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Certain diseases can be present at birth, even if there are no symptoms. Early detection and treatment of some disorders can help prevent permanent mental retardation, liver disease, or even sudden death. This early detection process is called newborn screening and includes a blood test and careful examination by a doctor or midwife.
In their first week of life, all babies in B.C. are offered a simple blood test. Just before the baby is discharged from hospital, a small blood sample is taken by a simple heel prick, which causes only a moment of discomfort. This sample is sent to the newborn screening lab for analysis. Babies born outside a hospital setting, at home under the care of a midwife, will be offered the test during a home visit within the first week.
The newborn screening test should be done between 24 and 48 hours after birth. The best time for blood collection is between 24 to 72 hours after birth. Babies should not leave the hospital without a blood test.
Babies born in hospital and discharged less than 24 hours after birth will require 2 blood tests - one just prior to discharge and a second blood test before 2 weeks of age.
Babies born outside a hospital setting, at home under the care of a midwife, will be offered the test during a home visit within the first week. You should discuss newborn screening with your physician, midwife or public health nurse to make sure your baby has the test done.
The results will be ready usually in a few days. You will not be contacted if the results are normal or negative. If one of the screening test results is positive, your family doctor or midwife will contact you, and additional testing will be arranged. The results of follow-up tests will either be normal and rule out the possibility of one of these disorders, or confirm the diagnosis.
Currently, newborn screening tests babies for 6 disorders:
The newborn screening program is expanding to test from 6 disorders to 19, including a test for cystic fibrosis. For more information, visit www.newbornscreeningbc.ca.
Approximately 45,000 babies are tested for these disorders every year in B.C., and about 20 children a year are identified with one of these treatable conditions.
Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare condition. It is found in about 1 out of every 18,000 newborns.
The screening test for PKU is not as reliable if it is done before the baby is 24 hours old.
A baby with PKU does not have enough of the enzyme that breaks down phenylalanine in the body. Phenylalanine is an amino acid in protein. It is found in foods such as meat, eggs, fish and milk, including breast milk. The condition and shortage of the enzyme leads to high levels of phenylalanine in the blood, which cause damage to the baby's brain. This usually leads to severe and irreversible mental retardation. Babies with PKU are put on a special diet low in phenylalanine to prevent brain damage. When treated early, mental retardation can be prevented in children with PKU.
Congenital Hypothyroidism (CH)
Congenital Hypothyroidism (CH) is more common than PKU - about 1 in 3,000 to 4,000 new babies are affected.
CH is easily detected by the blood screening test. The screening test for CH is reliable any time after birth.
Congenital means the baby was born with the condition. Hypothyroidism means that the thyroid gland, found behind the "Adams apple" in the neck, does not produce enough thyroxine. This hormone is needed for normal growth and development. If CH is not detected and treated early in life, severe mental retardation will occur. The treatment for CH is simple and effective. Babies are given thyroxine to replace the missing thyroid hormone, helping them to grow and develop normally.
Galactosaemia (GS)
Galactosaemia (GS) is a rare condition found in only 1 out of every 30,000 babies born in B.C. Early detection is critical.
The screening test for GS is reliable any time after birth.
A baby with GS does not have the special enzyme that breaks down galactose, and this causes the condition. Galactose is found in milk, including breast milk, and in most infant formulas. If the baby does not have the enzyme to break down galactose, it starts to build up in the body. Symptoms of this disorder include a general failure to thrive, liver problems such as jaundice, cataracts, mental retardation, and possibly infection that can cause death. A baby with GS is treated with a galactose-free diet.
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) is a rare condition. One baby in 20,000 is born with MCAD deficiency.
The screening test for MCAD is most reliable when it is done before the baby is 5 days old.
A baby with this condition may have problems using fats stored in his or her body as an energy source. These babies do fine when they eat well, but they may not be able to use stored fats for energy if they get colds and flus. There is a risk of sudden unexpected death, which can be prevented by eating a special diet and avoiding fasting.
Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
Approximately 1 baby in 50,000 will be born with Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD).
The screening test for LCHAD is most reliable when it is done before the baby is 5 days old.
This condition also results from an inability to use fats for energy. Babies with this condition often have poor feeding, heart problems and vision loss, and they are at risk of sudden death. These problems can be avoided by eating a special diet and avoiding fasting.
Glutaric Aciduria Type I(GA I)
Glutaric Aciduria Type I (GA I) is a very rare condition, with only 1 child in 100,000 born with this disorder.
The screening test for GAI is reliable any time after birth.
Babies with GAI do not have an enzyme needed to breakdown the amino acid lysine - one of the building blocks of proteins. This causes a toxin to build up in the body, which can cause sudden episodes of severe illness often leading to permanent brain damage. A special diet and careful monitoring of these babies when they have a cold or flu can mostly eliminate these severe episodes and avoid permanent brain damage.
Most test results are negative. However, if your baby is one of the very few found to have one of these conditions, the early detection of the disorder will help your baby get effective treatment as soon as possible. You will be referred to a doctor with experience in treating these disorders.
For more information on newborn screening, please contact your family doctor, registered midwife, or local public health unit.
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