Newborn Screening Basics
How is newborn screening done?
Each baby born in Indiana will have three (3) screens performed before the baby goes home from the hospital. Indiana allows parents to refuse one, two, or all three parts of newborn screening due to religious beliefs only. Any family who refuses screening for their baby must fill out and sign State Form 54102 or the Spanish version State Form 57106.
A Parent's Guide to Newborn Screening Video explains the basics about newborn screening, its purpose and what parents need to do if rescreening is necessary. This video was created by the March of Dimes.
Heel Stick / Bloodspot Screening - Before every baby goes home from the nursery, he or she has a small amount of blood taken from his or her heel. This is called the heel stick. The blood is collected on the newborn screening card and referred to as the dried blood spot (DBS) sample. The DBS sample that is collected is used to screen for over 50 rare genetic conditions. If anything concerning is found, the Newborn Screening Laboratory contacts the baby’s doctor. This is why it is important to know who your baby's doctor will be before you deliver your baby.
Heel stick screening is a quick and simple method of obtaining a sample of a newborn's blood. This blood, called the bloodspots, is sent to the newborn screening laboratory where it is then analyzed for over 50 rare, life-threatening genetic conditions.
CCHD screening is a quick, non-invasive, gentle test that measures how much oxygen a baby has in his or her blood. CCHD screening is used as part of newborn screening to determine how healthy a baby’s heart & lungs are.
Babies who have low oxygen levels, less than 95%, may need to be evaluated for critical congenital heart disease (CCHD), sepsis, respiratory problems, or other conditions detrimental to the baby's health.
Critical congenital heart disease (also called CCHD) is a broad term that refers to several different heart defects. A heart defect occurs when a baby's heart does not develop correctly. Seven (7) different CCHDs can be detected by pulse oximetry screening. A baby born with one of these heart defects often has a low amount of oxygen in their blood. All of these heart defects require treatment, often involving surgery, to correct them soon after birth. If a baby has CCHD and does not receive treatment shortly after birth, the baby has a higher chance of developing serious health outcomes, including death.
It is important for parents to know that CCHD screening cannot identify every child with CCHD. Most babies who pass the pulse oximetry screen will not have CCHD. However, parents should know the signs of CCHD: blue color to the skin, fingernails or lips, fast breathing and/or poor feeding or weight gain. If you notice any of these signs, please contact your baby's doctor.
Hearing Screening - All babies also receive a hearing screen to identify possible hearing loss. This is called the Universal Newborn Hearing Screening (UNHS). For more information about UNHS or hearing loss, please click here. Simple tests can be used to screen a baby’s hearing immediately after birth. All babies can and should have their hearing screened before they leave the hospital (or before they are one month of age). It is important to find hearing loss early, so the baby has the best chance possible to learn to communicate.
By including hearing screening in Indiana’s newborn screen, infants with hearing loss can be identified before 3 months of age and obtain early intervention services by 6 months of age. Each year in the US, approximately 2-3 out of every 1,000 children are born with permanent hearing loss. Without newborn hearing screening, most of these children would not be identified with hearing loss during infancy.
The hearing screening portion of newborn screening is managed and followed-up by the Early Hearing Detection and Intervention (EHDI) program. Visit the EHDI program website for more information about hearing screening.
Frequently Asked Questions
Q: Will the newborn screening heel stick hurt my baby?
A: Babies may experience some brief discomfort when being pricked on the heel, but it heals quickly and leaves no scar. The following suggestions may help make the screening experience more comfortable for you and your baby:
- Breastfeed the baby during the heel stick.
- Hold the baby during heel stick.
- Make sure the baby is warm and comfortable during the heel stick.
Q: My nurse said my baby needed a PKU test. Is a PKU test the same as newborn screening?
A: Yes. Some health professionals will use the term PKU test as a synonym for newborn screening. However, the term "PKU test" can be misleading. Every state screens for phenylketonuria (PKU), a rare metabolic disorder, but they also screen for many other conditions. Indiana screens for over 50 conditions including PKU.
Q: What happens to the blood that is collected from my baby during heel stick screening?
A: The dried blood spot (DBS) is collected from the heel stick and is transported to the state-contracted NBS Laboratory where it is. A portion of the DBS is punched out and run through multiple laboratory machines to screen for the specific group of conditions listed on the Indiana Newborn Screening Panel. Indiana’s newborn screening law allows for the remaining portion of the DBS to be made available for de-identified medical research purposes such as calibrating the newborn screening lab's equipment. Important information on what may cause a disease or impact an individual’s health can be learned through the use of the DBS in medical research.
IDOH requires written consent from parents or guardians of newborns to opt in or out of storage of the DBS. The parent or guardian must select their intent to opt in or out of storage, and sign the consent card, to indicate whether they are opting in or out of DBS storage.
Cards for any child born before June 1, 2013, have not been made available for medical research and will be destroyed in a secure manner. Other cards have been destroyed on a schedule in accordance with the three (3) year retention policy.
- If a parent consents to storage of their newborn's DBS, the DBS is stored and made available for de-identified medical research purposes for a period of three (3) years only, and then destroyed. All DBS that are stored will remain de-identified, which means no identifiable information will ever be released.
- If a parent does not consent to storage of their newborn's DBS, the DBS is kept for six (6) months to ensure additional screening for the infant is not necessary, and then the DBS is destroyed.
- If a parent who previously consented to storage of the DBS would like to have the DBS destroyed, they may complete and send State Form 55650 any time within the DBS storage period, which spans three (3) years from the date the DBS was collected, which is usually a day or two after the birth of the child.
- If a parent who previously did not consent to storage of the DBS would now like to have the DBS stored, they must complete and send State Form 55651 within six (6) months from the time the DBS was collected, which is usually a day or two after the birth of the child. Otherwise, if the parent does not enter this request prior to the six (6) months, the DBS will have already been destroyed.
If you have any questions regarding the status of your child’s DBS, please do not hesitate to contact the Indiana Genomics and Newborn Screening Program.
Page last revised 1/25/2022 by DWard