What Conditions are Screened For in Colorado?
Amino Acid Disorders
Argininemia (ARG)State preferred name: Arginase deficiency
- State preferred name: Argininosuccinic acidemia
Citrullinemia, Type I (CIT)State preferred name: Citrullinemia
Citrullinemia, Type II (CIT II)
Classic Phenylketonuria (PKU)
Maple Syrup Urine Disease (MSUD)
Tyrosinemia, Type I (TYR I)
Tyrosinemia, Type II (TYR II)
Tyrosinemia, Type III (TYR III)
Fatty Acid Oxidation Disorders
- State preferred name: Carnitine palmitoyltransferase deficiency- type IA
- State preferred name: Carnitine palmyitoyl transferase II deficiency
Carnitine Uptake Defect (CUD)
Glutaric Acidemia, Type II (GA-2)
Organic Acid Conditions
About Newborn Screening in Colorado
The Colorado Department of Public Health and Environment (CDPHE) wants to help your baby get a healthy start. Shortly after your baby is born, your baby’s blood will be tested to detect rare but serious health disorders. Newborn babies who have these disorders look healthy, but babies with some of these disorders will get very sick or die just a few days or weeks after they are born. Complications differ based on the particular disorder, but if untreated, these disorders may cause physical or intellectual disability, as well as reduce life expectancy. The newborn screening test helps find babies with these disorders early, so they can get medical treatment before they get sick. If these disorders are found early and affected babies receive prompt treatment, the serious problems caused by these disorders can be prevented or reduced. With early and proper treatment, most infants with these conditions can grow and develop normally and live healthy lives.
Under Colorado statute, all babies born in Colorado are required to be tested twice unless a child’s parents or legal guardians refuse testing on behalf of the child. To perform newborn screening, a few drops of blood are taken from your baby’s heel and put on a special paper. The state public health laboratory performs the testing. In nearly all circumstances, insurance or Medicaid pays for the testing, or parents can self-pay if they do not have insurance or Medicaid.
The state public health laboratory will send the results of a child’s first screen to the submitter of the sample, typically a birthing facility or midwife’s practice. Under the rules of the newborn screening program, the recipient of the results of the first screen is responsible for automatically forwarding a copy of the report to your child’s primary care provider, so long as the forwarding information was provided at the time the sample was collected. If your baby’s test results are all within range, your baby’s primary care provider will tell you the results of your baby’s newborn screening test. Typically, it takes about one week for your baby’s primary care provider to receive the results.
Many healthy babies have newborn screening results that fall outside the expected range. An out-of-range newborn screening test does not mean your baby has a disease. Rather, it means more testing is needed to rule in or out specific conditions associated with out-of-range results. In Colorado, the state contracts with healthcare specialists for each condition on the screening panel. When a test result suggests concern for your child’s health, the state will contact an appropriate specialist who will guide you, your child, and your child’s pediatrician through the process of further testing. Our contracts require specialists to respond within 24 hours of being contacted by the State Laboratory, so you know your child will have expert guidance and care at your moment of need regardless of day of week or time of year. Moreover, as contractors for the state, these healthcare specialists serve as our agents, and they are bound by the same confidentiality restrictions upheld by the state. Many of the disorders included on the CO NBS panel require treatment to begin as soon as possible. CDPHE believes CO’s model of connecting children, families and PCPs directly to healthcare specialists is the fastest way to deliver appropriate care to a potentially affected child.
Infants change rapidly during the first weeks of life. To increase the likelihood of identifying disorders, your child’s blood will be tested twice. Your newborn’s first screening sample should be collected between 24 and 48 hours following delivery. The second newborn screening sample should be collected when the child is between 8 and 14 days old, even if the results from the first NBS sample were normal. The second newborn screening test is for your baby’s safety.
As expecting parents, there are many things you can do to make sure you, your baby and your baby’s primary care provider are prepared for this important testing.
- Most importantly, before your baby is born, identify a primary care provider.
- When NBS samples are collected from your baby, be sure that the healthcare professional collecting your child’s blood completes all fields on the form accompanying the sample collection card, including the name of your child’s primary care provider and a phone number for the child’s mother, before they begin collecting your child’s blood. Ask to review the content of the demographic slip accompanying the card before any blood is collected.
- When your baby is one to two weeks old, your baby should see a doctor for a “well-child check-up.” At that check-up, ask your child’s primary care provider for the results of your baby’s first newborn screening test. A baby’s first newborn screening test is usually sent to the lab under the mother’s last name. If your baby might be known by more than one last name by the time a second NBS sample is collected, include both names on the demographic slip for the second test, so the lab will know both tests are for the same baby. Be sure your child’s primary care provider has correct contact information for you. Check back with your child’s primary care provider for the results of your baby’s second newborn screening test.
How is Newborn Screening Paid for in Colorado?
The cost of the screening is $111.00, which covers the first and second screen. The fee is subject to change and is typically covered by insurance and Medicaid.
Policies and Resources
Parents have the right to refuse screening if it conflicts with their religious or personal beliefs.
Support for families:
Health Care Program for Children with Special Needs (HCP)
Families often need help understanding what services are available to assist them. The Health Care Program for Children with Special Needs (HCP) is a resource for families, health care providers, and communities. The program’s goal is to help improve the health and well being of Colorado’s children with special health care needs and their families. There are 17 HCP regional offices located throughout the state linking families with providers, services and supports within their local communities. For more information, call 303-692-2370, or visit the HCP website.
The Family Healthline 1-800-688-7777
The Family Healthline is a statewide telephone information and referral service (English and Spanish) that provides callers with the eligibility criteria and resources for Colorado health care programs that provide services to pregnant women, children and individuals. Resources include indigent medical care, vision, dental, mental health care programs and nutrition programs. Information is also available about services for emergency shelters, domestic violence counseling, victim assistance programs, legal aid, housing assistance, abstinence education, family planning and other services as needed.
Metabolic Formulas and Foods
Children diagnosed with some of the diseases that we screen for will require certain “special metabolic formulas and foods” as part of their treatment.
If your child has private insurance, Colorado’s laws require insurance companies to cover medical formulas and foods for certain conditions found through newborn screening. Your insurance plan must have prescription coverage and deductibles and co-pays may apply.
Customer Service (English and Spanish) (303) 866-3513); email: [email protected]
Contact Colorado Medicaid for information on coverage of metabolic formulas and foods.
Child Health Plan Plus (CHP+)
Child Health Plan Plus (CHP+) is low-cost public health insurance for Colorado's uninsured children and pregnant women who earn too much to qualify for Medicaid, but cannot afford private health insurance.
Contact CHP+ for information on coverage of metabolic formulas and foods.
Customer Service: (800) 359-1991; (Colorado Medical Assistance Programs - follow the prompts to reach CHP+) http://www.cchp.org
WIC (Women, Infants, and Children) Nutrition Program
WIC provides supplemental foods, health care referrals, and nutrition education for low-income pregnant, breastfeeding, and non-breastfeeding postpartum women, and to infants and children up to age five. WIC covers some metabolic formulas. To find your local Colorado WIC provider, call The Family Healthline (English and Spanish) at 1-800-688-7777.
Storage and Use of Dried Blood Spots:
After the newborn screening is completed, some dried blood will remain on the screening test cards. These are called “residual dried blood spots.” The residual dried blood spots are stored at the lab for 6 months for the purpose of retesting the blood, if necessary. Your newborn’s identifying information will never be used for anything other than therapeutic purposes and will never be used to deny group disability or long-term care insurance or any other nontherapeutic purpose. Following the six-month storage period, the blood spots on the test cards are separated from the infant's identifying information and the spots are made unusable through a process called autoclaving. Your child’s information, including the identifying information from the test card and any test results, is stored by the state for five years.
During the six months that the infant’s blood spot card is stored, parents may request their infant's newborn screening card to be released to them by submitting a letter to CDPHE’s laboratory requesting it. Parents may then pick up their infant's newborn screening card from the lab by showing valid identification at the time of the release. If parents want to store their child’s residual dried blood spot for a longer period of time for any reason, they may request to have it returned and then pay for it to be stored at a private laboratory.