what abnormalities can be seen at 12-week scan?

Nuchal Translucency Scan

This is often parents’ favourite scan – you will be amazed at just how much detail you can see and if everything looks normal, the risk of miscarriage and major abnormality becomes very small. If you haven’t had a scan yet, this scan will:

Make sure that the pregnancy is in the right place
Count how many babies there are!
Accurately date your pregnancy and decide on a definite due date for you
Look at the basic structure of the baby

But the main purpose of this particular scan is to screen for chromosomal abnormalities such as Down’s syndrome. Down’s syndrome is something that affects about 1 in 700 pregnancies overall, but it becomes more common as a mother gets older. It happens because the egg that is released at conception has an extra copy of chromosome 21 and this in turn leads to every cell in the baby having an extra copy of chromosome 21.

This causes a wide range of both physical disability and learning difficulties. At the moment there still isn’t a completely safe test that will tell you that your baby definitely does or doesn’t have Down’s syndrome, but the NHS offers everyone combined first trimester screening, which is a test performed at around 12 weeks using a combination of ultrasound scan findings and a basic blood test to assess the likelihood of whether your baby is or isn’t affected. The key ultrasound marker at this stage is the nuchal translucency measurement, or the space at the back of the baby’s neck. At this stage in the baby’s development it is normal for some fluid to build up in this space at the back of the baby’s neck – it happens to every baby so a little bit of fluid is entirely normal, but a baby with problems will often retain more fluid and the nuchal translucency measurement is increased. As well as being a good marker for babies with Down’s syndrome, an increased nuchal translucency measurement can also pick up other genetic conditions, such as Edwards’ syndrome (where the baby has an extra copy of chromosome 18) and Patau’s syndrome (an extra copy of chromosome 13), and some other structural problems, including heart abnormalities.

Nuchal translucency scan

The nuchal translucency scan is best done during the 12th week, but it can be done from 11 weeks and 3 days up until 14 weeks and your local NHS hospital will offer you an appointment to have this done at around this time. Nevertheless, some parents may opt to have this done privately instead.
Reasons why patients choose to have it done at Beard Mill Clinic include:
Plenty Of Time

Each appointment at Beard Mill Clinic is allocated one hour to make sure that there is plenty of time to do the scan and discuss the results with you.
Wealth Of Experience

Victoria has spent over 20 years working with Professor Kypros Nicolaides who has been the leading pioneer in developing the nuchal translucency scan and screening for abnormalities at this stage of pregnancy. During this time, she has been directly involved in developing the risk calculation software and in teaching other people how to perform the nuchal scan. In doing this, she has come to understand the screening process inside out and can use her expertise to give you the best possible advice.
Extra Markers

Victoria is trained and certified to look at the additional markers for Down’s syndrome that are not routinely offered at most other scanning clinics. These additional markers include:

Looking at the baby’s nose bone and its profile
Listening to the flow of blood across a valve in the baby’s heart (the tricuspid valve)
Measuring the resistance in the vessel that takes blood into the baby’s heart (the ductus venosus)

Babies with Down’s syndrome are more likely to have a small or absent nose bone, with a flat profile. They often have leakage across the tricuspid valve and reverse flow in the ductus venosus. So adding in these additional markers will take the average detection rate of the standard technique of 80% up to 95%.
Same Day Results

When the blood has been taken in advance of the scan, Victoria is able to process all the results straight away and explain both the scan findings and blood results to you, showing you how your measurements fall within the context of the “normal” range and how this then affects your own specific risk for Down’s syndrome.

The risk calculation software used at Beard Mill Clinic displays simple graphs which really help you understand what the risk means and Victoria gives you plenty of time to ask questions and clarify anything you are not sure about. You then take away a comprehensive report with all the results clearly documented.

Even if the blood results are not available, Victoria will give you as much explanation as she can based on the scan findings and help you to understand how the blood results fit into the risk assessment. She is able to process blood samples within 24 hours, so will ring you the following day with the final result and then e-mail you your report.
Early Blood Tests

The blood test that is used to screen for Down’s syndrome is usually taken at the time of the nuchal translucency scan, but the research data suggests that the results are actually more accurate if the blood is taken at 9 weeks, rather than 12 weeks. So wherever possible, Victoria will try to arrange for you to have your blood test before your scan. This has the double advantage of giving you the best possible result and ensuring that the blood results are ready when you come for your scan, so that your risk can be discussed with you face-to-face, rather than given to you by letter a week or two later, or over the phone.

Of course this isn’t always possible to arrange, in which case, it can be done at the same time as the scan. But as an added incentive, Victoria will offer to do a quick scan if you come to Beard Mill Clinic early to have the bloods taken, allowing you to hear the heart beat and to check your dates. There is no additional charge for this.
Awkward Babies

Some of the patients who contact Beard Mill Clinic about the nuchal translucency scan do so because it hasn’t been possible to measure the nuchal when they went for their routine NHS appointment. This is often because the baby wasn’t in the right position, but Victoria has the luxury of much more time and has not yet failed to get a nuchal measurement. So if you find yourself in this position, do ring to make an appointment.
Referral For Further Tests

In most cases, patients will be reassured by their result, but if your risk of Down’s syndrome is high, or a problem is suspected, Victoria will arrange a direct referral to your own NHS consultant and ensure you receive the right follow-up.
Full Explanation

Taking the measurements is the easy bit, interpreting the results and communicating these to the parents can sometimes be the more challenging part of screening. And this is where Victoria’s expertise comes into its own.

Through her training, she has acquired a deep understanding of how the individual components of the screening tests work and endeavours to explain this as fully as she can.

She is passionate about providing each and every patient with the best possible standard of screening and then equipping them with the knowledge and understanding to use this information appropriately.

“ Victoria is not only thorough, calm, reassuring and clearly highly experienced, but the best part is that she explains everything as she does the scan so at 12 weeks we saw our baby’s heart, kidneys, stomach, brain etc. It was a magical experience and we appreciated having the extra time and the extra information during it. ”

Emily, Oxford