Research Assessment

Subject: Neonatal Screening

Source:

Works Cited

Kelly, Evelyn B. "Newborn Screening: A Special Topic." Encyclopedia of Human Genetics and

Disease, vol. 2, Greenwood, 2013, pp. 578-582. Gale Virtual Reference Library,

go.galegroup.com/ps/i.do?p=GVRL&sw=w&u=j043905005&v=2.1&id=GALE%7CCX2

723700246&it=r&asid=a5079a761bb5759a0da6be4f5e6f1fc0. Accessed 20 Sept. 2017.

Date: September 22, 2017

Newborn screenings came to be in the early 1960s when Doctor Robert Guthrie

developed a blood test that determined if a child has PKU, a metabolic disease called

phenylketonuria. A person who carries this disease is unable to process the amino acid called

phenylalanine, which is a substance necessary for normal growth rate and well-being. If this is

left untreated serious and irreversible brain damage can leave a person unable to walk or have

cognitive thoughts. With this new development Guthrie was able to prick a newborns heel and

test the blood samples for the presence of PKU. If the child has PKU then the newborn can be

placed on a diet immediately, helping the child avoid serious disabilities that could potentially be

life threatening. In the 1970s the second disease able to be tested for was congenital

hypothyroidism. This is when the thyroid does not produce the hormone used for growth. Later,
in the 1990s scientist created a test called tandem mass spectrometry, which allowed for multiple

life threatening diseases and illnesses to be tested for in newborns.

There is controversy around screening a newborn, which is quite confusing to me because

there is no harm to testing a child for potentially deadly diseases. It is important to test for these

illnesses because they can lay dormant for years, leading the parent to think that their child is

healthy and well, when in reality a deadly disease is taking over their childs body. For the

screening to happen the mother must sign consent forms allowing for their child to be tested after

birth. After the babys heel is pricked then the blood will be tested and the results will come in

either diagnosing the child with certain diseases, or clearing them of these diseases. Some of

these deficiencies or illnesses do not show up on the first screening, so if the doctor feels the

need then he or she will ask the mother to come in and do another one. PKU is one of the

diseases that will usually not show up on the first testing, making it sometimes difficult for the

parents to know if their child is healthy or not. In the states some tests are mandatory, but not all

making it hard to diagnose a child who may have deadly diseases, but is not tested for it due to

the fact that the legislature has not ruled it to be a part of the list. In 2011 two children both born

with glutaric acidemia, were presented at the Newborn Screening Symposium in San Diego.

Zachary Wyvill had not been tested for the disease at birth and from that has spent a life in and

out of the hospital and in a wheelchair. Zachary Black had been screened and diagnosed allowing

for him to be immediately treated and helped, and at the symposium he was a healthy and well

child living a normal life unaffected by the disease that lingers in his body. Screenings are

important and can save a child who is at risk of dealing with serious brain disabilities or even

death.
 The ability to save childrens lives is something so valuable. These tests are important not

just for the life at hand but those that care for the child. I plan on asking the doctors in my

informational interviews what other disease these tests can find and how this has helped the

medical field in the years since the tandem mass spectrometry had been introduced into their

world.