They can all be treated with a carefully managed diet and, in some cases, medicines as well. The diseases all have different symptoms.ĭepending on which one affects your baby, the condition may be life threatening or cause severe developmental problems. Without treatment, babies with inherited metabolic diseases can become suddenly and seriously ill. The other conditions are rarer, occurring in 1 in 100,000 to 150,000 babies. homocystinuria (pyridoxine unresponsive) (HCU)Ībout 1 in 10,000 babies born in the UK has PKU or MCADD.medium-chain acyl-CoA dehydrogenase deficiency (MCADD).It's important to let your healthcare professional know if you have a family history of a metabolic disease (a disease that affects your metabolism).īabies are screened for 6 inherited metabolic diseases. The British Thyroid Foundation has more information about congenital hypothyroidism Inherited metabolic diseases Without thyroxine, babies don't grow properly and can develop learning disabilities.īabies who have the condition can be treated early with thyroxine tablets, and this allows them to develop normally. Babies with congenital hypothyroidism don't have enough of the hormone thyroxine. GOV.UK also has a leaflet for parents whose baby has suspected cystic fibrosis Congenital hypothyroidismĪbout 1 in every 2,000 to 3,000 babies born in the UK has congenital hypothyroidism. This inherited condition affects the digestion and lungs.īabies with cystic fibrosis may not gain weight well and are prone to chest infections.īabies with the condition can be treated early with a high-energy diet, medicines and physiotherapy.Īlthough children with cystic fibrosis may still become very ill, early treatment can help them live longer, healthier lives. GOV.UK also has a factsheet about sickle cell disease Cystic fibrosisĪbout 1 in 2,500 babies born in the UK has cystic fibrosis. Pregnant women are also routinely tested for sickle cell disease early in pregnancy. This may include vaccinations and antibiotics to prevent serious illnesses. The blood spot screening test means that babies with sickle cell disease can receive early treatment to help them live healthier lives. They're usually anaemic because their blood cells have difficulty carrying oxygen. People with sickle cell disease can have attacks of severe pain and get serious, life-threatening infections. Sickle cell disease affects haemoglobin, the iron-rich protein in red blood cells that carries oxygen around the body.īabies who have this condition will need specialist care throughout their lives. This is a serious inherited blood disease. Sickle cell diseaseĪbout 270 babies are born with sickle cell disease in the UK each year. If you, your partner or a family member already has one of these conditions (or a family history of it), tell your healthcare professional straight away. The blood spot test screens for the following 9 rare but serious conditions. Which conditions is the blood spot test for? The test doesn't carry any known risks for your baby. It doesn't necessarily mean there's something wrong with your baby. The reason for this will be explained to you. Sometimes a second blood spot sample is needed. Occasionally, the sample may need to be taken when your baby is 6, 7 or 8 days old. You can ease any distress for your baby by cuddling and feeding them, and making sure they're warm and comfortable. When your baby is 5 days old, a healthcare professional will prick their heel and collect 4 drops of blood on a special card. Most babies won't have any of these conditions but, for the few who do, the benefits of screening are enormous.Įarly treatment can improve their health, and prevent severe disability or even death. Newborn blood spot screening involves taking a blood sample to find out if your baby has 1 of 9 rare but serious health conditions. Every baby is offered newborn blood spot screening, also known as the heel prick test, ideally when they're 5 days old.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |