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Newborn Screening

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In the early 1960s, scientist Robert Guthrie, PhD, developed a blood test that could determine whether newborns had the metabolic disorder phenylketonuria (PKU). People with PKU lack an enzyme needed to process the amino acid phenylalanine, which is necessary for normal growth in kids and for normal protein use throughout life. However, if too much phenylalanine builds up, it damages the brain tissue and can eventually cause substantial developmental delay.

If kids born with PKU are put on a special diet right away, they can avoid the developmental delay the condition caused in past generations and lead normal lives (Lowdermilk, et.

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al, 2006). Since the development of the researchers have developed additional blood tests that can screen newborns for other disorders that, unless detected and treated early, can cause physical problems, developmental delay, and in some cases, death. In worldwide basis, in every 2,389,959 screened 45,283 infants are positive in newborn screening.

This hilarious evidence makes every individual more cautious of the lives of the infants.

Moreover, even rich people may be vulnerable to this. In the Philippines, 9. 7% of all screened infants are positive to newborn screening as of 2011 based on the Philippine Health Statistics, DOH and Region VII ranked 2nd for most number of positive result of newborn screening. Problem arouses when parents’ knowledge and attitudes towards newborn screening causes an alteration with the way they provide appropriate care to their newborn.

This study wants to identify the knowledge and attitudes of parents undergoing newborn screening. The researchers aim to identify different factors that may alter the knowledge and attitudes of these parents towards their children and to identify the possible solutions for these problems. In this regard, the researchers aim to determine the knowledge and attitudes of parents with newborn undergoing newborn screening. This goes to show that a study should be conducted to determine the differences of the knowledge and attitudes of parents toward newborn screening.

This study will also thoroughly determine the factors that may cause in the variations of attitudes of different parents and the relationship of these factors to their attitudes. This study will provide a clearer understanding on how to deal the different level of knowledge and attitude and modify them to provide a warmer and open newborn screening a help for betterment of their newborn’s health development. This modification would then help parents’ understanding of the needs of their children.

The researchers are competent enough to conduct this study since the researchers are fully equipped with knowledge which they learn from Fundamentals of Nursing and Maternal and Child Health Nursing and Medical-Surgical Nursing. This knowledge is strengthened by the skills acquired from the clinical exposure to different clinical areas such as, Delivery Room – Operating Room and OB-Gyne ward of Sacred Heart Hospital. REVIEW OF RELATED LITERATURE

Before the newborn and mother are discharged from the birthing unit the nurse informs the parents about the newborn screening tests and tells them when to return to the birthing center or clinic if further tests are needed. Some of the disorders that can be identified from a drop of blood obtained by a heel stick are cystic fibrosis, galactosemia, congenital adrenal hyperplasia, congenital hypothyroidism are the only tests that are performed (AOG, Committee on Genetics, 2003).

Early discharge put infants in at risks for delayed or even missed diagnosis of PKU and congenital hypothyroidism because of decreased sensitivity of screening prior to 24 hours of age. Newborn should be retested by two weeks of age if the first test was done prior to 24 hours of birth. Parent- children relationship builds up children’s characters and lives in their adaptation to their growth. Parent’s interaction is a great concern; basically their attitudes towards their newborns would vary depending on the situations of life.

Patients have different attitudes when they recognize abnormalities and defects on their newborns especially when the newborn screening test posits a positive result. The positive result of newborn screening causes different emersions of attitudes that alter the parents-children relationship that will further change the perception of life of the children as they grow (Ladewig, Patricia, et. al, 2006). The Casey Model of nursing (1988, cited by George, 2009) comprises the five concepts of child, family, health, environment and the nurse.

The philosophy behind the model is that the best people to care for the child is the family with the help from various professional staff. There should therefore be a partnership between parents and caregivers. In connection to the study, philosophy represents the unity and relationship between the nurse and the family to achieve the best health condition of the child as possible. This includes the responsibility of the nurses to undergo the child into Newborn Screening to evaluate the possible abnormalities that may occur to the child.

The theory of Human Becoming by Parse (1995, cited by George, 2009) emphasizes free choice of personal meaning in relating value priorities, co-creating of rhythmical patterns in exchange with the environment. Parse believed that each choice opens certain opportunities while closing others since each individual makes his or her choices, the role of the nurse is that of guidance not decision maker. In relation to the study the nurse serve as a guide for women in gathering correct information on newborn screening and during their decision making concerning the screening of their child.

Using both theories, a nurse can utilize the philosophy, purpose and practice of nursing while serving as a guide to the mothers in order for them to make the right decision that are advantageous to their children when it comes to the benefits of newborn screening test. Mothers play a crucial role in child and family healthcare. This is even more important in the Philippines. Mothers generally allocate financial and non-financial resources (like time) for the family. Therefore, mothers typically will have an important role in the accessing of healthcare in the household (Policarpio, 2006).

Education of mothers is a very important factor. It has been generally observed that the higher the education of mothers, the lower healthcare expenditures observed (Feldstein and Severson, 1964, Grossman, 1972). The negative correlation with health expenditure may not be seen as an actual decrease in demand for healthcare, but a shift in the type of healthcare goods and services demanded (Policarpio, 2006). Higher education among mothers leads to a better recognition of the need for medical care, and it has been shown that higher education makes mothers more open to medical care. Better educated mothers report sickness more readily.

Likewise, there is an increase in the use of preventive methods, which then subsequently decreases tendency to spend more for preventive care and therefore subsequently les for more acute illness later (Feldstein as cited by Policarpio, 2006). Mothers’ age also affects the orientation towards healthcare. Younger mothers are said to be more open to more modern medical concepts and practices than older mothers. They generally demand more modern health modalities and facilities. Older mothers are more used to traditional ways (hilot, herbals, herbolaryo, etc) of health care (Policarpio, 2006).

It seems that single people tend to use more medical care. Single people have more disposable income and time to devote for themselves for themselves and therefore for health-seeking behavior (Feldstein as sited by Policarpio, 2006). Newborn screening is an organized process of identifying medical conditions in newborn babies that, if untreated, can cause developmental delays, serious illness, or even death. Generally, these conditions cause no symptoms in the first days of life. Screening programs have therefore been developed to identify and treat babies with these conditions before permanent damage occurs (http://www. tvincenthospital. org/Scripts/pageview. asp? id=38245. 7%). Newborn screening is a simple procedure to find out if your baby has a congenital metabolic disorder that may lead to mental retardation or even death, if left untreated. Most babies with metabolic disorders look “normal” at birth. By doing newborn screening, metabolic disorders may be detected even before clinical signs and symptoms are present. And as a result of this, treatment can be given to prevent consequences of untreated conditions (Family Health Office – DOH, 2012).

Newborn screening is ideally done on the 48th – 72nd hour of life. However, it may also be done 24 hours from birth. Some disorders are not detected if the test is done earlier than 24 hours. Using the heel prick method, a few drops of blood are taken from the baby’s heel and blotted on a special absorbent filter card. The blood is dried for 4 hours and sent to the Newborn Screening Center (NSC) (Family Health Office – DOH, 2012). The blood sample may be collected by a trained physician, nurse, midwife or medical technologist.

It is available in participating Newborn Screening Facilities (Hospitals, Lying-ins, Rural Health Unit and Health Centers). If babies are delivered at home, they may be brought to the nearest Newborn Screening Facility (Family Health Office – DOH, 2012). Normal Newborn Screening results are available 7-14 working days from the time newborn screening samples are received at Newborn Screening Centers. Positive NBS results are relayed from the NCS to the NSF immediately. Parents should claim the Newborn Screening results from their physician or health practitioner (http://www. src-nih. org. ph). Over 150 health professionals and health administrators from Region 6 and Negros Oriental attended a seminar entitled “Helix-5: A Newborn Screening Update” held on October 21, 2010 at Westown Hotel, Iloilo City. Guest speakers, Dr. Barbra Charina Cavan and Dr. Margaret Jane Galilea, captivated the audience with clear and in-depth explanation of the five congenital metabolic disorders namely: Congenital Adrenal Hyperplasia (CAH), Congenital Hypothyroidism (CH), Phenylketonuria (PKU), Galactosemia (GAL), and G6PD deficiency.

They stressed the importance of newborn screening in the early detection and management of these metabolic disorders before irreversible damage manifest (Millares, Al, 2010). In 2006, Ms. Elvy Lobeda, a nurse at the Atok District Hopital (ADH), was sent to Manila for NBS training. She echoed to all hospital staff what she learned, including the proper collection of blood samples. In 2007, with the support of the Chief of Hospital and the Chief Nurse, Newborn Screening was fully implemented (Ruiz, 2010). Initially, ADH had difficulty in convincing patients mainly because of the high cost of screening.

In addition, the concerned staff had a quite a number of contaminated and inadequate samples and experienced difficulty in procuring NBS kits and submitting specimens (Ruiz, 2010). To solve these problems, ADH employed the following strategies: 1. Formation of a Newborn Screening Committee to quarterly take up updates or address NBS problems. The members are the following: The Chief of Hospital (Dr. Nora Ruiz); Chief Nurse (Ms. Marjorie Ignacio); NBS Nurse-in-Charge (Ms. Elvy Lobeda); 2. Giving of lectures on NBS to patients during prenatal check-ups and to admitted OB patients. 3. Preparation and distribution of NBS flyers to patients during prenatal check-ups; and 4. Discussion of NBS in the Inter-local Health Zone meeting so that the RHUs can help in the advocacy (Ruiz, 2012). Consequently, the research opportunities are plentiful. In the United Kingdom, the value of conducting research based on blood samples gathered through newborn screening is acknowledged as having contributed towards answering important public health questions and leading to advancements in newborn and antenatal screening technologies.

At the same time, significant ethical issues underlie the ability to access blood samples derived from newborn screening, including the appropriateness of using samples obtained through dissent rather than informed consent for secondary purposes, and the ability to garner public support for such research. Biological specimen databanks are often met with great reservation by the public because of their potential for misuse and a lack of visible bodies to provide regulation (Guralnick, 2008).

Although data regarding attitudes towards storage and use of newborn screening samples is limited, GustafssonStolt et al (2008) report their respondents expressing concern about the storage of material and the right to be informed of any screening or project results. In relation to using newborn blood samples for research purposes, data from Sweden suggests that mothers have generally positive attitudes to research. Those who choose to allow their child’s blood sample to be used for research cite the potential to contribute to research as the primary motivation for doing so.

Those who do not allow participation often cite concerns about making decisions on behalf of their child regarding genetic material as a primary consideration. The paucity of information about parental attitudes in relation to issues in newborn screening has been identified as an issue requiring exploration (GustafssonStolt et al, 2008). For policy development in particular, greater dialogue between government and community is necessary so that community concerns and any associated ethical issues may be adequately addressed.

This study aims to explore new mothers’ knowledge and attitudes towards newborn genetic blood screening. Specifically, it aims to ascertain new mothers’ awareness of newborn screening, and their attitudes towards newborn screening (GustafssonStolt et al, 2008). Newborn screening (NBS) for phenylketonuria (PKU) became possible in the early 1960s when Guthrie developed both the bacterial inhibition assay to measure phenylalanine from blood and the filter paper on which to collect and test the blood samples [Guthrie and Susi, 1963].

In 1963, Massachusetts became the first state to pass mandatory NBS legislation for PKU screening. Guthrie and the National Association for Retarded Children (NARC now known as the ARC) lobbied for mandatory screening to ensure that all children with preventable retardation were identified and most states adopted such legislation [Koch, 2007]. Today, mandatory NBS exists in 48 states; parental consent is needed in the other two. One concern with a mandatory screening program is what parents understand.

When consent is needed, health care providers must ensure, at minimum that parents know that screening is being done and that the parents agree to its performance. Ideally, health care provider would also explain why the test is being done, what the risks and benefits are, and what follow-up the parents can expect. Although mandatory screening does not preclude such discussions, data show that they often do not occur (Campbell and Ross, 2003; Davis et al. , 2006; Detmar et al. , 2007). Discussions about NBS are important because lack of parental understanding may cause harm.

If parents do not understand that an abnormal NBS result requires diagnostic testing to confirm or refute a presumptive diagnosis, they may fail to obtain appropriate follow-up in a timely manner and threaten the success of reducing morbidity and mortality (Arn, 2007; James and Levy, 2006; Miller et al. , 1990). In Illinois, NBS has existed since 1965 and has always been mandatory. In this manuscript, researchers examine parental understanding of NBS for two conditions, sickle cell disease (SCD) (introduced in Illinois in 1989) and cystic fibrosis (CF) (introduced in Illinois in 2008).

NBS for both these autosomal recessive genetic conditions reveals some information about heterozygote carriers. Different researchers examined maternal attitudes and knowledge about NBS for SCD and CF, about the genetics, symptoms and treatments for SCD and CF, and how women learn about NBS. We hypothesized that there would be greater knowledge of SCD than CF; and that most women would be unfamiliar with specific details about NBS, but that they would be supportive of NBS (Lowdermilk, et. al, 2006).

Prodromidis and colleagues (2005) studied early and extended contact for young, unmarried, predominantly African-American, low-socioeconomic level mothers. They found that mothers who had early and extended contact (rooming-in) with their infants during the first 18 hours after birth looked at, talked to and touched their newborns more n did mothers who had minimal contact (infant feedings only). Two studies by Troy (1993, 1995) produced conflicting results regarding time of first holding of the infant and to development of maternal attachment feelings.

Mother-baby care, also called couplet care, is another form of family-centered care. Care and teaching for the mother and baby are provided by a primary nurse, fostering family unity. Parents involved in this approach are likely to be more self-confident in care, and maternal attachment and role attainment are promoted (Lowdermilk, et. al, 2006). Extended contact with the infant should be available for all parents but especially for those at risk for parenting in adequacies, such as adolescents and low-income women.

Any activity that optimizes family-centered care is worthy of serious consideration by a postpartum nurses (Lowdermilk, et. al, 2006). Another theory that supports the present undertaking is Nola Pender’s Health Promotion Model. The health promotion model describes the multi-dimensional nature of persons as they interact within their environment to pursue health. The health promotion model notes that each person has unique personal characteristics and experiences that affect subsequent actions.

The set of variables for specific knowledge and affect have important motivational significance. These variables can be modified through nursing actions. Health promoting behavior is the desired behavioral outcome and is the end point of HPM. Health promoting behaviors should result in improved health, enhanced functional ability and better quality of life at all stages of development. The final behavioral demand is also influenced by the immediate competing demand and preferences, which can derail an intended health promoting actions (McEwens, 2008).

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Newborn Screening. (2016, Nov 25). Retrieved from https://graduateway.com/newborn-screening/

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