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Improved newborn screenings for genetic disorders

Published in Birthing Services, Genetics, For the Health of It Author: David Tilstra,MD Author: David Tilstra, MD

CentraCare Clinic - Health Plaza Genetics

When your baby enters the world, the last thing you want to think about is that something could be wrong. Newborn screenings help alleviate those fears.

Since 1965, Minnesota newborns have been tested soon after birth for rare disorders including hearing loss, causes of intellectual disabilities, seizures and critical congenital heart disease. Newborn screening in Minnesota consists of three simple tests: blood spot screening, hearing screening and pulse oximetry screening.

Recently, the Minnesota Department of Health added adrenoleukodystrophy (X-ALD) screening. X-ALD happens when certain fats cannot be broken down in the body. These fats build up and cause health problems. The nervous system and adrenal glands are damaged the most.

Two additional screenings soon will join Minnesota’s mandatory list. These new screenings mean newborns will be tested for 60 different conditions with one blood test within the first day or two of life. The goal is to detect health conditions as soon as possible so treatment can be started as soon as possible — before long-term injury occurs and many times before symptoms start.

The Minnesota Department of Health estimates that the new screenings will help five to 15 newborns in our state every year.