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DPH: Newborn screening for rare potentially fatal genetic disorder began January 1 2020

By Connecticut Department of Public Health (DPH)

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Hartford, CT - The Connecticut Department of Public Health (DPH) on Friday is reporting that the state public health laboratory in Rocky Hill has begun to conduct newborn screening tests for Spinal Muscular Atrophy (SMA), a rare genetic disorder that can result in loss of nerve and muscle control, and can be fatal. The newborn screening began January 1, 2020 to comply with a new state law passed in 2019 requiring DPH to conduct newborn screening for the condition. It is estimated that SMA afflicts 1 in 11,000 Connecticut residents. People with SMA have a change in a specific gene that prevents it from making enough of the protein that nerve cells need to survive. The disorder was recently added to the Federal Advisory Committee on Heritable Disorders in Newborns and Children’s Recommended Uniform Screening Panel (RUSP).

“This is a huge step forward for public health in Connecticut,” said DPH Commissioner Renée D. Coleman-Mitchell. “The ability to screen newborns gives allows the medical community to diagnose a rare and potentially fatal genetic disorder such as Spinal Muscular Atrophy before symptoms are visible. It also gives medical providers an opportunity to recommend the best possible plan of care for families and their children.”

There are different types of SMA. Most children have SMA Type 1, which causes weakness and, without treatment, can worsen quickly and lead to death. While there is no cure for SMA, new treatments can slow or even prevent SMA symptoms from getting worse, improve muscle function and lower the risk of death from SMA (according to Health and Resources and
Services Administration). Legislation was also passed in 2019 that allows the DPH to add other disorders to the CT newborn screening panel once they have been added to the RUSP with approval from the Connecticut Office of Policy and Management. The RUSP is a list of disorders that the Secretary of the federal Department of Health and Human Services (HHS) recommends for states to screen as part of their state universal newborn screening (NBS) programs. Disorders on the RUSP are chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments. It is recommended that every newborn be screened for all disorders on the RUSP2.

The CT NBS Program works to ensure that every newborn, who is born or resides in Connecticut, has a valid newborn screening on record and that those infants with abnormal screening results are promptly referred to a specialty treatment center for further evaluation and treatment when needed. To complete the screening, a small amount of blood is taken from the newborn’s heel shortly after birth and submitted to the state laboratory to be screened for over 60 conditions.

When a newborn is identified through NBS at being at risk of having SMA, the CT NBS Program will quickly report the result to the Connecticut Newborn Diagnosis and Treatment Network which works to immediately connect the infant, family and the infant’s primary care provider with a specialist with expertise in SMA to either rule out or confirm the disorder.

Currently, eleven states screen for SMA.

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