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Private nuchal scan at Beard Mill Clinic, Oxfordshire

For your peace of mind, Beard Mill Clinic offers combined first trimester screening, incorporating detailed nuchal translucency scan and blood test. This is designed to identify some of the more common fetal abnormalities at 11-14 weeks of pregnancy.

Although the great majority of babies are normal, occasionally some have abnormalities. The commonest genetic abnormality is Down’s syndrome, which occurs in approximately 1 in 600 pregnancies. It is more common in older mothers, but can occur in any pregnancy, regardless of the mother’s age. The developing baby has an additional chromosome in each cell (chromosome 21), causing a wide spectrum of disability in affected children. More details can be found on the Down's Syndrome Association website www.downs-syndrome.org.uk

In the early 1990s the association between increased nuchal translucency at 11-14 weeks and Down’s syndrome was identified by Professor Nicolaides and his research team at King’s College Hospital. Since then, a huge amount of resource has been devoted to refining the nuchal scan and improving the screening tests for Down’s syndrome. The latest research suggests that the optimum first trimester screening test is provided by a combination of the:
   
  • age of the mother
  • amount of fluid behind the neck of the baby (nuchal translucency)
  • presence or absence of the baby’s nasal bone
  • presence or absence of any leakage inside the baby’s heart (tricuspid regurgitation)
  • presence or absence of any physical abnormalities
  • level of two hormones (ß·hCG & PAPP·A) in the mother’s blood
   

At Beard Mill Clinic in Oxfordshire, all of these factors are taken into account and the latest risk calculation software developed by the Fetal Medicine Foundation is used to calculate the risk for Down’s syndrome. Parents receive full counselling concerning the significance of this risk and the various options for further testing.
If you would like to arrange an 11-14 week nuchal scan Contact us. Alternatively, if you would like to discover more about the various components of the nuchal scan, see below.

Nuchal translucency

All babies will have a small amount of fluid at the back of their neck at this stage in the pregnancy, but it is now well recognised that babies with problems – in particular Down's syndrome, but other chromosomal or structural abnormalities too – may have more fluid. Therefore a careful measurement is taken of the fluid and used in the risk calculation to assess the risk for Down's syndrome. If there is a lot of fluid, but Down's syndrome is excluded, there is a risk that the baby may have a structural problem that has led to the accumulation of fluid. In this instance parents will be offered a detailed scan of the baby at 20 weeks, looking in detail at the baby, and in particular its heart, to exclude a physical abnormality. If however the increased nuchal fluid resolves spontaneously, and no obvious cause is found, parents can be reassured that the baby has an excellent prognosis.

 Image of a Normal Nuchal Translucency Measurement Scan

Nasal bone measurement

It is recognised that babies with Down's syndrome have quite a flat facial profile and this is because the nose bone fails to form properly. The nasal bone is often visible from as early as 11 weeks, but even in normal babies, its development may be delayed to 15 weeks. If it can be seen clearly at the 11-14 week scan, it is reassuring and the risk for Down's syndrome will be reduced. If it cannot be seen at the 11-14 week scan, parents are asked to return to check at 16 weeks and only if it is still absent at this point will the increased risk for Down's syndrome be discussed.

Image of a Nasal Bone Measurement Scan

Tricuspid regurgitation

There is also an association between Down's syndrome and leakage, or regurgitation, across the triscupid valve, a valve separating the two pumping chambers on the right side of the heart. This regurgitation can be seen using a special form of ultrasound, Doppler ultrasound, which looks at the direction and pattern of flow of blood. If there is leakage across the valve, the risk for Down's syndrome will increase. Conversely, if there is no tricuspid regurgitation at the time of the 11-14 week scan, the risk for Down' syndrome is reduced.

 

 Image of a Normal Flow Across the Tricuspid Value Scan
 

The blood test
The 11-14 week nuchal scan performed at Beard Mill Clinic is a combined test, incorporating both the ultrasound findings and the first trimester blood test result. The blood test can be performed between 8 and 14 weeks. Arrangements will be made when you book your appointment, either for you to come into clinic a few days before your nuchal scan appointment to have your blood taken, or for you to be sent a pack that will provide all that you need to have your blood taken locally by your GP or midwife. Either way, we try to make sure that your blood result is available when you come for your nuchal scan, allowing the final combined result to be discussed with you at the time of your appointment.

Nuchal Scans - Screening for other chromosomal abnormalitie

Although these tests are intended to screen for Down's syndrome, they are also indicators of other chromosome abnormalities, such as Edward's syndrome (Trisomy 18) and Patau's syndrome (Trisomy 13). These syndromes are much less common than Down's syndrome, but are similar in that each cell has an extra chromosome (an extra chromosome 18 in the case of Edward's syndrome and an extra chromosome 13 in the case of Patau's syndrome). However, both of these conditions are very serious and affected babies die before they are born or very shortly afterwards. The screening tests used at the time of the 11-14 week scan can be used to identify those babies at high risk of Edward's and Patau's syndrome in the same way that they can be used to give a risk for Down's syndrome and at Beard Mill Clinic these results will be discussed with you and printed on your report.

At Beard Mill Clinic, Oxford we are delighted for offer this specialist and reassuring service to parents. Contact us to discover how a nuchal scan can enhance your pregnancy. Alternatively, if you would like to read more about Dr Victoria Heath, our Fees or How to find us in Oxfordshire, please follow our links.

 

 


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