Press Release October 2012 New developments to help pregnant women and newborn babies NHS Western Isles is now offering a full range of prenatal and newborn screening tests, following the recent introduction of a test to detect Down’s syndrome. The new test for Down’s syndrome, known as the nuchal translucency screening test (also called the NT or nuchal fold scan) was recently added to the Western Isles pregnancy and newborn screening programme and is now being offered to all women in the first trimester of their pregnancy. The test is a prenatal test that can help a woman’s healthcare practitioner assess a baby’s risk of having Down’s syndrome and some other chromosomal abnormalities as well as major congenital heart problems. The scan is carried out between 11 and 14 weeks in pregnancy at the same time as a blood screening test. The NT scan is not invasive. It uses ultrasound to measure the clear (translucent) space in the tissue at the back of a developing baby’s neck. Babies with abnormalities tend to accumulate more fluid at the back of their neck during the first trimester, causing this clear space to be larger than average. Those pregnant women registering for support from maternity services after their first trimester but before 20 weeks gestation will have the opportunity to have the Down’s syndrome screening and blood test at that stage. This combined test is offered between 11 and 14 weeks in pregnancy, much earlier than the previously offered blood test which was know as the AFP (Alpha Fetal Protein) blood test, which was only offered between 16 and 20 weeks. For this reason we are encouraging local pregnant women to book an appointment with a midwife early on in their pregnancy. Other tests carried out locally include: the newborn blood spot test, to detect two inherited conditions – Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and Sickle Cell Disorder (SCD); and screening in pregnancy for inherited blood disorders which affect the haemoglobin (oxygen carrying) component of blood to identify sickle cell disorders and thalassaemia. Testing early in a baby’s life gives the best chance of identifying, investigating and, if appropriate, managing these underlying conditions. This can offer the potential to prevent serious illnesses that can, in some cases, prove fatal. If you wish more information about these conditions, tests, or any other aspect of pregnancy care, the new leaflets ‘Your guide to screening tests during pregnancy’ and ‘Your guide to newborn screening tests’ are good place to start. Press Release If you are pregnant then ask your midwife for the leaflets, and about any other questions you might have. The leaflets also list other sources of information or support. They can also be accessed on the NHS Health Scotland website by visiting www.healthscotland.com/pregnancynewborn NHS Western Isles Senior Midwifery Manager Catherine Macdonald, said: “These latest developments to the screening programmes for pregnant women and newborn babies will further strengthen our existing services. “Most babies in Scotland are born healthy. It’s important that where we can, we are able to identify and detect any conditions which may have an impact on the health and wellbeing of the baby or their mother. “In providing more extensive and accurate testing, we will also ensure that we continue to offer parents the best information and advice available to help them make informed choices about their care and treatment both in pregnancy and when their baby is born.” She added: “We are pleased to now be able to offer the first trimester combined screening test for Down’s syndrome, to local women. If you are further along in your pregnancy and haven’t registered for support from maternity services in your first trimester and are not yet 20 weeks pregnant, you still have the opportunity to have the AFP blood test.” Notes to editors 1. A newborn blood spot test is currently offered for all newborn babies, usually around five days of age. This is done by a midwife pricking the baby’s heel to obtain a few small drops of blood. To date the blood has been tested for Phenylketonuria (PKU); Congenital Hypothyroidism (CHT); and Cystic Fibrosis (CF). Most test results will show that there are no health problems. Diagnostic testing will be arranged if the blood spot test produces a result which indicates further investigation. The test will also identify carriers of sickle cell disorders and families will be supported with information. A hearing test and a physical examination is also offered for all newborns. 2. About 1 in 10,000 babies born in Scotland has Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). Babies with this inherited metabolic condition have problems breaking down certain fats in order to make energy for their body. This is not a problem when a baby is well and feeding normally but it can lead to serious illness and in some cases could be fatal where a baby has an infection or goes for a long time without food. 3. Sickle Cell Disorder (SCD) is an inherited condition affecting 1 in 2,500 babies born in the UK. It is a condition that affects the quality of the cells which carry oxygen in the blood. The blood cells of someone with SCD change from a round shape to a ‘sickle’ shape, and get stuck in the small blood vessels. This can cause pain and damage to the baby’s body, sometimes leading to serious infection and can be fatal. Once detected, treatment includes antibiotics and immunisations to help prevent serious illness. Press Release 4. People with Down’s syndrome have an extra copy of chromosome 21 – they have three instead of two. Many people with Down’s syndrome enjoy a healthy life, but there are a number of health problems associated with Down’s syndrome, such as heart defects, thyroid problems and reduced hearing and eyesight. Many of these can be treated, and frequent health checks can minimise some of these. In some cases however there can be a severe impact on health, requiring significant clinical care during a person’s lifetime. 5. More information about these conditions, tests, and or any other aspects of pregnancy care are available in the new leaflets ‘Your guide to screening tests during pregnancy’ and ‘Your guide to newborn screening tests’. These can also be in GP and healthcare setting and on-line at: www.healthscotland.com/pregnancynewborn 6. When women find out they are pregnant they should call their GP surgery or health centre and ask for an appointment with a midwife. Getting in early means the NHS can plan and provide the care and support for women and their babies. 7. A guide through the phases of pregnancy and the first 12 months with a new baby can be found by visiting: www.readysteadybaby.org.uk Contact: Maggie Fraser Communications Manager 01851 708060 07810527457 Press Releases/Screening/October 2012 Press Release NHS Western Isles “The best at what we do” NHS Western Isles will work actively with patients, the public and our partners to improve our community's health and wellbeing, to tackle inequalities, and to deliver high quality, reliable clinical services. "SÀR-MHATH AIR NA THA SINN A'COILIONADH" Obraichidh Bòrd Slàinte nan Eilean Siar còmhla ri euslaintaich, am poball agus ar compàirtean gu piseach a thoirt air slàinte agus maitheas ar coimhearsnachd, gu neo-ionannachd a sheachnadh, agus gu seirbhisean chlionaigeach a tha earbsach agus aig àrd-inbhe a lìbhrigeadh.