What Conditions are Screened For in Kentucky?
Amino Acid Disorders
Benign Hyperphenylalaninemia (H-PHE)
Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
Citrullinemia, Type II (CIT II)
Classic Phenylketonuria (PKU)
Maple Syrup Urine Disease (MSUD)
Tyrosinemia, Type II (TYR II)
Tyrosinemia, Type III (TYR III)
Fatty Acid Oxidation Disorders
Organic Acid Conditions
About Newborn Screening in Kentucky
Kentucky's Newborn Screening Program helps parents find out if a baby has certain health problems which may not have obvious symptoms at birth. A healthy-looking newborn can have any number of serious conditions that cannot be detected without specific screening. If left undetected and untreated, these conditions can lead to slow growth, blindness, brain damage or even death. Early intervention and treatment can help prevent these serious problems and if treatment begins early enough, the newborn has an increased chance at living a full, healthy life.
For parents, it is important to make sure your infant has a blood specimen drawn before he or she leaves the hospital. If your infant was born at home, make sure your midwife, physician or health department conducts the screenings. It is very important to make sure your doctor has accurate contact information including your current phone number and address so laboratory results can be communicated as quickly as possible. Since many conditions can cause damage within days of birth, getting your child timely treatment will drastically improve your child’s chances of living a life with fewer complications.
An abnormal test means your baby may have one of the health problems tested for in this screening. A negative test means that your baby probably does not have any of these problems. Because this test is a screening and not a diagnostic test, there is a small chance of a false negative or false positive result. Your baby's doctor may want to repeat the test or do other testing to further verify screening results. Act quickly if your doctor contacts you about repeat tests or the need for a medical evaluation.
If your child's newborn screen is confirmed as positive, your doctor will talk with you about the next steps to take. You may be referred to a specialist for more testing and genetic counseling. If your baby is then diagnosed with a condition, treatment will begin to prevent or minimize health repercussions.
Rarely, the Newborn Screening Program does not receive notification of your baby's repeated results. This usually happens when a baby has a different primary care physician than the one who did the initial screening at the hospital. In this case, parents will receive a letter from the Newborn Screening Program letting them know their baby needs the repeat newborn screening test. If you get a letter asking you to repeat your baby's newborn screening test, first, contact your baby's primary care physician. The repeat screening test is performed at no charge by the baby's current primary care physician or local health department. When you go for the repeat screening, be sure to take the letter from the Newborn Screening Program with you and give it to the physician. This way the physician will know what is needed and how to send the results in to the state.
How is Newborn Screening Paid for in Kentucky ?
The NBS Fee is $123 for the initial newborn screen. The cost is the responsibility of the child’s responsible party. Kentucky law mandates health insurance coverage of every newborn if the mother is under their coverage at the time of birth. In most cases the newborn screening fee is part of the newborn stay in the hospital and not billed separately. Please note that insurance companies that are headquartered outside of Kentucky or those who are self-insured are not bound by Kentucky Insurance Law. The state does not charge the individual but rather the healthcare provider who submits the specimen. There is no charge for a screen that has to be repeated. The state does not cover the test if the patient does not have insurance. The test is “self-pay” in those cases and families should contact their healthcare provider to determine the fee.
Policies and Resources
All newborns must participate in the newborn screening program unless the parent or guardian objects on religious grounds. This objection must be in writing. Kentucky newborn screening statutes or regulations contain no other specific provisions with respect to confidentiality and privacy regarding newborn screening information and samples, consent or the right to refuse screening, or the use of samples.
Support for families:
One of the concerns of families who find out that their child has a condition detected by newborn screening is the increased cost of health care. Fortunately, Kentucky has both programs and regulations which both help families obtain affordable care and treatment for their children with a metabolic condition.
If the newborn is covered by a private health insurance policy, Kentucky requires various types of policies to cover certain treatments related to the metabolic conditions detected during newborn screening. A health benefit plan that provides coverage for a newly born child must include the necessary care and treatment of medically diagnosed inherited metabolic diseases. A health benefit plan that provides prescription drug coverage must provide that coverage for amino acid modified preparations and low-protein modified food products prescribed and administered under the direction of a physician for the treatment of inherited metabolic diseases. Coverage under this subsection may be subject, for each plan year, to a cap of $25,000 for medical formulas and a separate cap for each plan year of $4,000 on low protein modified foods, subject to annual inflation adjustments. Contact your health insurance provider for further information.
If the newborn’s family receives their health care through Medicaid, the program will cover products for the treatment of inborn errors of metabolism or genetic conditions, consisting of therapeutic food, formulas, supplements, or low-protein modified food products that are medically indicated for therapeutic treatment and are administered under the direction of a physician. Also, The Commission for Children with Special Health Care Needs may be able to help. Eligible clients must be residents of Kentucky, be younger than 21 years old, and have a condition that is covered. In order to apply for services call (800) 232-1160 or e-mail your request and write which county you live in. Then a CCSHCN staff person will contact you. The commission provides services through a variety of specialty clinics held across the Commonwealth. These specialty clinics include: cerebral palsy, craniofacial, ear, hand, hemophilia- pediatric and adult, scoliosis, spina bifida, cystic fibrosis, heart and more.
The Commission for Children with Special Health Care Needs can provide the following types of services for children with physical special needs: on-site clinic visits at CCSHCN offices in 12 locations and at satellite clinics in physician offices and other settings as well as some medications. To determine if your child is eligible, please contact the state.
Storage and Use of Dried Blood Spots:
All specimens showing normal results are stored under cold conditions for 2 months and then destroyed via autoclave. All specimens showing abnormal results are stored under cold conditions and are used for QA and validation studies on new and current methodologies. Specimens are not released for research purposes.