Slide 1

Non-Invasive Prenatal Testing (NIPT)

Testing is 10 weeks to term

10 weeks gestation to term

Non-Invasive Prenatal Testing (NIPT)

Why have NIPT?

Currently screening for Trisomy 21, Down’s syndrome, is offered by the NHS as a combined test performed from 10 weeks gestation to term. The pregnancy is dated, the fluid at the back of the neck (Nuchal Translucency) is then measured and a blood test from the mother is taken to assess the hormone levels in the blood. This information along with the scan findings is combined and generates a chance of 1:>150 for a low probability result and 1:<150 for an increased probability result. The detection rate is around 70-80% sensitive dependent on the literature you read.

Non-invasive prenatal testing (NIPT) has a 99% probability detection rate – A blood sample from the mother is analysed for fetal DNA which circulates within her blood.

The cell-free DNA can be tested in the most accurate screening process to detect the probability of the baby having Trisomy 21 (Down’s syndrome); trisomy’s 18 (Edward’s syndrome) and 13 (Patau’s syndrome) are also tested. It must be remembered that NIPT is NOT diagnostic giving you a yes or no answer; it is still screening that works in levels of probability and chance.

The effectiveness of this screening test is that it will massively reduce the need to have invasive testing such as an amniocentesis of CVS (Chorionic Villus Sampling) to less than 1% which carries a risk of miscarriage.

A low probability result does not mean there is absolutely no chance and a high probability result will require invasive testing such as an amniocentesis to provide a definitive, diagnostic answer.

The NHS is currently offers this type of testing only for those women with an increased chance/probability from their combined screening.

If you have had a scan after 10 weeks gestation we can offer you a service where we only need to take the bloods. This option can only be performed if you have a scan report showing that you have a viable pregnancy over 10 week’s gestation.

This test does not require any referral from your healthcare providers; it is a safe and non-invasive screening test. All singleton and twin pregnancies whether naturally conceived or by IVF including those with use of donor eggs can be assessed.

The test can be performed from 10 weeks of pregnancy until 40 weeks.

The Scanning Room strongly advise that the mother has all the routine scans offered by the NHS during her pregnancy. The NIPT does not check or provide information on growth problems or physical defects for e.g. Spina bifida, heart or brain abnormalities.

This test does not assess probability for mosaicism, partial trisomy’s or translocations. The findings of the test may not give you a result and may suggest that further testing is more appropriate.

What we do…

A scan needs to be performed to confirm viability and that the pregnancy is over 10 weeks gestation before the paperwork is completed and bloods are taken.

The dating scan is performed over the tummy as transabdominal scan, having a fairly full bladder will help to see the pregnancy more clearly. From 10-14 weeks we measure the baby crown to rump (CRL) to get an estimated due date and over 14 weeks we measure the head, tummy and thigh. Over 14 weeks the due date is based on the head circumference measurement.

The scan can also see if you are having just the one baby or a couple of surprises! We also check your little one to see how well it is developing by checking the skull/brain, arms and legs, stomach and cord insertion.

We also check the uterus and ovaries to ensure everything appears normal.

Throughout the scan we will be talking about what your baby is doing, how it is developing and what it can do – such a lovely insight into your baby’s world.

After the scan we complete the paperwork and you read through and sign the consent form. We then take 1 tube of blood and send this to the lab.

If you are having the bloods only option we will complete the paperwork and take the bloods as above. There is plenty of time to ask any questions.

10 weeks gestation to term

After the scan...

The blood sample is sent to The Doctors Lab in London who have the license to process the samples. The results take up to 10 days to come back to us. Once we receive the results via email, we call you to discuss the findings and then email you the copy of the results. Once you receive the email/results you can always contact us if there is anything you need to discuss.

The results will come back as 0.01% probability which is your low chance result or 99.9% which is your increased probability result. If low probability the report can be put in your notes and no further follow up required. If the results show an increased probability we will with your consent refer you to your screening midwife at your local hospital. The screening midwives will talk you through further options from this point.

In approximately 2% of blood samples taken there is not enough fetal DNA to provide a result. In these cases another sample of blood is requested by the lab which will delay the results being released. If an additional sample is requested this is processed at no extra charge. At times the lab do request further information or clarification about details, in this case we will contact you with the details requested.

For further information follow this link to The Doctor’s Lab website, https://www.tdlpathology.com/specialties/genetics/non-invasive-prenatal-testing-nipt/

I couldn't recommend Lindsay more highly. I had a scan with her at 8+2 and 10+6. She is so warm, kind and caring but also extremely competent, thorough and knowledgeable. She has (at least temporarily!) calmed all my worries and we have some lovely photos of our little one. Thank you Lindsay

Alex

Kayleigh

My name is Kayleigh and I have worked with The Scanning Room for over 8 years, and over 20 years of experience within the NHS.

I started my career as a Healthcare Assistant (HCA) in 2004, then training as an assistant practitioner and radiographer. I Identified a passion for ultrasound in 2014 and successfully transitioned to the specialty through a secondment and training at King's College London where I achieved a PGd in Medical Ultrasound. I have extensive experience working across various NHS hospitals, honing sonography skills and building a strong foundation in this field.

I have a keen interest in women's health, actively participating in ongoing gynaecological and obstetric training to maintain comprehensive evidence- based knowledge.

I enjoy all elements of women's health sonography, from diagnosing gynecologically concerns and infertility assessments to witnessing the joy of expectant mothers during their pregnancy scans.

I love being able to contribute to our supportive team environment, and working with my friends/ Sonographers at the Scanning Room.

Daisy

I'm Daisy, I trained initially as a diagnostic radiographer in 2013 at Kingston & St George's University of London but knowing I always wanted to be a sonographer went into further study and specialized in ultrasound in 2018 at City University of London where I obtained a master's degree in medical ultrasound imaging. Currently I work both at the scanning room and in the NHS and I absolutely love my job.

I feel very passionately about giving our women and their families a very high standard of care and making sure they leave feeling reassured, empowered, and listened to. I believe that the more informed and relaxed women can be whilst undergoing gynaecological assessment, fertility treatment, when pregnant or just generally regarding their pelvic health, is only a good thing and I am proud to work at the scanning room where I know our close-knit and friendly team really do achieve this.

As a new mum myself, you'll find me spending lots of quality time with my family when I'm not scanning, as well as trying to renovate our home and trying to squeeze as much travel and fun in where we can.

Lucy

I am part of the reception team and I have been lucky enough to be a member of The Scanning Room family for 5 years now. I have two amazing grown up children, two incredibly naughty dogs, one very old and very demanding horse and I look after my friend’s small flock of 6 sheep!

After I’ve sorted all the animals out coming into the clinic is soo lovely and just what I need, the kettle is barely ever cold, the biscuit tin is, nearly!!!, always full and I get to spend a happy few hours chatting to our lovely families and laughing with, while learning from, our incredibly kind team of sonographers.

Being people centric has always been at the route of my working life. I started out as a Nanny for two gorgeous families, then after having my two, I worked as a fundraiser for a charity that provides activity centres with wheelchair accessible boats.

During an evening out with Lindsay, who is a very, very, very old friend of mine, we hatched a plan for me to join her growing Scanning Room family, and here I am 5 years in. I have learnt so very much about ‘how babies are made’ in terms of fertility, how our bodies work, how babies develop and grow within the womb and how our bodies change and evolve as we approach menopause.

Everyday is a learning day with The Scanning Room Team and everyday is full of fun, love and support.

I absolutely love my Job and I feel incredibly honoured to be a very small part of the life adventures our lovely families and individuals are experiencing.

Take care and I’m looking forward to seeing you all soon,

Ivy

Hello, my name is Ivy and I currently work for The Scanning Room and NHS as a Sonographer. After graduating with a degree in Diagnostic Radiography at the University of Exeter in 2013, I went on to complete a Post Graduate Diploma in Medical Ultrasound at City University 2018. I undertake obstetrics, gynaecology, general abdominal and MSK ultrasound scans.

I love my role as a Sonographer, especially providing reassurance to soon-to-be parents in one of the most special but sometimes worrying times of their lives. I have recently qualified in MSK ultrasound at the UWE and can now provide diagnostic scans for predominantly lumps and bumps and suspected muscle/tendon/ligament tears. In my spare time I enjoy playing tennis and running along the seafront with my husband, usually followed by coffee and cake!

After the scan...

We will create a detailed report for you with everything that we have seen and also give you pictures of your little bean.

Throughout the scan we will be talking about what your baby is doing, how it is developing and what it can do – such a lovely insight into your baby’s world.

If we sadly find that the things are not progressing as they should we discuss everything that we can see, giving you plenty of time to ask questions. We create a report and contact your local early pregnancy unit (EPU) for a follow up appointment.

What we do…

Usually performed over the tummy as transabdominal scan, for this reason having a moderately full bladder will help to see the pregnancy more clearly in the early weeks.

We will measure your little one crown to rump to get an estimated due date and assess that everything is developing normally for that number of weeks. We will also confirm that the pregnancy is in the right place within the uterus and check that the uterus and ovaries appear normal.

We also have the option of performing an internal scan if we don’t get great views over the tummy. This is entirely safe in early pregnancy and will be discussed with you as an option where needed.

So why would you have an early scan?

For most women they just want, or need to see their baby and confirm that the pregnancy is real! For others they may have sadly experienced a miscarriage and just need the peace of mind and reassurance that an early scan can bring. Time really seems to drag in the first trimester, seeing is certainly believing!

An early pregnancy scan will confirm the presence of a heartbeat, diagnose a single or multiple pregnancy and establish an estimated due date. It can be performed from 7 weeks of pregnancy, before this time it is not always possible to see the fetal heart beating but can confirm the pregnancy is in the right place and developing as it should for the number of weeks you are.

We also see women who have had bleeding and can’t be seen quickly in their local early pregnancy unit, or those that have had a loss of symptoms and are concerned – we can provide you with a service that fully assess how you are progressing and will give you all the information you need.

This early scan is not routinely available on the NHS and does not require a GP or Midwife referral.