Massachusetts law requires that all newborns in the state be screened for 10 treatable disorders or conditions within 24 to 72 hours of birth. In addition, Massachusetts offers screening for 20 more conditions. The New England Newborn Screening program optimizes its analysis of samples by creating a profile that more definitively indicates the presence of a specific disorder or disease. This analysis and the subsequent profile are unique in the realm of newborn screening.
One example shows the method’s effectiveness. A newborn at a Boston hospital was exhibiting mild symptoms that were attributed to low birth weight. Within 24 hours of receiving this newborn’s sample, the program performed the analysis, created the profile and notified the hospital that the baby almost certainly had a serious metabolic disorder that could lead to severe developmental delays, and even death, if not treated quickly. As a result of the screening, the baby’s treatment course was immediately adjusted. At a five-month follow up, the baby was doing well. Earlier practices might have narrowed the disorder to one of five, but this new protocol pointed to a specific disorder, enabling the appropriate clinical care sooner.
Each year, the New England Newborn Screening Program screens more than 160,000 babies, helping to ensure that a joyful birth announcement isn’t followed by heartbreak weeks later.
Starting with a blood sample acquired by a tiny prick to a newborn’s heel, the program’s technicians screen for certain medical conditions, aiding early detection and intervention to prevent death, mental retardation and other serious health problems.
Established in 1962, the program became part of UMass Medical School in 1997, immediately enhancing the program’s mission of research, quality control and sample analysis.
New England Newborn Screening has grown to serve six New England states and parts of Mexico and is broadening its reach to developing countries such as Guatemala and El Salvador.
Even though all Massachusetts hospitals have procedures for mandatory screening, infants are sometimes transferred to new units or hospitals soon after birth and occasionally, some newborns are released without having been screened. In response, the program developed a method for comparing the state’s electronic birth certificates against the samples they receive to catch any missed screenings. In the last six months of 2006, the program identified 18 babies who had not been screened. “We’re among a handful of states taking this comprehensive public health approach to newborn screening,” said the program’s director, Roger Eaton, PhD (pictured above).
The program also excels in research to improve the field of newborn screening. A recent discovery showed that an increasing number of newborns who screen positive for a cystic fibrosis gene mutation once considered to be benign for respiratory symptoms were in fact having respiratory problems in childhood. This finding could lead to more aggressive evaluation of babies identified with this type of CF and encourage other programs to screen for the mutation.
New England Newborn Screening Program
This information originally appeared in Partners In Service, which was published by UMMS in 2008. PDF available.