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    By Nicole Heim, MPH, CPH, REHS
    Full-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 Syndrome, 2015).

    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 outcomes.

    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.


    Centers for Disease Control and Prevention(CDC). (2015). Birth Defects: Data & Statistics. Retrieved on February 19, 2016 from http://www.cdc.gov/ncbddd/birthdefects/data.html

    Centers for 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

    Centers for Disease Control and Prevention (CDC). (2014). Birth Defects are Costly. Retrieved on February 19, 2016 from http://www.cdc.gov/features/birthdefectscostly/

    Centers for 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/

    Children’s Hospital 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/

    Dungan, Jeffrey S., MD. (2013). Prenatal Genetic Counseling. Retrieved on February 19, 2016 from http://www.merckmanuals.com/professional/gynecology-and-obstetrics/prenatal-genetic-counseling-and-evaluation/prenatal-genetic-counseling

    National Human Genome Research Institute (NHGRI). (2015). Frequently Asked Questions About Genetic Testing. Retrieved on February 19, 2016 from http://www.genome.gov/19516567

    National Library of Medicine: MedlinePlus. (2015). Newborn screening tests. Retrieved on February 19, 2016 from https://www.nlm.nih.gov/medlineplus/ency/article/007257.htm

    World Health Organization (WHO). (2015). Congenital anomalies. Retrieved on February 19, 2016 from http://www.who.int/mediacentre/factsheets/fs370/en/

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