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Screening A Newborn For Galactosemia: What Do I Need To Know?

If you are pregnant, you may be curious about Galactosemia. It’s important for you to be aware of possible medical complications out there and know what to look for and what you can do.

Newborn screening, also known as NBS, is typically how Galactosemia is diagnosed and discovered. Children who are affected may have serious and irreversible affects of the disease.

It’s important to take the disease seriously and to follow doctor recommendations

Do not delay in allowing your newborn child to be screened and checked for metabolic disorders. Galactosemia is not the only disorder out there to be aware of. Find out if you live in a state that screens all newborns for all detectable disorders. If you do not, there are independent laboratories which offer these services.

You can contact the following about supplemental newborn screening:

PerkinElmer Genetics Inc. offers 50 + disorder screening for $95.35. International packets may be available. Contact 1-866-463-6436.

Mayo Medical Laboratories offers partial screening of 35+ disorders for $57.30 by physician order only. Ask for Supplemental Newborn Screen, MML Test # 82594. Contact 1-800-533-1710.

The Baylor Medical Center offers partial screening of 30+ disorders for $25.00, but is not available in New York. Contact 1-800-422-9567

University of Colorado Health Sciences Center Biochemical Genetics Laboratory offers partial screening of 20+ disorders for $25.00. Contact 1-303-724-3826.

Speak to your doctor and/or hospital before you give birth to determine whether or not your baby will be checked for Galactosemia and other illnesses once he or she is born. If your hospital doesn’t plan on checking your baby, make arrangements ahead of time to have your baby tested.

You can also find other resources online or speak to your doctor about any additional concerns you may have. It is very important to have your baby screened for these things to ensure his or her overall health. If you don’t have him or her screened and it turns out that they have a health condition, it could be potentially life-threatening if ignored or left untreated. Unfortunately, there may not be symptoms immediately, so relying on the fact that you will notice something wrong with your baby is just too risky.

Keep in mind that Galactosemia only affects 1 in every 60,000 births, but do you really want to avoid finding out that your baby is that 1? You baby’s life depends on you persistence in finding out everything you can about his or her health conditions at birth and throughout life. You owe it to your child and to yourself to know for sure.