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Learning Center Experience
By Nicole Heim, MPH, CPH, REHSFull-Time Adjunct Faculty Kaplan
University School of Health Sciences
According to the Centers for Disease Control and Prevention’s
(CDC’s) “10 Things You Need to Know About Birth Defects,” “Birth defects affect
1 in 33 babies every year and cause 1 in 5 infant deaths.” In addition, “Hospitalization for birth defects costs the
U.S. over $2.6 billion annually. This cost is higher when including the
financial and emotional impact of living with birth defects” (CDC, Birth
Defects are Costly, 2014).
To better understand birth defects, we must first know how
they come about. Many birth defects are caused by a chromosomal abnormality.
The overall most common birth defect is Trisomy 21 (also knows as Down
syndrome) with 1 in every 691 babies born being affected (CDC, Birth Defects:
Data & Statistics, 2015). This
occurs when a person has an extra chromosome (CDC, Birth Defects: Facts about Down
Other birth defects are inherited and called autosomal
dominant, autosomal recessive, or sex- or X-linked genes (Children’s Hospital
of Wisconsin [CHW], 2016). All people have 23 chromosomes; 22 of these
chromosomes are autosomal, or non-sex chromosomes, and 1 pair are the sex
chromosomes (CHW, 2016). Chromosomal mutations can be passed down by parents and
can occur in one of the 22 autosomal chromosomes (dominant or recessive), or on
the one sex- or X-linked chromosome (CHW, 2016).
Girls have two X chromosomes, and boys have one Y chromosome
and one X chromosome (CHW, 2016). Sex- or X-linked defects are more prevalent
in boys because they only receive one X chromosome; in girls, the second X
chromosome can make up for the damaged portion of the DNA (CHW, 2016).
A couple who has decided to have children can complete
genetic testing to determine if they are carriers of a dominant, recessive, or
X-linked mutation, commonly called “carrier testing” (National Human Genome
Research Institute [NHGRI], 2015). Because they show no symptoms of the
disease, carriers may not know they have a mutation (NHGRI, 2015). The only way
to fully prevent autosomal or X-linked mutations from being expressed by
carriers who carry one or more of the genes is to not have children or use
in-vitro fertilization (Dungan, 2013).
Finally, congenital birth defects are the result of
development gone awry in the womb. These types of defects are easiest to
prevent because they are not inherited, but usually caused by environmental
factors. According to the World Health Organization (WHO) (2015), “Although
approximately 50% of all congenital anomalies cannot be linked to a specific
cause, there are some known causes or risk factors.”
The first approach to avoiding congenital birth defects is
for potential parents to be educated on what they can do to prevent their child
from being affected. During the pre-conception period, both men and women
should reduce their exposure to known environmental hazards, including but not
limited to chemicals, alcohol, tobacco smoke, and heavy metals, while
increasing their nutrition and becoming fully vaccinated (WHO, 2015). While
this may not prevent all congenital birth defects, it can immensely improve
In the prenatal period, women need to have frequent prenatal
visits and take part in prenatal screenings for disease, if available (WHO,
2015). These tests can look for a variety of birth defects, including genetic
mutations and congenital defects. After the baby is born, the child should be
tested for some of the more common birth defects; the testing varies from state
to state in the United States, but all states test for a minimum of 26
disorders on a standardized panel (MedlinePlus, 2015).
On a population health level, maternal and child health
professionals (doctors, nurses, health educators, etc.) need to be vigilant in
educating the community on how to prevent birth defects. We need to continue funding
research into birth defects, including their causes, because we do not fully
understand all of the risks.
In closing, it is important for couples who decide to start
a family to be fully educated on the risks of having a child with a birth
defect, and how to help prevent these defects from occurring. With continued
research and education, the population can reduce the potential for birth
defects, thereby creating a healthier, more productive society.
Nicole Heim, MPH, CPH, REHS, is a faculty member at Kaplan University. The views expressed in this article are solely those of the author and do not represent the view of Kaplan University.
Disease Control and Prevention(CDC). (2015). Birth Defects: Data &
Statistics. Retrieved on February 19, 2016 from http://www.cdc.gov/ncbddd/birthdefects/data.html
Disease Control and Prevention (CDC). (2015). Birth Defects: Facts about Down
Syndrome. Retrieved on February 19, 2016 from http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
Disease Control and Prevention (CDC). (2014). Birth Defects are Costly.
Retrieved on February 19, 2016 from http://www.cdc.gov/features/birthdefectscostly/
Disease Control and Prevention (CDC). (2014). CDC Features: 10 Things You Need
to Know About Birth Defects. Retrieved on February 19, 2016 from http://www.cdc.gov/Features/BirthDefects/
of Wisconsin (CHW). (2016). Fetal Concerns Center: Genetic Disorders. Retrieved
on February 19, 2016 from http://www.chw.org/medical-care/fetal-concerns-center/conditions/infant-complications/genetic-disorders/
S., MD. (2013). Prenatal Genetic Counseling. Retrieved on February 19, 2016
Genome Research Institute (NHGRI). (2015). Frequently Asked Questions About
Genetic Testing. Retrieved on February 19, 2016 from http://www.genome.gov/19516567
of Medicine: MedlinePlus. (2015). Newborn screening tests. Retrieved on
February 19, 2016 from https://www.nlm.nih.gov/medlineplus/ency/article/007257.htm
Organization (WHO). (2015). Congenital anomalies. Retrieved on February 19,
2016 from http://www.who.int/mediacentre/factsheets/fs370/en/
What Do Medical Professionals Do: A Personal Outlook
A Collection of Documents and Videos Designed to Inform and Inspire
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