A newborn metabolic screen (also known as PKU or newborn screen) is a blood test obtained on every newborn after 24 hours of life and is required in every U.S. state. Some states will repeat this test again at 1-2 weeks of life. This test screens for a multitude of metabolic abnormalities (ex. thyroid function, sickle cell disease, phenylketonuria, galactosemia, etc.).
There are over 50 conditions that can be screened for; however, many states only screen for a core panel of 29 treatable disorders To learn more about your states testing procedure and the disorders screened, visit: Baby's First Test. Find your state's law regarding Newborn Metabolic Screening here. For a fee, you can request additional testing to be preformed if you desire more extensive testing not performed by the state test. Be sure to discuss additional testing availability with your pediatrician or obstetrician before your due date. Here are a few additional screening tests available"
The test is performed by collecting a few drops of blood from your baby’s heel onto a special filter paper. Once collected, the blood will be sent to the state laboratory for analysis. Don't panic if the state sends you an official letter reporting your baby’s first PKU test as abnormal. This occurs frequently with the first test and can be due to inadequate protein intake prior to the test, improper collection procedure, or damaged test collection paper. Be sure to follow-up with your pediatrician for further testing and evaluation to rule out serious health issues.
Many states retain the blood spots collected for the newborn metabolic screening to use for quality improvement and research to detect additional treatable disorders. If you do not wish for your baby’s blood to be stored and used for research, talk to your baby’s healthcare providers regarding your concerns and ask for a “Parental Decision for Storage and Use of Newborn Screening” form which allows you to consent or refuse for your baby’s blood to be retained by the state. Many states provide this form to parents.
Here is a "Quick Reference to Newborn Screening Disorders" guide
Biotinidase Deficiency (BIO)- BIO is an enzyme deficiency that occurs in about 1 in 60,000 U.S. newborns and can result in seizures, hearing loss, and death in severe cases. Treatment is simple and involves daily doses of biotin.
Congenital Adrenal Hyperplasia (CAH)- CAH is caused by decreased or absent production of certain adrenal hormones. The most prevalent type is detected by newborn screening in about 1 in 15,000 newborns. Early detection can prevent death in boys and girls and sex misassignment in girls. Treatment involves lifelong hormone replacement therapy.
Congenital Hypothyroidism (CH) - Inadequate or absent production of thyroid hormone results in CH and is present in about 1 in 3,500 newborns. Thyroid hormone replacement therapy begun by 1 month of age can prevent intellectual and growth disabilities.
Congenital Toxoplasmosis (TOXO)- Infection of the fetus with a parasite ingested by the mother during pregnancy can result in TOXO in the newborn. The transmission rate is about 30% and the national incidence is approximately 1 in 10,000 newborns based on limited screening. Early diagnosis and drug therapy reduces the risk of blindness, mental retardation or other serious complications.
Cystic Fibrosis (CF) - CF occurs in about 1 in 4,000 U.S. newborns and is characterized by progressive lung disease, pancreatic dysfunction and other organ failures. Con¬rmatory testing usually involves sweat testing and treatment leads to decreased hospitalizations and better nutritional and pulmonary outcomes. Caucasians are at an increased risk.
Galactosemia (GAL)- Failure to metabolize the milk sugar galactose results in GAL and occurs in about 1 in 50,000 U.S. newborns. The classical form detected by newborn screening can lead to cataracts, liver cirrhosis, intellectual disability, and/or death. Treatment is elimination of galactose from the diet usually by substituting soy for milk products. (1)
Homocystinuria (HCY)- HCY is caused by an enzyme deficiency that blocks the metabolism of an amino acid that can lead to mental retardation, osteoporosis and other problems if left undetected and untreated. The incidence is approximately 1 in 350,000 U.S. newborns. Treatment may involve a special restricted protein diet and supplemental medicines, including Vitamin B6.
Maple Syrup Urine Disease (MSUD)- MSUD is a defect in the way that the body metabolizes certain amino acids and is present in about 1 in 200,000 U.S. newborns. Early detection and treatment with a special restricted protein diet can prevent death and severe intellectual disability. There is an increased risk in Mennonites.
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency- The most common disorder in the way the body metabolizes fatty acids is called MCAD deficiency. Undetected, it can cause sudden death. Treatment is simple and includes ensuring frequent food intake. The incidence from newborn screening is not yet known, but is thought to be approximately 1 in 15,000 U.S. newborns.
Phenylketonuria (PKU)- An enzyme defect that prevents metabolism of phenylalanine, an amino acid essential to brain development, is known as PKU and occurs in approximately 1 in every 19,000 newborns. Undetected and untreated with a special restricted protein diet, PKU leads to irreversible mental disability. Persons of European descent are at increased risk.
Sickle Cell Disease (SCD)- Sickle cell anemia (Hemoglobin-SS-Disease) is the most prevalent SCD and causes clogged blood vessels resulting in severe pain and other severe health problems. Other common SCDs include Hemoglobin-SC-Disease and various thalassemias. Newborn screening detects about 1 in 2,500 newborns with SCD annually. Persons of African or Mediterranean descent are at an increased risk.
Other Fatty Acid Oxidation (FAO) Disorders- Besides MCAD deficiency, other FAO disorders may be detected through newborn screening. They are usually described in categories based on the length of the fatty acid involved. Undetected and untreated they can cause seizures, coma, and even death. The incidences of various FAO disorders are not known since it is only recently that early detection through newborn screening has occurred.
Organic Acid (OA) Disorders- Organic acidemias are a group of metabolic disorders that lead to accumulation of organic acids in the blood and urine and may be detected in newborn screening through analysis of acylcarnitine profiles. Symptoms can be diminished by restricting protein in the diet and supplementation with vitamins and/or carnitine. Because newborn screening for these disorders is relatively new, the degree of occurrence in newborns is not yet known.
Urea Cycle Disorders (UCD)- A UCD is a genetic disorder caused by a deficiency of one of the enzymes responsible for removing ammonia from the blood stream. Some UCDs may be detected as a part of newborn screening. They are characterized by seizures, poor muscle tone, respiratory distress, and coma, and result in death if left undetected and untreated. Because newborn screening for these disorders is relatively new, the degree of occurrence in newborns is not yet known.
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