NIPT and Me Cardiff Life Magazine

NIPT and Me - Cardiff Life



Planning a pregnancy and being pregnant is an important time but also a time of uncertainty and anxiety for many. INNERMOST HEALTHCARE are here to help…

Although many pregnancies are unplanned, there is an opportunity prior to getting pregnant for women to optimise their health and the likelihood of a healthy pregnancy and a healthy baby. Consider issues such as stopping smoking and alcohol consumption, adopting a healthy diet and managing your weight, taking folic acid, checking your blood pressure and talking to your GP about any health issues like diabetes, epilepsy etc.


Currently in the UK all pregnant women are offered an ultrasound scan and a hormone blood test (Combined Test) around 11-13 weeks of pregnancy to screen for Down Syndrome, Edward Syndrome and Patau Syndrome. These are genetic conditions due to an extra copy of a chromosome e.g. chromosome 21 in Down Syndrome (Trisomy 21). These conditions are associated with learning difficulties, heart and structural developmental problems, miscarriage and stillbirth. They are also more likely to occur in babies born to older pregnant women. Those with an increased risk are then offered a blood test called NIPT which can analyse DNA from the pregnancy which is circulating in the mother’s blood stream. If this shows a high chance of the baby having the condition then amniocentesis would be offered.


This is  a diagnostic test based on a sample of  fluid taken from the pregnancy sac. This test, however, carries a 0.5 per cent risk of miscarriage. This approach to screening can only identify about 85 per cent of pregnancies where the baby has one of these conditions.


Some people will choose to have NIPT directly as it is a more reliable test than the Combined Test with a 99 per cent detection rate for Down Syndrome, Edward Syndrome and Patau Syndrome. PANORAMA NIPT can be done from nine weeks of pregnancy and works for twins. Another advantage of the PANORAMA NIPT test is it can screen for a wider range of genetic conditions and identify the sex of both the baby or babies if twins. Not only can it identify the chance of having extra chromosomes but also the chance of having certain missing parts of a chromosome (microdeletions). One of the common microdeletions is due to a missing part of chromosome 22 called Di George Syndrome. Babies with this condition have an increased risk of heart defects, cleft palate, immune problems, seizures and learning difficulties. Not all NIPT tests are the same and some of the more advanced tests such as PANORAMA use artificial intelligence and advanced laboratory testing to analyse the results making them even more accurate and allowing them to identify a wider range of conditions. They can also identify some pregnancies at higher risk of placental problems, miscarriage and poor growth in later pregnancy that may benefit from closer monitoring.


When thinking about screening in pregnancy, people often consider how frequently the condition occurs, how it will affect the baby and what it would mean for them and their families. It also helps them to make specific plans of care for babies who might need them. For more information about NIPT and our testing services, please get in touch or CLICK THIS LINK

Ashtree Medical Clinic, 3 Ashtree Court, Woodsy Close, Cardiff, CF23 8RW Email Tel: 03331217121 Clinic, 3 Ashtree Court, Woodsy Close, Cardiff, CF23 8RW Email Tel: 03331217121

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Bryan Beattie
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