Who should be screened?

Your baby and every baby born in Iowa.

Why should my baby be screened? 

To help assure that your baby will be as healthy as possible. A simple blood test provides important information about your baby's health that you or even your doctor might not otherwise know. The Iowa Neonatal Metabolic Screening Program identifies infants who may have one of the more than 30 the disorders screened for in this program. With early diagnosis and medical treatment, complications from serious conditions, such as mental retardation or even death, can usually be prevented.

When will my baby be screened?

Before you take your baby home from the hospital or in the first 24 to 48 hours of life, whichever comes first.

How is my baby screened?

With a tiny amount of blood from your baby's heel and placed on a special filter paper.

Where is the screening done?

After the blood sample is taken in the hospital it is taken by courier and tested at the state-approved Central Screening Laboratory (University Hygienic Laboratory) in Ankeny.

What disorders are screened by the Iowa Neonatal Metabolic Screening Program?

All of the disorders that are recommended by the American College of Medical Genetics and approved by the American Academy of Pediatrics. Some are life-threatening. Others when untreated can slow down physical development or cause mental retardation or other problems.

What are some disorders that my baby will be screened for?

• Hypothyroidism (HY-po-THY-royd-ism)
  This endocrine disorder is the most common disorder identified by screening and occurs in about 1 of every 5,000 newborns.Thyroid hormones are vital for normal brain development and proper functioning of all body organs. Treatment is available by giving the baby the missing hormone.
• Congenital Adrenal Hyperplasia (CAH)
  Congenital Adrenal Hyperplasia is an endocrine disorder that is due to a chemical (enzyme) deficiency that prevents the body from making a stress hormone (cortisol) and in some cases a salt retaining hormone (aldosterone) and increases the production of a male hormone (androgen). Babies may develop vomiting and severe dehydration which can be life-threatening. These problems can be prevented by proper treatment. This disorder occurs in about 1 of every 14,000 newborns.
• Cystic Fibrosis
  Cystic fibrosis is one of the most common inherited (genetic) diseases, affecting 30,000 children and adults in the US.  It causes several parts of the body, such as the lungs and digestive system, to produce thick mucus, leading to chronic lung infection, diarrhea, and poor growth.  Diagnosis of cystic fibrosis before symptoms are present has been shown to be highly beneficial for the child.
• Hemoglobinopathies (HE-mo-GLO-bin-OP-ah-thes)
  Hemoglobin is the protein in the red blood cells which gives them their red color. Hemoglobin carries oxygen from the lungs to the rest of the body.  Hemoglobinopathies are diseases that affect the kind of hemoglobin or the amount of hemoglobin in red blood cells. Some hemoglobinopathies can cause anemia.
• Sickle Cell Anemia
  It is one of the most common hemoglobinopathies. It causes misshaped (sickle) red blood cells. These misshaped red blood cells can clog small vessels so not enough oxygen can be carried to the body. Good medical care, parent education, and antibiotics can minimize life-threatening complications. These problems are most common in the baby's first year of life, which is why we screen newborns for the disease. In the African-American population, sickle cell anemia occurs in about 1 out of 450 newborns.
• Galactosemia (ga-LAK-toe-see-me-a)
  A milk sugar (galactose) cannot be broken down by the body because of the lack of an enzyme. A diet low in galactose can prevent life-threatening complications. Classic Galactosemia (absence of the GALT enzyme) is rare, occurring in 1 in 70,000 live births. Variants of galactosemia, with reduced GALT activity, are more frequent and occur in 1 in 16,000 live births.
• Phenylketonuria (FEN-nil-Kee-tone-u-ree-ah)
  Phenylketonuria is also called PKU. This disorder occurs when a component of food protein (phenylalanine) cannot be broken down by the baby due to lack of an enzyme. Brain damage and mental retardation which would usually result, can be prevented by a special diet low in phenylalanine. PKU occurs in about 1 of every 10,000 to 15,000 births..
• Biotinidase Deficiency
  Biotinidase is a disorder in which the body cannot recycle the vitamin Biotin properly and babies become deficient in this vitamin. Biotin aids in the metabolism of fats, carbohydrates and protein. This disorder occurs in approximately 1 in every 60,000 births.
• Fatty Acid Oxidation Disorders
  Infants with fatty acid oxidation disorders are unable to break down fats into energy because of specific enzyme deficiencies essential to their meatbolism. Normally, fat is broken down into energy by enzymes. This energy keeps the body running whenever it runs outs of its main source of energy, which is glucose. It is crucial that individuals with these disorders do not have prolonged fasting. Prolonged fasting can lead to life threatening hypoglycemia. It is estimated that 1 to 2 per 100 "SIDS" cases are the result of an undiagnosed fatty acid oxidation disorder
• Amino Acid Disorders
  Amino acid disorders occur when there is a deficiency in one of several pathways or cycles involved in protein metabolism. For amino acid disorders, early treatment allows for the prevention of brain damage, mental retardation, coma, seizures, autistic-like disorders, and even death.
• Organic Acid Disorders
  Organic acid disorders occur because of alterations in pathways of metabolism for amino acids, carbohydrates, and fatty acids. Babies with an organic acid disorder cannot remove certain waste products from their blood. Newborn detection of the disorders and early treatment allows for prevention of symptoms, which include neonatal hypotonia, respiratory acidemia, respiratory acidosis, muscle atrophy, seizures, developmental delays, coma, and death.

The doctor said my baby was healthy so is this screen necessary?

Yes.  In each of these disorders there is an "invisible" problem in one of the many chemicals which are produced naturally in the baby's body. With special laboratory tests, the Newborn Screening Program can identify who may have one of the disorders and can alert the doctor to the need for special care of the baby. Usually this can be done before the problem has time to cause damaging effects.

If my baby has one of those disorders, can it be cured?

The disorder cannot be "cured," just as eye color or height can't be permanently changed. But the disorder can be treated and the serious effects can be lessened - and often completely prevented - if a special diet or other medical treatment is started early.

Will I be told the results of the newborn screen?

Your doctor or clinic will be informed when the screen is completed. Generally parents are notified by the doctor or clinic only if there is a problem, but you can ask about the results when you take your baby to the doctor for a regular check-up. Remember if your baby is free of these disorders, there may be other medical problems that cannot be screened by these methods. It is very important for your baby to have regular check-ups and good general medical care.

What if my doctor requests a repeat screen?

If your doctor asks you to bring your baby in for a repeat screen, do so as soon as possible! If your baby does have a disorder, prompt action can be very important.

If you don't have a telephone, it will be helpful to leave the phone number of a friend, relative or neighbor with the doctor. You can also help by notifying your doctor immediately if you move soon after the baby is born. Then if your baby should need a repeat screen your doctor will know where to reach you. Remember, time is of great importance.

If a repeat screen is necessary, does that mean that my baby has one of these birth defects?

Not necessarily. Repeat screening may be required for a number of reasons. The most frequent reason is that the first sample contained too little blood to allow for completion of all tests. This does not mean there is anything wrong with the baby. It simply means that another sample must be obtained so that the complete set of tests can be performed.

When the first screen indicates a possible problem, the results are not considered final. Instead, a new blood sample is requested, and the screen is repeated. As a general rule, only when a baby's test is unusual for a second time will the doctor discuss the need for further evaluation. Only on very rare occasions, because of the potential severity of a particular disorder, will the doctor insist on treating the child immediately while waiting for the results of a repeat screen or other special blood tests.

If you are asked for your baby to have a repeat screen or other special bloodwork, please act quickly, so the final results can be obtained while the baby is still very young. If needed, it is very important that treatment be started as quickly as possible.

If my baby has a disorder, will future children have it also?

This is possible in many cases. Families may obtain information about their future risks from trained professionals with the Iowa Neonatal Metabolic Screening Program (INMSP) or the Iowa Regional Genetic Counseling Service. If you want more information about counseling services, ask your doctor or call 515/281-6466 (IDPH), or 319/356-1400 (INMSP).

As a parent, you can help to assure the health of the new generation by your cooperation with the Iowa Neonatal Metabolic Screening Program.

Where do I call should I have further questions?

First, talk to your baby’s doctor or healthcare provider. Other sources of information include:

Center for Congenital and Inherited Disorders
Iowa Department of Public Health
Lucas State Office Building
Des Moines, IA 50319
1-800-383-3826

Iowa Neonatal Metabolic Screening Program
Center for Development and Disabilities, RM 267S
Iowa City, IA  52242
319-384-5097 or 866-890-5965

Division of Medical Genetics
The University of Iowa Children’s Hospital
Iowa City, IA 52242
319-356-2674