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FDA Approves Newborn Screening Tests for 4 Rare Disorders

1:45

Depending on which state you live in, your newborn may be screened for a series of harmful or potentially fatal disorders when he or she is born.

With a simple blood test, doctors are often able to detect whether a newborn has certain unseen conditions that may cause problems later in life. Although these conditions are rare and most babies are given a clean bill of health, early diagnosis and proper treatment sometimes can make the difference between lifelong impairment and healthy development.

The U.S. Food and Drug Administration (FDA) recently permitted marketing of the “Seeker System,” for the screening of four rare inherited metabolic disorders. It is the first newborn screening test permitted for marketing by the FDA, for these disorders. The conditions are: Mucopolysaccharidosis Type 1 (MPS 1), Pompe, Gaucher and Fabry disease.

All of these disorders are inherited and involve deficiencies of different metabolic enzymes.  

The disorders occur in as few as 1 in 185,000 births, or as many as 1 in 1,500 births, depending on the disease, the agency said. The conditions collectively, are called Lysosomal Storage Disorders (LSDs), and can lead to organ damage and death if not treated in a timely way, the FDA added.

“The Secretary of HHS [U.S. Department of Health and Human Services] recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders,” said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health. “Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That’s why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important.”

Some states now require screening of these disorders, the FDA said, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee.

The newly approved tests require blood samples collected from the prick of a newborn's heel within 48 hours of birth. The agency said it reviewed data from a clinical study of more than 154,000 infants in Missouri. The system identified at least one of the four disorders in 73 of the screened newborns, the agency said.

While some parents may be aware that they could be a carrier of a particular disease, many are not. Also, parents that have adopted an infant may not have a complete family medical history. Infant screenings can help bring parents peace of mind about their baby’s health or give them an early start on treatment for their child.

Story sources: HealthDay,  https://medicalxpress.com/news/2017-02-newborn-screening.html

http://kidshealth.org/en/parents/newborn-screening-tests.html

http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm539893.htm

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