Center for Congenital and Inherited Disorders

Iowa Neonatal Metabolic Screening Program

What is neonatal (newborn) metabolic screening?

Neonatal metabolic screening is a blood test for certain treatable metabolic and inherited disorders performed shortly after a baby's birth. Currently, Iowa law requires all newborns and infants born in the state of Iowa will be screened for the following:  

• Biotinidase
• Congenital adrenal hyperplasia
• Congenital hypothyroidism
• Cystic fibrosis
• Expanded Panel Disorders
• Galactosemia
• Hemoglobinopathies 

The Iowa Neonatal Metabolic Screening Program identifies babies who may have one of these disorders and alerts the baby's health care provider to the need for further testing and special care. With early diagnosis and treatment, complications from these serious disorders can usually be prevented.

How is my baby tested?

All of the tests are performed from a few drops of blood obtained by pricking the baby's heel at least 24 hours after birth or just before the baby is discharged from the hospital. The blood is collected on an absorbent paper collection form, which is then sent to the University Hygienic Laboratory.

Babies born outside of hospitals need to be tested as well, preferably 24 hours to 5 days after birth. Parents can arrange the screening with their health-care provider, local hospital, or public health nursing agency.

How do I receive the results?

Parents are usually not notified if the screen was in a normal range. Your licensed healthcare provider will be informed when the tests are completed and you may ask them about the results. Generally, parents are notified only if retesting or further testing is needed.

If your health care provider asks you to bring your baby in for retesting, do so as soon as possible. Retesting does not mean there is anything wrong with your baby. It simply means that another sample must be obtained so that the complete set of tests can be performed. Some reasons for retesting may include:

• Unsatisfactory specimens:  There was something wrong with the sample and it needs to be recollected.
• Early collection:  The sample was drawn before the baby was 24 hours old.
• Abnormal test result:  An abnormal test result means there "may" be a disorder present. Your doctor will work with you to determine if further evaluation is needed.

Many of these disorders cause irreversible damage in a short period of time, so if you are asked to retest your baby do so immediately.

Can I refuse the screening for my infant?

You may refuse testing. If you refuse, you must sign an Iowa Neonatal Metabolic Screening Program Waiver form and accept the legal responsibility for the consequences of this decision.

What is the cost of the screening?

The cost of newborn metabolic screening is $56. This fee is usually covered in your hospital bill from having your baby and will most likely be covered by your insurance company. There is no charge for a second sample if one needs to be drawn.

Who to contact for more information?

• Go on-line to submit a question. 
• Center for Congenital and Inherited Disorders Staff
• Your health-care provider

Where do I get more information?

• 641 Iowa Administrative Code, Chapter 4 - Center for Congenital and Inherited Disorders  
• American Academy of Pediatrics
• American Academy of Pediatrics Screening Fact Sheets
• Center for Disease Control and Prevention
• Family History Tools -- prenatal genetic screening questionnaire, adult history form, and pediatric clinical genetics questionnaire.
• Iowa Hemoglobinopathy Screening and Comprehensive Care Program Brochure  
• Iowa Neonatal Metabolic Screening Program Brochure  
• Iowa Newborn Screening Pilot Studies
• University Hygienic Laboratory

What is Newborn Metabolic Screening?

• Parents Guide to Newborn Screening