Newborn Screening

What is newborn screening?
Newborn screening tests for a number of disorders. Most tests reveal healthy babies but, when results are abnormal, early diagnosis and treatment can sometimes make the difference between healthy development or lifelong disabilities, including mental retardation or possible death.

Is it necessary for my baby to have a newborn screening test?
Every state and U.S. territory requires screening for newborns in the first few days of life. Disorders screened for vary from state to state as does the process. Most states allow up to three weeks to complete the process of screening to diagnosis.

How will they test my baby?
The baby's heel is pricked to get a few drops of blood. This can be used to screen for several disorders. The blood specimen is usually sent to a laboratory for testing and results are sent to the health professional responsible for your baby's care. Metabolic disorders that can't be detected through blood screening are detected in babies three to four weeks old through urine specimens. Parents are usually given a specimen kit when they leave the hospital. All that's required is to press a filter paper card onto the baby's wet diaper and then send this to a laboratory for testing.

What will my baby be screened for?
Most states test for three to eight different disorders, which can include:

• Biotinidase Deficiency - a disorder where there is insufficient biotin (one of the vitamin B complex group). One in 70,000 infants have this disorder. Symptoms usually appear around three months after birth. With treatment the symptoms disappear.
• Sickle Cell Disease is an inherited blood disorder that affects one in 400 African-American babies and also occurs among people of Hispanic, Mediterranean, Middle Eastern and South Asian descent. More than 40 states screen for this disorder. Treatment with penicillin dramatically reduces symptoms.
• Congenital Adrenal Hyperplasia (CAH) - a deficiency of certain hormones that can affect genital development and can cause death in some newborns due to loss of salt from the kidneys. About 10 states test for CAH, a group of disorders that occurs in one in 12,000 births. CAH is treated by replacing missing hormones.
• Congenital Hypothyrodism - a thyroid hormone deficiency that slows growth and brain development. It is often identified in routine screening and affects one in 4,000 babies. If it's detected in time, a baby can be treated with thyroid hormone.
• Cystic Fibrosis - occurs in up to one in 2,000 white babies (less common in African-American and Asian babies) and produces chronic respiratory disease, digestion problems and poor growth. Recent improvements in treatment have led to longer and healthier lives for children.
• Galactosemia - a disorder where infants are unable to convert galactose, a sugar present in milk, into glucose, a sugar the body is able to use. All states and territories screen for Galactosemia, which affects one in 50,000-80,000 babies. Children treated with a special diet, that includes removing milk and diary products, show good health and growth.
• Homocystinuria - a metabolic disorder resulting from a deficiency of the enzyme cystathionine needed for normal brain development. It occurs in approximately one in 200,000 newborns and can be treated with a special diet and cystine supplement. Testing is available in 21 states.
• Maple Syrup Urine Disease (MSUD) is a hereditary disease identified by an unusual maple syrup odor in the urine. Symptoms appear a few days after birth. Prompt treatment with a special infant formula that does not contain any leucine, isoleucine or valine but is otherwise nutritionally complete must begin right away. Children who follow a special diet usually live normal lives.
• Phenylketonuria (PKU) was the first newborn screening test in the U.S. All states and territories screen newborns for PKU, which affects one in 10,000-25,000 babies. Infants with PKU can't process part of a protein, called phenylalanine, found in certain foods. Treatment requires eliminating foods with naturally high protein, to remove phenylalanine from the diet in the first weeks of life, and maintaining a protein-restricted diet through childhood and, in some cases, throughout adulthood.
• Thalassemia is an inherited blood disorder caused by the inability of red blood cells to properly carry oxygen to the body. Treatment includes medication and blood transfusions. Studies reveal that one in every 25,000 births result in thalassemia. Forty states currently test for hemoglobinopathies, including thalassemia.
• Tryosinemia is a hereditary amino acid disorder that causes severe liver disease in infancy. Symptoms can appear in the first months so early detection is important.

Sources:

Centers for Disease Control and Prevention

March of Dimes

Save Babies Through Screening Foundation, Inc.