Birth Defects: A Case Study

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Care of Birth Defects: the effects on individual and society
Discovering and Defining Birth Defects
Birth defects, also termed anomalies, are abnormalities in the newborn child that develop in utero. Often times, birth defects can be hereditary or developed as a result of environmental factors. According to Bonanno, Bennett, and Pitt (2013, p. 100), "Congenital anomalies, also known as birth defects, are defined as structural or functional anomalies including metabolic disorders that are present at the time of birth. Congenital anomalies affect approximately one in thirty three infants and result in 3.2 million birth-related disabilities worldwide every year." In the healthcare profession, one often sees birth defects. Nurses, in particular, …show more content…
Forest and Priest (2015, p. 54) stated, "The incidence of CHDs is 6 to 8 per 1000 birth, and worldwide, 1.35 million newborns are born with a CHD each year." Researchers have discovered the critical use of pulse oximetry in all newborns to help prevent undetected heart defects (Andrea, 2015, p. 314-316). As Andrea (2015, p. 316) describes that a goal of pulse oximetry is detecting invisible hypoxia as a result of complications of structure in the heart and vessels. As a nurse, one needs to be sure to assess pulse oximetry to help detect possible heart defects. A nurse's job is to continuously watch for the physical assessments, such as skin color, and vital signs of these newborns to monitor for any changes. If any do happen to occur, a nurse must act appropriately in a timely manner and contact the physician. This type of screening is a quick and easy preventative measure that can be done by the nurse to check for the possibility of a CCHD before the newborn and mother are discharged (Andrea, 2015, p. 316). Interventions for CCHD include teaching the parents how to monitor and care for the newborn. Assessment is very important to complete before interventions when dealing with heart …show more content…
Testing, in some form, is done in almost every pregnancy. There are many different types of testing that can be done to find out whether or not there is a risk of or present birth defect. Gregg (2017, p. 869) discusses two types of testing which is invasive and noninvasive testing. Gregg describes invasive tests such as chorionic villous sampling and amniocentesis which both approach fetal tissue for samples whether that is fluid or tissue to determine if there is any complication with the fetus. Gregg (2017, p. 869) on the other hand states, "Noninvasive procedures are those limited to blood drawing, buccal smear, or the collection of exfoliated cells." Other tests used include gene by gene carrier screening, karyotyping, genome sequencing, and isolating fetal cells (Gregg, 2017, pp. 869-874). With these testing options, parents are able to discover the baby's chances of having any type of birth defect before the pregnancy or during the pregnancy. There is a certain test that indicates parents' risk for their child having a birth defect; "Population-based genome sequencing offers the knowledge of risk before planning a pregnancy" (Gregg, 2017, p. 876). These different assessment tests along with the physical head-to-toe assessment and interview process can be requested or done by the nurse. Assessments can prolong life by helping to start
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