometrial Lining Scan, we offer three price packages for Follicular Tracking Scans: 

  • Follicle Tracking Scan/Antral Follicle Count: £150 
  • One follicle tracking ultrasound scan 
  • Rose Package – £270 
  • Two follicle tracking ultrasound scans 
  • Lily Package – £390 
  • Three follicle tracking ultrasound scans 

HyCoSy Scan 

This is an advanced ultrasound scan to examine the fallopian tubes, uterus and ovaries providing an important insight into your fertility. 

HyCosy scans are performed by our expert Consultant Gynaecologist, Mr Prashant Purohit, specialises in reproductive medicine and fertility assessment. HyCoSy scans are recommended for patients who have experienced difficulties in getting pregnant. Book now.

  • Cost: £500 including a pre-procedure consultation 

Blood Test Services 

London Pregnancy Clinic offers a variety of different blood tests with a short turnaround time. The results will be sent to you and your referring consultant through our secure online system. 

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Meet The Team

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As we are a small, close-knit team you will become accustomed to seeing a few familiar faces whenever you enter the clinic, so here’s a bit more about us.

Dr Ushakov is our Founder and Medical Director. A leading expert in the field, with over 30 years’ experience in Fetal Medicine, working in three different countries. Dr Ushakov is most likely the reason you have booked your appointment with us and his patient, individual approach to each and every scan will provide you with calming reassurance.

Alcinda is our clinical assistant and her kind, calm nature will put you instantly at ease throughout your appointment. Alcinda is also trained in phlebotomy so you may also experience her excellent bedside manner during your NIPT blood test.

If you have an email or telephone enquiry you will most likely speak to our medical secretary, Ella. She is on hand to answer any questions you may have throughout your time with us. You may recognise her from the warm welcome you receive when you first enter the clinic.

How big is the Embryo at 8 weeks?

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Most pregnancy apps will make you aware of the size comparison of your baby against a fruit/ vegetable/ animal or even baked goods, but rarely do you see images showing just how your baby would fit into the palm of your hand!

Take a look at this image which shows you the real size of your baby at 8 weeks!

At 8 weeks Dr Ushakov will be able to check for the heartbeat, date the pregnancy, check for single/multiple pregnancies. He will also check the structures of the pregnancy at this stage including the gestational sac, yolk sac and placenta.

During the Viability scan you will find out the estimated due date (Which will give you plenty of time to pack up that hospital bag and plan out your babymoon)!

If you are interested in having the viability scan at City Ultrasound, you can book our scans or give us a call on 02036872939 for more information

Clinic Video Tour

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City Ultrasound is a pregnancy care centre based in the City of London in close proximity to Spitalfields Market. We specialise in the early diagnosis of congenital anomalies, and have more than 30 years of expertise in fetal medicine. Our clinic is equiped with the latest ultrasound equipment with the latest 3D/4D technology to produce outstanding quality of imaging for diagnostic purposes.

Our clinic has been recently refurbished to provide a relaxing environment for our patients who come in for early pregnancy reassurance. Watch this short Video Tour introducing our clinic and our staff!

https://www.youtube.com/watch?v=is1rESozCZc

Spina Bifida

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Some media coverage of UCLH Spina Bifida unit on the BBC. Dr Fred Ushakov is a proud member of this clinic screening dozens of Spina Bifida cases a year from all over the UK. At City Ultrasound we screen for Spina Bifida from 10 weeks of pregnancy in our first trimester anomaly scan, also known as the Early Fetal Scan.

What is Spina Bifida?

Spina Bifida is a neural tube defect affecting the development of the spine and spinal cord of the baby. The neural tube is an embryonic structure that ends up forming the baby’s brain and spinal cord. There are three types of Spina Bifida; occulta, meningocele and myelomeningocele. Occulta (Latin for ‘hidden’) is the mildest form of Spina Bifida with symptoms including a hairy patch on the back or a dark spot on the back.

Myelomeningocele is the most severe anomaly and is commonly referred to as ‘open Spina Bifida’. The spinal canal remains open along several vertebrae in the back and exposing the baby’s tissues and nerves and forming a sac. Open Spina Bifida is associated with many other medical issues and is potentially life threatening for the baby. Some of the common complications associated with this type are: walking problems, orthopaedic issues, bowel issues, latex allergy, dermatological problems and accumulation of fluid in the brain.

According to the FMF, at 12 weeks the prevalence of Open Spina Bifida is 1 in 1,000 fetuses. In reality we believe that the condition is less prevalent in the UK but is still one of the most common neural tube defects. At City Ultrasound we screen for Spina Bifida from 10 weeks in our Early Fetal Scan.

Some of the risk factors for Spina Bifida include; folate deficiency (read our blog post on the Folic Acid), genetic history if neural tube defects, diabetes, certain medications and obesity.

Fred Ushakov – Teaching

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One of Dr Fred Ushakov’s passions is teaching and training other professionals in the field of Fetal Medicine and the applications of ultrasound screening. Prior to the pandemic Fred lectured in countries such as the US, Australia, Italy, Sweden, Peru, Egypt, Romania, Ukraine and China, where the picture below was taken. Fred has also collaborated with GE Healthcare in live masterclass demonstrations in their Brussels HQ.

During the pandemic, Dr Ushakov was one of the pioneers to start broadcasting his lectures online. His lectures are mainly focused around his field of interest of early anomaly detection and the Early Fetal Scan. In the past year alone, over a thousand ultrasound professionals have attended his courses online.

Happy Easter From City Ultrasound!

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City Ultrasound London is wishing you a very Happy Easter!

This is a tiny present from us, enjoy this 4D scan image of a fetus at 12w + 3d when it’s 5.4cm long in its little egg- the amniotic sac.

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8 Week Scan in 3D

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3D at 8 weeks?! ???

We always like to test the capabilities of the latest ultrasound tech. This is a real 3D image of an embryo at just 8 weeks when it is typically just 3/4 of an inch long (just short of 2cm – the size of a raspberry.)

By 8 weeks the embryo will already have tiny hands and feet as well as distinguishable fingers and toes. The respiratory system is also starting to develop at this stage and the heart is beating at a rapid rate of 150-170 beats per minute to help facilitate the exponential growth of the embryo early in the pregnancy.

The baby’s structures are too small at 8 weeks to be able to properly examine them using ultrasound. NIPT (Harmony Test) is also not reliable at this stage due to the small fetal fraction in the mother’s blood – you will have to wait until at least 10 weeks.

That’s why at 6-9 weeks we recommend coming in for a Viability Scan:

  •  Confirm the baby’s heartbeat
  •  Date the pregnancy
  •  Check for single/multiple pregnancy
  •  Check main structures of the gestational sac, which include the baby (the embryo), the yolk sac, and the future placenta

Cerebellum

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Incredible shot of the Cerebellum at just 11 weeks in our recent instagram post!

This fetus is just 4cm long, but our advanced transvaginal probes are able to get this high resolution image of the cerebellum. Latin for ‘little brain’, the cerebellum is an important structure at the back of the human skull. The cerebellum is responsible for coordinating our voluntary movements, as well as motor skills, balance, coordination and posture.

It consists of two major structures namely the Cerebellar cortex and Cerebellar nuclei. Despite only being 10% of the human brain, the ‘little brain’ contains up to 80% of the brain’s neurons, mainly in the cortex. Neurons are important cells in the human body that are the building blocks of the nervous system.

You can see why it is important to check the development of the brain. Dr Fred Ushakov is a specialist in neurosonography and conducts a comprehensive examination of the brain with every scan from 11 weeks until the 3rd trimester.