January is National Birth Defects Prevention Month--a time dedicated to raising awareness of birth defects, their impact and prevention where possible. Aside from encouraging good prenatal care, another way hospitals and health care providers can help is by identifying birth defects and disorders through the Newborn Screening Program. When the program was first instituted in New York in 1965, health care providers only screened for PKU (Phenylketonuria)—a rare, treatable genetic disorder. People with PKU lack the ability to create the enzyme needed to break down an amino acid called phenylalanine. Without a special diet, brain damage can occur. Thanks to this one screening, health care providers have been able to save thousands of lives and improve the quality of life for countless others for more than 50 years.

Since 1965, New York has been adding to the list of genetic diseases and disorders as part of the Newborn Screening Program to help reduce infant mortality rates and improve the quality of life for those who may be at risk. In 1996, for example, a state law was established to test all newborns for HIV exposure if parents provided consent. In 1997, HIV testing was made mandatory for all newborns in New York state. In 2013, the state made mandatory a test for congenital heart defects through the use of pulse oximetry. Pulse oximetry measures blood oxygenation levels with a sensor that attaches to the baby’s skin. Low levels could be symptoms of a heart defect and if the baby’s levels are low, health care providers recommend further testing.

Infants born in hospitals shortly after birth are screened for more than 45 disorders. Each disorder is rare—1 in 300 children test positive—but the disorders can be serious and in some cases, the child’s outcome is better with early detection if treatment is available. Although newborn screening programs differ slightly from state to state, the U.S. Secretary of Health and Human Services provides guidance to state newborn screening programs, https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html. In 2018, three more disorders were added to New York's list of screened disorders based on federal recommendations. The new list includes screening for spinal muscular atrophy (SMA)--a highly rare genetic disorder that affects muscle movement. Recent studies have shown that children who are diagnosed and treated before 7 months of age have a greater chance at improving motor function and may slow the disease's progression.

State lawmakers have also added to the list of screened disorders thanks to the advocacy of parents. Aidan's Law--which passed in 2013--requires newborn screenings for a genetic disorder called adrenoleukodystrophy, or ALD. The disorder attacks the nervous system and mainly affects young boys but if ALD is detected in newborns, a bone marrow transplant can help them survive. The legislation is named for Aidan Jack Seeger who died from ALD in 2012 at age 7. Aidan's family has worked hard to try and save other children and families. Since the New York bill passed and became law, several other states have passed legislation to add ALD to the screening list and there is a push by the family to pass federal legislation that would require this screening in all 50 states. A state law in 2018 added the rare virus called cytomegalovirus (CMV) infection to the screening list for those who show signs of a hearing impairment. Cytomegalovirus is the leading non-genetic cause of deafness in children. In addition to the testing, the new law seeks to educate pregnant women about the disease and how it is transmitted in order to protect unborn babies.

In addition to saving lives, screenings help to prevent intellectual and physical disabilities. They also help provide important data that doctors can use to help target and hopefully provide more treatments and cures for diseases and disorders in the future. To learn more, visit https://www.wadsworth.org/programs/newborn/screening. If you have any questions or comments, or if you would like to be added to my mailing list or receive my newsletter, please contact my office by mail at 200 North Second Street, Fulton, New York 13069, by e-mail at barclaw@nyassembly.gov, or by calling (315) 598-5185.