How The Neonatal Newborn Examination Sits Within Paediatric/ Maternal Health Screening - Essay Example

? HOW THE NEONATAL NEWBORN EXAMINATION SITS WITHIN PAEDIATRIC/ MATERNAL HEALTH SCREENING How theNeonatal New born Examination Sits Within Paediatric/ Maternal Health Screening New born screening is a set of designed physical examinations and laboratory tests that are performed on a baby within a few days of its birth. These tests are performed by midwifes, general paediatricians or nurses. The aim of these tests is to ensure the healthy status of a baby and detect any serious genetic, neurological, otological or physical abnormalities as soon as possible. Blood tests are performed by authorized medical personnel to detect any inherited disorders for instance cystic fibrosis or sickle cell disease. Moreover, hearing of the baby is also checked because of the high prevalence of hearing loss in babies. (NHS.UK 2011). Another part of newborn screening is a thorough physical examination. A complete review of the baby’s family history, maternal and antenatal history is done. Then baby’s appearance, fontanelles, heart for rate, rhythm and sounds, eyes for red reflex, respiratory system for rate and lung sounds and hip and spine are checked for symmetry and stability.( Lomax 2011) Screening tests are performed on seemingly healthy babies on a large-scale to separate out the unhealthy from the healthy ones. Hence many babies might not have any of the diseases for which they are tested.( NHS.UK 2011) This is a very important and widely applied form of preventive medicine all over the world because of its very beneficial public health results and help in early cure and treatment of genetic, hematologic and endocrinological disturbances in babies (Dave & Das 2010). New-born screening routines originated from the efforts of scientists to prevent an inherited metabolic disorder called phenylketonuria. Dr. Robert Guthrie was the first person who came up with a proper screening test for new-borns to detect this inborn metabolic error. This test because of its affectivity was immediately accepted by the public health centres in UK and USA (Dave & Das 2010). It gave some false positive results in some babies, and although they were healthy they were put on a phenylalanine free diet, which caused growth retardation in them. However, this breakthrough measure by Guthrie led to new researches and studies in screening tests for other inherited genetic disorders (Crowe 2008). The Guthrie test comprised of pricking a baby’s heel at second day after birth. This test was not as popular in UK as in USA until the 1970s. The test detected high serum levels of phenylalanine due the deficiency of the enzyme required for its conversion. In 1968, a set of rules and regulations were put forward by the World Health Organization (WHO) for a successful and effectual new born screening program. Wilson and Junger put forward a criterion that was supposed to be followed by before carrying out a new born screening program (Crowe 2008).These guideline principles were named as “Principles and Practices of Screening for Disease”. These principles focused on the importance of the disease that is to be screened, understanding of the disease’s natural history, a well-detected initial stage of disease, beneficial treatment strategies at an early stage of disease, acceptable and suitable test, resourceful health provision, least risks and adverse effects and cost-effectiveness of the test. With the set of 10 principles proposed by the World Health Organization, the new born screening program extended to the Asian countries. In 1983, sickle cell disease and in 1994, HIV infection were introduced as a compulsory screening procedure in the new-borns. In 1984, two other highly prevalent diseases were added to the screening program; Cretinism in 1979 and neuroblastoma in 1984. (Dave & Das 2010). The hip instability was first noticed by Roser in 1879 while Ortolani was the person who introduced a test in 1937 for checking instability. In 1957, Von Rosen introduced a common and routine examination of the babies for screening this instability problem. Barlow in 1962 exhibited the significant incidence of hip instability in neonates of 1 in 60. (Benson et all 2010) New born Screening has now developed in the light of the recent advancements in technology and better understanding of rare genetic and metabolic diseases and their diagnosis, treatment and management. In 2000, the Council of Regional Networks for Genetic Services introduced a screening system that consisted of five essential parts for ensuring effective results. These consisted of screening, follow-up, diagnosis, management and evaluation. With the screening tests performed, they are confirmed in the follow-up procedure to ensure their positive outcome. Then for an authentic diagnosis they are forwarded to the baby’s paediatrician where the disease is managed and evaluated. Tandem Mass spectrometry is a first class technique for analysing the blood spot samples. With this technology, around forty disorders can be detected at the same time and only few disorders require separate screening tests (Crowe 2008). The UK National Screening program centre was established in 2000 and its main goal was to promote the health of the infants through a guided screening tests routine and examination of the newborn. (U.K. National Screening Program Centre 2005) This committee provides the Newborn and Infant Physical Examination Standards and Competencies document which explains the standards of performing the examination on the neonates. Steps are taken by the NHS that not only the health professionals but also the mid-wives performing the examination procedures should perform high-quality and standardized procedures. These standards emphasize on the general physical examination immediately after birth along with blood screening tests. Cardiovascular and respiratory systems should also be assessed and the male testes are to be examined. (Lomax 2011) The involvement of current political leadership plays a vital role in making the new born screening programs accessible to the people at every level. They are responsible for formulating resourceful policies and funding the programs, hence enabling the programs to be effectual. Responsibilities are shared at every government level and also by the non-government organizations. The political support also directly or indirectly enables the economic and social factors included in the new born screening program. Many reforms and policies have been introduced by the government to improve this sector of public health. Apart from financial support and accessibility, political forces also play an important role in providing this new born screening system available to all.“Health for All by the Year 2000” and Alma Ata were two significant reforms introduced by the nations across the world, to establish equity in health services (Tulchinsky&Varavikova2009). Policy making relating to new born screening is crucial for a systematic and effectual program. Both the state and federal government share their role in this area. The federal government has a lesser involvement, and only assists the state governments financially for the research work and the expenditure required for the screening tests. It also ensures that the screening laboratories are well-regulated and come up to the decided standards. An “Advisory Committee on Heritable Disorders in New-borns and Children” works on searching and investigating the effects of screening in different sectors. The federal government is also responsible for approving any kind of new test or advancement made in the new born screening program. The state government has more freedom when it comes to new born screening. It has the power to choose the tests allowed to be performed within its authority. They provide availability of the tests to every new born in their jurisdiction, provision of confidentiality related to tests and genetic information and educating the parents about the screening tests. (Crowe 2008; Baily 2008). With new born screening there comes a set of ethical principles that should be followed. One important aspect is parental consent. Since new born screening is not yet mandatory, it depends on the parents to give permission for the screening tests. In some places, parent consent is achieved through legal forms. However, places where new born screening is mandatory, this issue does not arise. In many cases, parental consent procedures are quite vague and there is no information in black and white (Kerruish& Robertson 2004). Privacy is another issue that is to be considered when it comes to the ethical issues of new born screening. Genetics of an individual are extremely personal and he has every right to keep it confidential. Hence, the parents should be assured that the genetic information and screening results will be kept private(Killewo et al 2010).Some hospitals also offer the choice to skip the screening procedure, in spite of its being mandatory, if it interferes or abuses the parent’s religious views and opinions in one way or another. An important question arises over here, that if the parents refuse their child from being tested, they are depriving their child from a right to be treated and managed early in case of a positive disease, hence are the parents’ rights more worthy than the child’s? Another issue that might arise is the sighting of false parenthood, which might turn out to be controversial. Certain diseases are common in a particular type of ethnic group or nationality, and pointing out this matter while new born screening can harm the self-esteem of the parents (Lashley 2007).Expenses involved in screening are another ethical issue. Some believe it is of no significance compared to its cause; however some believe cost holds an important value. Policies should be designed keeping the cost of the resources and the procedures in mind (Baily 2008). Another issue related to new born screening is that it might cause a breach in the relationship between a child and his parents. The guilt experienced by the parents and their changed behavior also affects the new born at a stage of his/her life. The child can undergo psychological damage because of his/her parent’s behaviour and low self-esteem after realization of his/her disease. Another social affect experienced by the positively screened new-borns can emerge at later stages of their lives. New-borns detected with diseases like thalassemia, sickle cell disorder or muscular dystrophy is treated differently by their peers and family later on. If they are detected as carriers, in certain rural areas they are treated as “untouchables”. They have a difficulty making friends, finding jobs or getting married (Lashley 2007). The economic importance of new born screening is very far-fetched. If a disease is detected at its early stages it prevents the expenditure and care required on a lifelong basis. The screening process requires expenses for every minor or major procedure; from the collection of blood samples to treatment costs of the new born at a discounted rate. The lifelong expenses involve the special education costs, housing care, foster care and care at the institutions. With effective new born screening all the future expenses can be saved along with ensuring the health of the babies at an initial stage. Every measure should be taken to provide effective new born screening to the low and middle-income people of the society, ensuring health for all (World Health Organization2006). The UK New Born Screening Centre (NSC) was made in the year 2002 and works in collaboration with the National Health Services (NHS). This centre is supported by the Department of Health of England and works in providing standardized new born screening procedures and policies all over the UK. The NSC has established some screening tests for congenital metabolic, genetic or endocrinological disturbances which include sickle cell disorder, congenital hypothyroidism, thalassemia, phenylketonuria, cystic fibrosis and other abnormalities. The NHS Sickle Cell and Thalassemia Screening Programmeworks hand in hand with the NSC(U.K. National Screening Program Centre 2005). NHS has made efforts since the inauguration of the New Born Screening Program to reduce the mortality rate in new-borns due to genetic or metabolic disorders. The blood spot test or the “heel prick” screening test is a part of the NHS new born screening program and has been applied to an estimate of 300 babies a year since 2006. Not just that, this Programme also promotes the education and awareness of the health professionals regarding the new born screening tests and their importance. Since 2001, new training and education routines and programs have also been introduced to facilitate the new born screening tests. Hence the NHS is trying its best through the new born Screening Programme to control the complications related to congenital disorders and hence saving the costs in a long run. The Programme is also working for making the clinical set-ups and the screening procedures available and accessible to every citizen, regardless of their financial status. The Programme has provided professional help to the public at three different levels of specialties. These include mid wives, public health consultants, counsellors for at-risk-couples and specialists(Barron et al 2008). The NHS Screening Committee organizes and makes sure that the NHS Newborn & Infant Physical Examination program provides professional examination routines to every baby. Moreover, health professionals working under the NHS hospital trusts also are entitled to perform this routine. (Newbornphysical.screening.nhs.uk 2012) A new born requires intensive care and prolonged monitoring as soon as he/she enters this world. Nurses play an important role in handling, nurturing, examining and assessing the new born. A nurse has to perform the quick examination of a baby checking for vital signs, any physical deformity, skin changes and other initial standard procedures. The initial assessment is made immediately at the place of birth where small signs or symptoms are checked like cyanosis, chest retractions, breathing problems, body posture, size of the baby and abnormal heart rates. A nurse plays an important role in assisting in the new born screening tests performed within the first two days of life. Introduced in 1952 by Dr.Virgina Apgar, APGAR scoring is another important test where appearance of the baby, pulse rate, grimace, activity of muscles and respiratory rates are assessed.(Ricci & Kyle 2009) The specific examination tests carried out by the health professional include heart assessment. 1 in 200 babies in UK have heart problems hence this test is of critical importance. Hip assessment is another step where the hip joints and any malformation is checked as it can lead to a permanent disability later on. An estimate of 2 in 1,000 babies suffers from this deformity. (Newbornphysical.screening.nhs.uk 2012) Barlow’s and Ortolani’s tests are used to check hip stability and joint symmetry. (Lomax 2012) Eyes are screened for normal movements and appearance with an ophthalmoscope by a nurse. Red reflex is examined in this test. In male newborns, testes are checked for their normal position and appearance. Descent of testes in scrotum is a very important feature which might take a time period of one year after birth and this should be assessed in the follow-ups. (Newbornphysical.screening.nhs.uk 2012) A nurse has to make sure that the screening tests are performed within the 24 hours of birth which requires a blood sample taken from pricking the heel of the baby. Being aware of the tests performed as a routine in a particular place, according to their prevalence, it is the duty of the nurse to educate the parents about these tests and their importance. Apart from knowing the exact procedures, she also has to ensure that each test is performed within the required time period and samples are sent for testing within a day of its collection. Nurses play a vital role in minimizing the conditions which can cause a false positive result so that the parents are relieved of any stress or extra-expenditures. Hearing screening tests are also performed other than the metabolic and inborn genetic screening tests. If hearing is not assessed at the right time, the child develops speech and language disturbances as he/she grows up. Responses towards noises and conversations are checked in the newborn hearing screening tests.(Ricci &Kyle 2009). Another important protocol for the new born screening is to maintain the standard environment for the test, which is a responsibility of a nurse to a great extent. She has to follow the systematic procedures throughout the screening process. It starts with entering the exact and correct data about the new born and his/her paediatrician in the personal data form. Then take care of the hygiene and sterility of the equipment. This is followed by the correct performance of the heel prick test and collection of the second drop of blood with a clean filter paper. The results should be correctly entered and confirmed that there is no mismatching or incorrect entries. (Bowden & Greenberg 2011) As stated by the Standard and Competencies document put forward by the UK Nation Screening Committee Newborn & Infant Physical Examination it is compulsory that the examination of the neonate should be complete within 24 hours and maximum 72 hours of birth. And all babies have the right to be screened before discharge. The nurses are not only responsible for performing the tests, they also have to make sure that all the ethical, legal and official matters are handled with care and completely. If a new born is transferred to any other medical centre without performing the screening tests and examination it is the responsibility of the nurse to prepare a “Hospital Report of New born Specimen Not Obtained” paper and transferred to the higher authorities. Moreover, a “New born Screening Test Refusal” from should also be prepared and signed by the parents who refuse to carry out the screening procedures. A registered Nurse should always obtain a consent from the parents and later they should be completely educated about the risks and benefits of the screening tests. Proper collection, transportation, data entry and avoidance of any harmful circumstances all come under the role of a Nurse. Documentation of the infant’s response to the tests, completion of the tests and results of tests is a very important legal official procedure that the nurse has to perform (Bowden& Greenberg 2011). Another important aspect that the nurses have to be extremely careful about is maintaining the privacy of the patients; hence the information entered in computers or data banks should not be too obvious making the patient’s information public (Lashley 2007). Screening of new-borns helps in detecting the rare and asymptomatic diseases, that would otherwise be neglected and manifest at a later stage of life with critical deformities. Screening tests are formulated according to the diseases that are highly prevalent in their society. These diseases are a major cause of morbidity and mortality in their jurisdiction. New born screening has proved its effectiveness in controlling certain diseases like congenital hypothyroidism, thalassemia, sickle cell and phenylketonuria (Killewo et al 2010).Studies have proved that hip dysplasia which causes hip instability in newborns is 1%-3% in UK. A range of 29% adults undergo hip replacements when they are 60 years old. This problem is quite disabling and if screened effectively through radiography and neonatal examination, the delays in management and diagnosis can be controlled. (Sewell et all 2009) Screening for congenital heart defects in newborns has showed over an 8-year period that half of the neonates who were affected with congenital defects were missed in the initial screening procedures. Therefore if a negative result is given, the possibilities should not be ruled out. Moreover the midwives and the advanced neonatal nurse practitioners (ANNPs) introduced for this procedure were observed and they showed an equal expertise as compared to the senior house officers (SHOs). New strategies to overcome the limitations in the clinical screening were introduced like pulse oximetry and screening echocardiography. (Knowles et all 2005) Screening all the babies for the prevalent disorders is cost-effective as it does not appear as a burden financially. The early treatments prevent mental retardation, growth deformities and haematological disturbances in the children. There are some limitations or difficulties that arise with new born screening tests. The PKU test is not completely reliable and may give false-positive results. The screening for congenital hypothyroidism does not give a confirmed positive result as the babies who are negative may develop the disease after two or three weeks of their life (U.K. National Screening Program Centre 2005). Nonetheless, the limitations are few and the benefits are more, making new born screening effective and beneficial in every part of the world. Bibliography BAILY (2008).Newborn Screening.[online] The Hastings Center. Publications Bioethics Briefing Book. Available at: [Accessed 29 December 2011] BARRON &HOUSE OF COMMONS HEALTH COMMITTEEGREAT BRITAIN. (2008). Health inequalities: written evidence. London, TSO. BOWDEN, V. R., & GREENBERG, C. S. 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