What Parents Should Understand About Newborn Screening


What is newborn screening? It is something that is done as a matter of protocol in all babies born in the US and in some parts of the world. Babies in the US, however, are only screened for three to eight tests when there are over 50 disorders that babies can be born with. Thus, parents are still tasked with getting the other screenings (supplemental newborn screening) done if they want to make sure their babies are free of those rare defects.

The purpose of these tests is very obvious. Early diagnosis makes a lot of difference if any of those life-threatening or life-changing conditions, though rare, occurs in your baby. There are disorders that can be treated and there are those with effects that can be reversed. Immediate identification of the condition is critical in the subsequent days, months or years of the child. So, before leaving the hospital, make sure to ask your doctor what is Anewborn screening and what else is there to be done if you want an expanded screening done. Usually, several tests are conducted, including running the infant through an ultrasound GE machine. Here are some facts that can help you:

·         What are the most common newborn screening conditions?

Most of the conditions are characteristically caused by genetic and metabolic disorders. Some of these are: MCAD that leads in the accumulation of fatty acids in the body damaging the brain damage and causing breathing problems; congenital hypothyroidism or cretinism that is due to not having enough thyroid hormone; sickle cell disorder that is associated with abnormal red blood cells so that they are unable to carry enough oxygen to various parts of the body; and cystic fibrosis that can cause damages to pancreas, lungs, and other organs of the digestive system.

·         Why do you need your baby screened for more disorders?

Hospitals are only required to administer a few of the most frequently occurring or prevalent congenital disorders. It is therefore important that you get your baby screened for more disorders if you want to make sure he/she does not have any of those rare but life-threatening conditions. Many of these genetic and metabolic conditions are untreatable, but they can be managed and symptoms reversed if the condition is diagnosed early. It would be a good idea to ask about doctors who'll perform the tests.

·         Is ultrasound GE not enough to determine the baby's overall wellbeing?

While ultrasound is helpful, it does not reveal every condition of the baby. Most genetic and metabolic disorders can only be identified using specific laboratory screening tests. This is why babies must have most if not all the newborn screening tests 24-48 hours after birth. For an expanded or supplemental screening, ask your doctor about it so you are properly guided.

With many of the supplemental tests being now available in inexpensive screening kits, parents can already get more tests done to ensure that their babies do not have those rare conditions. Getting facts is a good first step and finding answers to your question "what is newborn screening" is important so you will be well guided. Ask your physician for more information.