PKU Newborn screenings

Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth. Many of these are metabolic disorders, often called "inborn errors of metabolism," which interfere with the body's use of nutrients to maintain healthy tissues and produce energy. Other disorders that may be detected through screening include problems with hormones) or the blood.

In general, metabolic and other inherited disorders can hinder an infant's normal physical and mental development in a variety of ways. And parents can pass along the gene for a certain disorder without even knowing that they're carriers.

With a simple blood test, doctors can often tell whether newborns have certain conditions that could eventually cause problems. Even though these conditions are considered rare and most babies are given a clean bill of health, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development.

 

THE NEWBORN SCREENING PROGRAM TESTS YOUR BABY FOR THESE CONDITIONS:

1) Congenital adrenal hyperplasia (CAH)--Certain hormones cannot be made by the body due to a genetic defect. Babies may develop vomiting and severe dehydration which may be life threatening. If left untreated, CAH may result in death in the newborn. About 1 of every 14,000 Texas newborns has CAH.

2) Galactosemia--A milk sugar (galactose) cannot be broken down by the body due to an enzyme deficiency. A diet low in galactose prevents life-threatening complications. Occurs in about 1 of every 75,000 Texas newborns.

3) Hypothyroidism--Inadequate production of the hormone thyroxine, if left untreated, can lead to mental and growth retardation. Hypothyroidism is treated by giving thyroxine tablets. Occurs in about 1 of every 3,000 texas newborns.

4) Phenylketonurial (PKU)--A componenet of food protein cannot be broken down by the body due to a genetic defect. Brain damage may be prevented by a special diet low in phenylalanine. Occurs in about 1 of every 25,000 Texas newborns.

5) Sickle Cell Anemia--Red blood cells become sickle shaped because of a lack of oxygen and can clog blood vessels and cause severe pain at certain times. Infections occur more easily and must be controlled with antibiotics. Occurs in about 1 of every 350 African American Texas newborns, but also occurs in other races.

--WHY IS MY BABY TESTED?   Newborn Screening is one of the most important things done for your new baby's health. We test all newborns because a few who look healthy have a rare birth defect or disorder.

--HOW IS MY BABY TESTED?  Two screens are required. The tests are done using drops of blood taken from your baby's heel 1 to 2 days after birth in the hospital and again at 7 to 14 days of age in your doctor's office or clinic.

--BUT WE'VE NEVER HAD ANY BIRTH DEFECTS IN OUR FAMILY... Many of the babies born with these problems are from healthy families.

--MY BABY SEEMS FINE. ARE THE TESTS STILL NEEDED?  Yes. Most babies with these disorders look healthy at birth. Many disorders can't be seen.

--IF MY BABY HAS ONE OF THESE DISORDERS, CAN IT BE CURED?  We can't cure these conditions. But early treatment may prevent or control serious health problems.

--IF MORE TESTING MUST BE DONE, DOES THAT MEAN THAT MY BABY HAS A PROBLEM? No. An abnormal newborn screen only shows the need for more testing. This does NOT mean there is anything wrong. It just means your baby needs to be tested again to double-check for possible problems.