Since discovering that some disorders begin before or at birth, the medical community has looked for ways to save lives and improve quality of life with early detection and treatment options. These disorders are called congenital conditions (CCs), and include a range of physical, chromosomal, and metabolic abnormalities such as heart defects, Down syndrome, or hypercholesterolemia. CCs can be caused by one or more factors, including genetic, infectious, nutritional or environmental influences, making it challenging to identify the exact cause.

For many CCs, early treatments can prevent severe disability or death. However, symptoms often come to the attention of parents and healthcare providers after damage has already occurred. In the United States, newborn screening (NBS) programs play an important role in detecting abnormalities early and ensuring infants receive the care they need.

How NBS programs work

Currently, all 50 US states, the District of Columbia, Puerto Rico, and Guam have NBS programs that collectively screen nearly all babies born in the United States for a panel of CCs. Each state or district independently runs their NBS program and tests for its own set of conditions, with recommendations made by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) taken into consideration. Many of the ACHDNC recommended CCs are screened for using a dried blood spot from a heel prick within the first 24-48 hours of a newborn’s life. For babies born at a hospital, the blood sample is collected shortly after birth and is sent to the local public health lab for analysis. Babies can also be brought to a clinic or hospital for the sample to be collected and sent.

At the public health laboratory, the blood sample is put through a series of tests that can indicate the possibility of a CC. The results are shared with the baby’s healthcare provider, who will communicate any abnormal findings to the parents. Public health professionals, physicians, and other healthcare professionals coordinate with parents to have follow-up testing done to diagnose the suspected condition. If diagnosed, the infant and parents are referred to specialists for treatment and education. The CDC estimates one in 300 newborns in the United States are eventually diagnosed with a CC after newborn screening.

Types of conditions screened for

NBS programs test for CCs that are serious, treatable, and detectable through screening. A few conditions such as heart defects and hearing loss are tested for using technology at the hospital or clinic. All the other conditions are screened for using a blood sample collected shortly after birth. Special instrumentation at the public health laboratory can detect hormones, metabolic molecules, or DNA sequences in the blood sample. Abnormal types or amounts of these molecules can indicate a CC.

There are currently 31 CCs screened for by all 50 US states, and many states include more, with some states up to 60 or more. The conditions vary in their pathology and include, but are not limited to, metabolic, immune, blood, endocrine, and neuromuscular disorders. To be included in NBS programs, each condition that is screened for has a treatment that can improve health outcomes. After follow-up diagnosis, infants are referred to specialists for comprehensive treatment and education to manage their condition. Many conditions require ongoing monitoring and management throughout a person’s life and may require medication, dietary modifications, or even surgery.

For example, congenital hypothyroidism leads to low hormone production from the thyroid, which can cause developmental delays and brain damage if left untreated. However, infants can lead normal lives if hormone supplements are started early in life. NBS programs detect congenital hypothyroidism before severe symptoms appear and offer life-altering treatment for the affected infant. Each condition screened for has a similar story, which makes NBS programs so important for the long-term health of infants affected by a CC.

Expanding NBS programs for the future

New technologies and biomedical discoveries for diagnosing and treating congenital diseases have rapidly expanded over the past decade. Nevertheless, screening for new conditions in NBS programs has lagged. Barriers to funding, access to equipment, education for staff, and hiring personnel with specific technical backgrounds are often cited as delays in expanding NBS programs. This leaves affected infants vulnerable to disability or death from conditions that have new diagnostic tests and treatments. Because of this gap, strategies for integrating new discoveries with NBS programs are on the minds of many governments, patient advocacy, and research groups.

For example, the importance of understanding the current landscape and future opportunities for NBS programs is underscored by the National Academies of Sciences, Engineering, and Medicine announcing a committee to investigate and make recommendations for improvements. The committee started its work in 2024 and will provide a report on short-term options to improve NBS programs and a long-term vision for ensuring NBS programs are adaptable, flexible, collaborative, and capable of screening new conditions using new technologies. With collaborative efforts from people in public health, medicine, patient advocacy, and research development, NBS programs will continue to provide first-line detection for congenital conditions for generations to come.

Written by: Stephanie Kellogg, PhD

Edited by: Tiffany vanLieshout, PhD

References:

1. About Newborn Screening | Newborn Screening | CDC. Accessed January 6, 2025. https://www.cdc.gov/newborn-screening/about/index.html
2. Conditions Screened by State | Baby’s First Test | Newborn Screening | Baby Health. Accessed January 11, 2025. https://www.babysfirsttest.org/newborn-screening/states
3. Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD. Accessed January 6, 2025. https://www.nichd.nih.gov/health/topics/factsheets/newborn
4. Newborn Screening: Current Landscape and Future Directions. Accessed January 11, 2025. https://www.nationalacademies.org../our-work/newborn-screening-current-landscape-and-future-directions
5. Roundtable on Genomics and Precision Health, Board on Health Sciences Policy, Health and Medicine Division, National Academies of Sciences, Engineering, and Medicine. The Promise and Perils of Next-Generation DNA Sequencing at Birth: Proceedings of a Workshop-in Brief. (Asalone K, Zierler M, Beachy SH, eds.). National Academies Press; 2023:27243. doi:10.17226/27243
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