Frequently Asked Questions
The Connecticut Newborn Screening Panel
On a national level, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) makes recommendations to the Secretary of Health and Human Services on disorders to be included on the Recommended Uniform Screening Panel (RUSP).
The ACHDNC currently recommends a screening panel of 37 core and 26 secondary conditions. States use this panel to guide their screening initiatives. States are not required to screen for all RUSP conditions and decide which disorders to include on their newborn screening panel.
Core conditions are the conditions that newborn screening is specifically designed to identify. A "core condition" is added to the newborn screening panel if
- There is a specific and sensitive test available to detect it.
- The health outcomes of the condition are well understood.
- There is an available and effective treatment.
- Identification of the condition could affect the future reproductive decisions of the family.
Secondary conditions may be identified when looking for a core condition. A condition on the newborn screening panel is classified as a “secondary condition” if
- It is identified unintentionally when screening for one of the core conditions or
- As a consequence of confirmatory testing for an out-of-range result of a core condition
(Information on Core and Secondary Conditions adapted from Baby's First Test)
What Disorders does Connecticut Screen for?
The Connecticut Newborn Screening Program screens for 36 core RUSP conditions and may detect other secondary conditions in the process of screening for core conditions. Click on the name of the disorder category to see which conditions Connecticut screens for by category.
Endocrine Disorders
An endocrine disorder is a medical condition that can cause problems with hormones. Hormones are chemicals that help different parts of the body work. Hormone imbalances are caused by endocrine disorders. This is when the body does not respond to hormones or produces too much or too little of a hormone. This can also include glands or organs that do not work properly. Connecticut screens for two different endocrine disorders.
Amino Acid and Urea Cycle Disorders
Amino acid (AA) disorders can affect the body’s metabolism. They affect the way the body processes the protein found in foods that are used for growth, energy, and repair. This can include foods such as formula, breast milk, and meats. Without treatment, AA disorders can cause developmental delays, organ damage, breathing problems, seizures, and death. A special diet and medicine can help prevent these problems.
Fatty Acid Oxidation Disorders
Fatty Acid Oxidation (FAO) Disorders can affect the body’s metabolism. The body cannot break down fats to turn into energy. If fatty acids are not broken down, they can cause harm to important organs such as the heart and liver. If infants with these disorders go too long without eating, they can experience serious health problems. Treatment can include a special diet, frequent feedings, and medications.
Organic Acid Disorders
A group of conditions called organic acid disorders (OADs) lead to an inability to process proteins and fats as energy from food. These proteins and fats are called organic acids. People with organic acid disorders are unable to digest them. This can cause organic acids to build up in the body and become toxic. This can cause vomiting, poor feeding, low blood sugar, sleepiness, seizures, and death. A special diet and medicine can help prevent these problems.
Hemoglobin Disorders
Hemoglobin disorders are a group of conditions that are caused by abnormal hemoglobin. Hemoglobin is a protein found in red blood cells. Its' job is to carry oxygen to different parts of the body. These disorders are passed down through families. People with hemoglobin disorders may experience tiredness, pain, a lack of iron in their blood (anemia), and organ damage. Medicine and special medical care can help prevent these problems.
Other Disorders
There is not a specific disorder category that this group of conditions falls under. Please visit the "Other Disorders" page to view the disorders for this category.
Additional Screening
These screenings are completed at birthing facilities before babies go home. They are completed separately from blood spot screening. If your baby is born at home, ask your midwife about these tests.