Newborn Screening What is newborn screening?

Newborn screening (NBS) is a simple procedure to find out if your baby has a congenital metabolic disorder that may lead to mental retardation and even death if left untreated. Why is it important to have newborn screening? Most babies with metabolic disorders look normal at birth. One will never know that the baby has the disorder until the onset of signs and symptoms and more often ill effects are already irreversible. When is newborn screening done? Newborn screening is ideally done on the 48th hour or at least 24 hours from birth. Some disorders are not detected if the test is done earlier than 24 hours. The baby must be screened again after 2 weeks for more accurate results. How is newborn screening done? Newborn screening is a simple procedure. Using the heel prick method, a few drops of blood are taken from the baby's heel and blotted on a special absorbent filter card. The blood is dried for 4 hours and sent to the Newborn Screening Laboratory (NBS Lab). How much is the fee for newborn screening? P550. The DOH Advisory Committee on Newborn Screening has approved a maximum allowable fee of P50 for the collection of the sample. When are newborn screening results available? Newborn screening results are available within seven working days to three weeks after the NBS Lab receives and tests the samples sent by the institutions. Results are released by NBS Lab to the institutions and are released to your attending birth attendants or physicians. Parents may seek the results from the institutions where samples are collected. A negative screen mean that the result of the test is normal and the baby is not suffering from any of the disorders being screened. In case of a positive screen, the NBS nurse coordinator will immediately inform the coordinator of the institution where the sample was collected for recall of patients for confirmatory testing. Who will collect the sample for newborn screening? Newborn screening can be done by a physician, a nurse, a midwife or medical technologist. Where is newborn screening available? Newborn screening is available in participating health institutions (hospitals, lying-ins, Rural Health Units and Health Centers). If babies are delivered at home, babies may be brought to the nearest institution offering newborn screening.

Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function. If the disorder is not detected and hormone replacement is not initiated within (4) weeks. or adults. but in most of the developed world and areas of adequate environmental iodine. additional treatments to optimize growth by delaying puberty or delaying bone maturation . If not detMost of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants. Congenital Hypothyroidism (CH) CH results from lack or absence of thyroid hormone. resulting in an absent (athyreosis) or underdeveloped (hypoplastic) gland. In a small proportion of cases of congenital hypothyroidism. iodine trapping defect. dehydration and abnormally high levels of male sex hormones in both boys and girls. while even more have mild or partial degrees. providing replacement testosterone or estrogen at puberty if the person is deficient 4. Most commonly there is a defect of development of the thyroid gland itself. organification defect. Treatment of all forms of CAH may include any of: 1. supplying enough glucocorticoid to reduce hyperplasia and overproduction of androgens or mineralocorticoids 2. either isolated or as part of congenital hypopituitarism. ected and treated early.What are the disorders included in the Newborn Screening Package? 1. children. the baby's physical growth will be stunted and she/he may suffer from mental retardation. the most common cause of congenital hypothyroidism is iodine deficiency. and iodotyrosine deiodinase deficiency. thyroglobulin. providing replacement mineralocorticoid and extra salt if the person is deficient 3. 2. babies may die within 7-14 days. the defect is due to a deficiency of thyroid stimulating hormone. Congenital Adrenal Hyperplasia (CAH) is an endocrine disorder that causes severe salt lose. cases are due to a combination of known and unknown causes. which is essential to growth of the brain and the body. Among specific defects are thyrotropin (TSH) resistance. Congenital hypothyroidism can also occur due to genetic defects of thyroxine or triiodothyronine synthesis within a structurally normal gland.

including liver damage. etc). but galactosemia is a more serious condition. In contrast. tremors. Accumulation of excessive galactose in the body can cause many problems. galactosemia is not related to and should not be confused with lactose intolerance.g. neurological impairment (e. Babies who get on this special diet soon after they are born develop normally. foods and chemicals. 6PD deficiency occurs when a person is missing or doesn't have enough of an enzyme called glucose-6-phosphate dehydrogenase. however. Infants with classic galactosemia cannot be breast-fed due to lactose in human breast milk and are usually fed a soy-based formula Galactosemia is sometimes confused with lactose intolerance. and ovarian failure in females. Galactosemia (GAL) is a condition in which the body is unable to process galactose. For older children and adults. The best treatment for PKU is a diet of low-protein foods. Babies with this deficiency may have hemolytic anemia resulting from exposure to certain drugs. Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) is a condition where the body lacks the enzyme called G6PD. brain damage and cataracts. Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase. Phe is in almost all foods. it can damage the brain and cause severe mental retardation. some individuals with galactosemia experience long-term complications such as speech difficulties. If the Phe level gets too high. and experience abdominal pains after ingesting dairy products. the diet includes many fruits and vegetables. and many individuals with Duarte galactosemia do not need to restrict their diet at all. Even with an early diagnosis and a restricted diet. Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Excessive accumulation of phenylalanine in the body causes brain damage. learning disabilities. pastas and cereals. Phenylketonuria (PKU) is a metabolic disorder in which the body cannot properly use one of the building blocks of protein called phenylalanine.3. Although the sugar lactose can metabolize to galactose. Many have no symptoms of PKU. a galactosemic individual who consumes galactose can cause permanent damage to their bodies. There are special formulas for newborns. 4. . Symptoms have not been associated with Duarte galactosemia. 4. It is important that they stay on the diet for the rest of their lives. The only treatment for classic galactosemia is eliminating lactose and galactose from the diet. Nutritional formulas provide the vitamins and minerals they can't get from their food. which helps red blood cells work properly. but no long-term effects. is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. the sugar present in milk. It also includes some lowprotein breads.

Disorder Screened CH (Congenital Hypothyroidism CAH (Congenital Adrenal Hyperplasia) GAL (Galactosemia) PKU (Phenylketonuria G6PD Effects SCREENED Severe Mental Retardation Death Death of Cataracts Severe Mental Retardation Severe Anemia. in some cases What should be done when a baby is tested a positive NBS result? Babies with positive results should be referred at once to the nearest hospital or specialist for confirmatory testing and further management. or to stress.wikipedia. Should there be no specialist in the area. Symptoms are more common in men and may include:  Dark urine  Enlarged spleen  Fatigue  Pallor  Rapid heart rate  Shortness of breath  Yellow skin color (jaundice) Treatment may involve:  Medicines to treat an infection. it is called a hemolytic episode.doh. if present  Stopping any drugs that are causing red blood cell destruction  Transfusions. Kernicterus Effect if SCREENED and treated Normal Alive and Normal Alive and Normal Normal Normal References http://www. The episodes are usually brief.html http://www.Too little G6PD leads to the destruction of red blood which have normal .html http://www. This process is called the NBS secretariat office will assist its attending physician. When this process is actively occurring. Persons with this condition do not display any signs of the disease until their red blood cells are exposed to certain chemicals in food or medicine.nih.nlm. because the body continues to produce new red blood cells.

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