Newborn screening in Ukraine successfully launched amid war

11 SMA diagnoses among more than 65,000 babies screened since late 2022

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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An infant in red pajamas sleeps peacefully.

Even though Ukraine has been at war for more than a year, a newborn screening program for spinal muscular atrophy (SMA) was launched late last year — and so far the program has successfully tested tens of thousands of babies, providing early diagnoses for nearly a dozen infants.

A trio of scientists in Ukraine and the U.K. briefly described the program’s success in a paper, “Universal newborn screening for spinal muscular atrophy in Ukraine,” published in The Lancet.

“We think that the successful implementation of genetic newborn screening in Ukraine, despite the challenges introduced by the nation being in a state of war, illustrates that management and prevention of rare diseases is not only important, but also feasible even in circumstances that compromise state organisation,” the scientists wrote.

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The team added that they hope their experience of successfully launching such a program in a country that’s actively at war “might inspire physicians struggling to implement newborn screening for spinal muscular atrophy and other rare conditions in their own countries.”

Newborn screening involves testing all babies born for congenital diseases like SMA. If a newborn screening test is positive, babies can be referred for additional testing to confirm the diagnosis and start on treatment as early as possible. Since available therapies for SMA can slow the disease’s progression, but cannot repair damage that’s already occurred, starting therapy early is a critical goal for newborns with the disease.

Newborn screening programs have been successfully implemented in most U.S. states and much of Europe, and activists have been pushing to enact similar programs around the world.

In Ukraine, a newborn screening program for SMA has been in the works since 2021. Originally, the plan was to launch the program country-wide in June 2022 — but plans were thrown into disarray when Russia launched its invasion of Ukraine in February 2021.

Despite war-related setbacks, officials decided to make the SMA newborn screening program available to as many people in Ukraine as possible, as early as possible.

“Despite the partial occupation of Ukraine and the institution of martial law, a decision was made at the highest level of the state to introduce expanded neonatal screening at the earliest opportunity under the form of a pilot programme with free opt-in participation,” the researchers wrote.

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The program officially launched last October, after Ukrainian forces regained control of the area surrounding Kyiv (also spelled Kiev), the country’s capital. The program has been ongoing at centers in northern and western Ukraine, with testing conducted at two specialty laboratories in Kyiv and Lviv (a city in western Ukraine).

In the first seven months of the program, more than 65,000 newborns have been screened for SMA, and 11 babies have been diagnosed with the disease — a rate that’s similar, if a bit higher, than rates reported by other similar programs. The average time from getting the screening test to getting results from the laboratory was four days.

Four babies began treatment with Evrysdi (risdiplam), with one leaving the country to receive treatment with Zolgensma gene therapy.

The remaining patients were either being followed-up, left the country, or received palliative care. One infant did not receive any intervention as the “parents denied diagnosis, and refused treatment.”