Pre-Diagnosis Resources

Congratulations on the birth of your baby. The Connecticut Newborn Screening Network understands that learning your child’s newborn screen flagged for more testing can feel scary and overwhelming. Other families have told us they wish they had access to some more information on newborn screening and other resources.

Below is some information about newborn screening and the resources that other families have found useful. Hyperlinks are included if you want to learn more. We have included resources for learning more about newborn screening, connecting with other families who have similar medical experiences, speaking with a genetic counselor, Birth to Three, and Care Coordination that can help families with many resources from health insurance, housing, medical transportation, food, etc.
 

Key Takeaways

  • You have just heard that your baby’s newborn screen flagged for more testing. Please understand that the newborn screening is just that—a screening test. Further testing is required to confirm or rule out the diagnosis.
  • Most babies who have out of range newborn screens do not actually have a condition, or have a very mild form that requires no treatment.
  • When diagnosed early, children with most conditions found through newborn screening can have healthy growth and development.
     

What is newborn screening?

Newborn screening is a screening test used to learn which babies would benefit from more testing for a medical condition If a baby’s results are “out of range,” this cues the doctor to order additional testing. This additional testing (called diagnostic testing) is used to confirm or rule out a diagnosis. If a condition is diagnosed, then your healthcare team can talk about the condition and any needed treatment.

There are three parts to newborn screening in Connecticut.

  1. Hearing screen.
  2. Heart defect screen. This is done using a machine called a pulse oximeter, with sensors placed on the baby’s skin. This machine estimates the amount of oxygen in a baby’s blood. If levels of oxygen are low, this could suggest a heart defect.
  3. Blood spot screening: Blood from a heel prick is put onto a special kind of paper (called filter paper) and sent to the state newborn screen laboratory and also to the cystic fibrosis laboratory to screen for close to 70 disorders. The blood sample is taken soon after birth to check for conditions that do not show symptoms right away and would benefit from early diagnosis and treatment.

The Connecticut Newborn Screening Network (called ‘the Network’ for short) works with families who’s baby had a blood spot newborn screen that flagged for more testing. The below information on newborn screening refers to the blood spot screening.

Title card from video that reads "Newborn Screening PATH CT"

Frequently Asked Questions

When a newborn screen flags for follow-up testing, it does not necessarily mean that your baby will be diagnosed with a medical condition. An out of range result might happen if:

  1. The sample was too small
  2. The sample was collected too early
  3. The sample was collected too close to a feeding
  4. The baby was born too early (preterm delivery)
  5. The baby had a low birth weight

Most babies who have follow up testing are healthy, and will not have a medical condition diagnosed. However, out of range newborn screening results CAN indicate a disorder, so it is important to follow your doctor’s advice and to get your baby tested with the recommended diagnostic testing quickly. This way treatment can be started quickly, when needed.

Connecticut screens for close to 70 disorders. They are grouped by healthcare specialty here:

  1. Hemoglobin disorders: These are conditions that affect how blood cells, called hemoglobin, work. Examples include: sickle cell disease and hemoglobin S,C disease.
  2. Immunology disorders: These are disorders that can affect how a person’s immune system works. Our immune system helps us to fight off infections from bacteria or viruses.
  3. Endocrine disorders: Endocrine disorder can affect how the body makes hormones that help regulate many different functions in the body. Connecticut screens for two endocrine disorders: 1) hypothyroidism and 2) congenital adrenal hyperplasia (CAH)
  4. Metabolic disorders: These disorders can affect how the body uses food for energy (metabolism). Metabolism involves many different types of chemical reactions, and based on the disorder could affect how the body uses sugars/carbohydrates, or fats, or proteins.  Symptoms and treatments vary based on the specific disorder diagnosed. There are many different metabolic disorders screened for in Connecticut. Some examples are: phenylketonuria (PKU), Carnitine Uptake Defect (CUD), and galactosemia (GALT).
  5. Other inherited disorders: There are also some other inherited disorders on the Connecticut newborn screen. Some examples are Adrenoleukodystrophy (ALD) and Spinal Muscular Atrophy (SMA).

For a full list of the medical conditions that are screened for in Connecticut, you can visit the Baby’s First Test website. The conditions listed there are linked to another page on the Baby’s First Test website that has good overview information on the specific disorder.

Your baby’s doctor may ask for the newborn screen (heel stick) to be repeated or for your baby to have more testing (blood and/or urine tests). You will want to have these follow up tests done as soon as possible. In some cases, you may be asked to visit a specialist and/or dietician.

  • Having your baby’s blood drawn can understandably be intimidating. Unlike older people, babies cannot anticipate pain, so there is no anxiety on their part. You can help by bringing a pacifier (if you use one) and a swaddle blanket for comfort during the procedure.
  • Keep your baby hydrated, starting the day before the draw. Dehydration makes veins harder to find.
  • Make sure your baby is relaxed and stress-free. Play soothing music on the way to the office and give yourself plenty of time to make the appointment. There is usually a wait in many of these labs. A baby will pick up the signals from a stressed-out parent. Stress increases the blood flow and constricts the veins.
  • During the blood draw, soothe your baby. Place your baby in a safe, comfortable position, face-up, either on a draw table or your lap. Leave baby as swaddled as possible for comfort. Talk to your baby or sing a familiar song.
  • Please note that blood tests can take about two weeks to result, and urine tests can take up to three weeks. The Network will be looking for your baby’s results daily. As soon as results are available, the Network will review results with the specialty healthcare team.

If the follow-up tests are within normal limits, your baby’s case will likely be “closed” and there will be no further action needed. If the results are out of range, the Network will help to coordinate a visit with a healthcare specialist.

It is sometimes necessary to get a urine sample from a baby. Sometimes, urine is collected in your health care provider's office. Other times, urine can be collected at home.

To collect a urine sample from an infant:

Thoroughly wash the area around the urethra (the hole where urine flows out). If provided, use the cleansing wipes that your provider gave you.

You will be given a special bag to collect the urine. It will be a plastic bag with a sticky strip on one end, made to fit over your baby's genital area. Open this bag and place it on the infant.

  • For males, place the entire penis in the bag and attach the adhesive to the skin.
  • For females, place the bag over the two folds of skin on either side of the vagina and urethra (labia).
  • It may be helpful to put cotton balls or gauze pads around the bag to collect any urine that leaks out. Because the sample only needs to be clean (not sterile), you can squeeze the urine out of the cotton balls into the cup.

Put a diaper on the baby (over the bag).

Check the infant often, and change the bag after the infant has urinated.

An active infant can cause the bag to move, so it may take more than one try to collect the sample.

Empty the urine from the bag into the container provided by your provider. Do not touch the inside of the cup or lid. If at home, place the container in a plastic bag in the refrigerator until you return it to your provider.

When finished, label the container with your child’s name and date of birth. Then return it as instructed. It is important to bring the urine sample to the lab as soon as possible. It is important that the urine sample be stored at the proper temperature in a lab fridge, and not in room air or a home fridge.

For some of the testing, the blood draw and the urine sample need to be collected within 24 hours of each other to help understand the results.

Some babies with metabolic disorders never have serious signs or symptoms. Sometimes signs and symptoms may not happen until later in life. Each disorder has different signs and symptoms. In general, we recommend calling the baby’s doctor if you notice changes from typical behavior, such as: lethargy (being very tired/unable to wake the baby), new fussiness, not eating well, having trouble gaining weight, diarrhea, vomiting or infection.

Additional Resources

The Newborn Screening Network can help to review your baby’s newborn screening results, connect you with doctors and specialists for diagnostic testing, answer questions you may have about your baby’s newborn screening results, and help you find resources in your area. The Network helps families with questions and concerns while follow up testing is being done after the initial newborn screen report, often called pre-diagnosis. If your baby does go on to receive a diagnosis, Network staff will check in at regular intervals after diagnosis to see how your family is doing and if you could benefit from any additional supports. The Network can be reached by phone 860.837.7870 or CNDTN [at] connecticutchildrens.org (email).

The Connecticut Newborn Screening Program (CT NBS) is a public health program that screens all babies born in the state for many serious but treatable metabolic and genetic disorders. Your baby’s newborn screening blood spot card was likely tested here. Learn more about the CT NBS and newborn screening in Connecticut.

The Newborn Screening Network is part of Connecticut Children's Office for Community Child Health. Through the work of the Office for Community Child Health, Connecticut Children’s works to build stronger child-serving systems and bridge gaps in medical care and community services for children and their families. The Office for Community Child Health has a wide variety of programs that promote optimal child health, development and well-being.

Genetic counselors can work with you and your physician to understand complex genetic information. They can help explain the genetics of a disorder, learn if genetic testing might be right for you or other family members, and help to explain results. The Connecticut Newborn Screening Network has a genetic counselor on staff, who is available to work with families. Learn more and schedule a free session. 

The Connecticut Children’s Center for Care Coordination addresses the medical, social, developmental, behavioral, educational and financial needs of families to achieve healthy development for children. This can include help with insurance, food, diapers, housing, transportation and other support. You can learn more about the Center for Care Coordination here.

Baby’s First Test is a website that provides education about newborn screening. This site provides information and resources about screening at the local, state, and national levels. This is a resource dedicated to educating parents, health professionals, and the public about the newborn screening system. This site also provides many ways for people to connect and share their viewpoints and questions about newborn screening.

The Newborn Screening Family Education Program is dedicated to developing opportunities for all families to learn about newborn screening and to creating educational and training resources that build confidence in families to become leaders in the newborn screening system.