The Significance of Newborn Screening Review Essay

The importance of newborn screening is enormous because this health program assists healthcare professionals in the process of identification and prevention of numerous health-threatening diseases, pathologies, and other health defects. With help of newborn screening experts in the sphere of healthcare can obtain valuable data where further testing should be recommended. The given paper aims to determine and assess the significance of newborn screening, review statistics in numerous countries, including the Middle East, and, finally, pay attention to serious newborn diseases. In addition, several effective methods of prevention of newborn diseases will be reviewed and evaluated.

Taking into consideration the definition of newborn screening, it is rather important to note that this health program is primarily purposed to screen infants after their birth in order to diagnose serious health problems. The researchers claim that this procedure should be conducted shortly after the birth of children, because it increases the chances either to treat or prevent health defects (CDC, 2014). Besides, high quality newborn screening may prevent sudden death of infant. It is rather important to emphasize the fact that these screening programs are not mandatory on the territories of many countries. Unfortunately, nowadays too many children suffer from inborn birth defects, and that is why newborn screening can reduce the percentage of numerous diseases. Even if children look healthy, the researchers recommend parents to insist on newborn screening, because this procedure may save lives of children suffering from various diseases and defects. Thus, this procedure has already proven efficient, as it has saved thousands of newborn children around the globe from numerous fatal disorders, including inborn errors of metabolic processes, blood diseases, and other health problems (CDC, 2014).

Effectiveness of Screening Tests

According to the results of statistics, which include the information about effectiveness of screening tests in different countries, thousands of families around the globe, including those in the USA, Canada, European nations, and the Middle Eastern countries, refer to newborn screening with the purpose to decrease the morbidity and mortality rates among children. These procedures provide a chance for people to conduct effective genetic counselling as well as follow numerous preventive strategies (Ben-Omran, 2013).

According to the research results, Qatar is one of the first countries in the Arab world that has expanded newborn screening programs and tests on national, regional, and local levels (Ben-Omran, 2013). The government of this country encourages people to conduct newborn screening with the primary purposes to diagnose, provide treatment, and prevent endocrine disorders. For instance, between 2003 and 2012, more than 135 hundred thousands of neonates were screened on the territory of Qatar. Moreover, with help of these effective tests and techniques, medical professionals in Qatar have the opportunity to detect approximately 30 different diseases, including endocrine problems and inborn errors of metabolism. Besides, these newborn screening tests provide a chance to detect not only classic forms of inborn diseases and pathologies, but their rare variants as well. The results of recent reports state that the amount of newborn diseases is very large in the Middle East, as opposed to the Western world and many developed European countries (Ben-Omran, 2013). The researchers claim that many obstacles prevent governments of the Middle Eastern countries from implementing mandatory newborn screening programs. The most common obstacles include the absence of important technical structures, unavailability of funds and investments for global screening tests, considerably high birth rates, extremely low incomes, and, finally, insufficient numbers of trained physicians as well as the lack of specialized facilities (Ben-Omran, 2013).

According to the results provided by DACHDNC, the government of the USA recommends to screen newborns for numerous diseases. For instance, it is estimated that newborn screening can detect at least 31 health defects and inborn illnesses. Each year, millions of children on the territory of the USA are screened and, at the same time, diagnosed with numerous genetic defects, metabolic diseases, and endocrine problems. It is rather important to note the fact that in the USA newborn screening is considered an extremely visible and significant state-based program that was implemented in the early 1960s (Cordero et al, n. d.). R. Guthrie is the first person who successfully devised several screening tests and procedures for phenylketonuria, which is commonly referred to as PKU. This medical procedure was easily performed because of its simplicity, as it involved only a blood spot and a small filter paper card. During that period of time, approximately 150 million newborn children were screened with the primary purpose to diagnose and prevent significant genetic and congenital health defects (Cordero et al, n. d.). Taking into consideration scientific investigations of healthcare professionals, the majority of infants with metabolic and genetic health disorders look and behave normal at birth. However, with time, these diseases are progressing and, at the same time, becoming more visible to other people. Thus, numerous tests and screening procedures have been primarily designed in order to establish possible treatment and prevent irreversible damages to human body.

According to the estimations of the researchers, newborn screening system in the USA consists of numerous components that are closely intertwined (Cordero et al, n. d.).

• The first integral element of newborn screening is based on education of healthcare professionals as well as parents.
• According to the second component, newborn screening system involves such procedures as collection of specimen, submission, and, lastly, testing.
• After that, health care professionals have to differentiate and explain abnormal or unsatisfactory test results.
• The fourth stage of screening system includes mandatory confirmatory clinical procedures and establishment of accurate diagnosis according to the results of tests.
• Finally, the fifth and sixth phases of newborn screening systems involve such important procedures as quality assurance of medical tests, validity of procedures, estimations of short-term as well as long-term benefits of screening tests to children or their families, and many other significant procedures.

Taking into account the result of scientific researches provided by the National Newborn Screening and Genetics Resource Center, approximately 5 thousand out of 4 million infants are diagnosed with severe or even lethal pathologies or diseases that cannot be treated because of the absence of effective and influential cure (Cordero et al, n. d.). At the same time, newborn screening is recognized in the USA as one of the most effective programs that can reduce the percentage of newborn children with lethal pathologies to a minimum (Cordero et al, n. d.).

The government of the USA has issued specialized statutes or, in other words, regulations that bear the responsibility for quality of public health newborn screening tests and procedures. In simple words, each separate state in the USA determines either mandatory or voluntary nature of newborn screening procedures. At present, screening of infants is available in many forms on the territory of the USA. Thus, every family, regardless of its origin, area of residence, preferred language, intelligence rates, and religious options, have the opportunity to screen children for health disorders. The government of the USA makes successful attempts in order to ensure universal access to newborn screening procedures for all families that live on the territory of this country. However, one factor that impedes the access of people to screening tests is directly connected with comparatively high price of some screening tests. According to the statistical data provided by the Council of Responsible Genetics, approximately 98 % of infants that are born in the USA are screened for significant amounts of inherited health conditions that are usually stored in specialized state-operated databases (Cordero et al, n. d.). However, in recent years, the amount of screening tests has significantly expanded because of many reasons, including technological advancements. It is extremely important to pay attention to the specialized report that was issued by the American College of Medical Genetics in 2005. According to the main idea of this report, all states on the territory of the USA are encouraged by the governmental agencies of to ensure for citizens of the USA screening of 29 health conditions that are commonly classified as “core conditions” (Kilakkathi, 2012). The list of main health conditions involves such severe metabolic diseases and heath defects as propionic as well as isovaleric academia, maple syrus urine disease, sickle cell anemia, hearing problems, and many other health-threatening pathologies and health problems (Kilakkathi, 2012). In addition, secondary panel involves 25 serious health defects, including malonic acidemia, argininemia, and many others (Kilakkathi, 2012).

Therefore, the researchers provide convincing arguments that neonatal screening has been extremely popular on the territory of European countries for more than 50 years (Kilakkathi, 2012). In other words, neonatal screening is considered one of the most well-developed, financed, and governed health programs that provide assistance to families and entire communities to bring up healthy children. According to the research results provided by the European Union, the European Commission launched a specialized call for tender in order to determine and assess the efficiency of screening practices for extremely rare health problems (Kilakkathi, 2012).

Newborn Screening Tests

Nowadays, professionals in the sphere of healthcare differentiate several main screening tests, especially heel prick, infant hearing tests, physical examinations, and, finally, congenital heart defects screening (CDC, 2015). For instance, the neonatal heel prick, which is sometimes referred to as Guthrie test, is one on the most widespread screening tests that should be performed in order to minimize the possible risks of health-threatening diseases. It is rather important to note that this procedure is the simplest one, because it is based on a tiny pinprick puncture that is made on one heel of an infant in order to soak blood and take some samples that are important for conducting screening tests (CDC, 2015). This simple newborn screening procedure has justified its efficiency, because it is widely applied on the territory of many countries, including the USA, Canada, European states, and Middle Eastern countries in order to diagnose a significant variety of metabolic disorders, especially galactosemia, immunoreactive trypsinogen, sickle-cell defects, and many other health-threatening diseases and health disorders. Despite several controversies that are connected with the effectiveness of the neonatal heel prick, the researchers provide convincing arguments that this type of test is extremely widespread in the sphere of healthcare, because it provides accurate results in a short period of time, which usually take approximately five or six days (CDC, 2015).

Researchers in many countries recommend to combine heel prick with efficient hearing test. Moreover, they assure that ear examination is extremely important for newborn babies, as it measures the ability of different sounds to reach the brain of infants. At present, the majority of babies around the globe go through hearing screening shortly after birth at hospitals. It is rather important to note that not all infants successfully pass these hearing screening tests from the first time. However, parents should not worry, because it does not indicate the loss of hearing. That is why experts recommend to pass second screening in order to confirm the validity of experiments (CDC, 2015). In case a child fails to pass hearing screening for the second time, parents are recommended to visit pediatric audiologist in order to perform more thorough hearing tests. These additional hearing tests are usually called hearing evaluations. In general, doctors order parents not to delay hearing tests, because ignorance of parents may result in absolute hearing loss in the period that is equal to 14 months (CDC, 2015).

Moreover, in case parents avoid hearing screening, children may suffer from slowed development of language skills, cognitive abilities, and brain functions. According to the estimations of the Individuals with Disabilities Education Act, infants as well as toddles with some disabilities should be provided with high quality screening tests because absence of effective hearing tests and procedures may lead to dangerous and even lethal consequences. Thus, having determined and assessed the nature and basic characteristics of hearing screening, it is rather important to stress that this procedure is not only simple and painless, but cheap in comparison to other newborn screening procedures. In addition, hearing screening programs are sometimes called universal, because these simple medical procedures are set up with the purpose to test all newborn children without exceptions. The research result, provided by the World Health Organization (2009) propose that all infants should have their hearing tested before they come back home or, in other words, leave the hospital. In case children are born at home, their parents are obliged to ensure hearing screening tests to be done to their children in the period that does not exceed two months after the birth of a child. Effective and high quality hearing tests give parents the chance to prevent their newborn children from the loss of hearing abilities or other health-threatening defects (World Health Organization, 2009).

Physical examination of newborn children is no less important than hearing screening, heel prick, and other tests and procedures. The primary objective of newborn physical examination deals with assessment and prevention of numerous actual or potential health problems. Health care professionals give recommendations to parents to examine their children immediately after birth. Numerous factors, including detailed assessment of respiration, body temperature, and screening for dangerous anomalies, and other health problems, should be taken into consideration. The researchers claim that initial examination of newborn children should exclude excessive disturbances. Moreover, complete or, in other words, full examination should be conducted in case the child is quiet (CDC, 2015).

Finally, screening of newborn babies for critical congenital heart defects plays a significant role, as it provides the unique opportunity for health care professionals to diagnose numerous children with critical CHD before their parents take them away from the hospital (CDC, 2015). This type of screening gives an opportunity for newborn children to avoid severe disabilities and even lethal cases. It is extremely important to note the fact that in case children with undiagnosed critical CHD leave the hospital without effective treatment, they will probably face numerous dangerous health consequences, including cardiac collapse or even death within the first few days of life. The hearts of children diagnosed with critical CHD can stop functioning at any moment because of the lack of oxygen. According to the recent statistics provided by the Center for Disease Control and Prevention, for every 200 newborn babies with a critical CHD, one or two deaths may be prevented with help of efficient and high-quality screening techniques and procedures (CDC, 2015). Therefore, the cost of this medical procedure may vary, as it depends on numerous factors, including the number of births in that particular hospital, time of procedure, and the type and price of equipment that was used for screening (CDC, 2015).

The Most Common Types of Neonatal Diseases

Currently, the researchers in the sphere of genetics differentiate significant numbers of widespread neonatal diseases. Taking into consideration the results of statistics provided by the American Heart Association, approximately 8 out of 1000 newborn children on the territory of the USA suffer because of congenital heart defects that are considered to be the most common birth defects among children (Children’s National Medical Center, n. d.). The main causes of this disease have been unknown. In general, congenital heart defects are classified into several types, including excessive amounts of blood that passes through the lungs, little amounts of blood that does not give the chance to human body to receive oxygen, and, finally, underdeveloped chambers that prevent appropriate amounts of blood from travelling to a human body (Children’s National Medical Center, n. d.).

Apnea of prematurity is a term that is extensively used in the sphere of healthcare and denotes the absence of breathing for approximately 20 seconds or even more. Moreover, the most common symptoms of apnea of prematurity are as follows: extremely long periods of absent breathing, unnatural blue coloring of a human body, and considerable decrease in the heart rate (CDC, 2015). Such effective newborn screening tests as physical examination of a child as well as blood tests and detailed apnea studies are used to diagnose this health defect among newborn children (CDC, 2015).

Thalassemia is in list of dangerous blood disorders usually transmitted with the help of genes. This disease is characterized by insufficient amounts of red blood cells as well as decreased hemoglobin. Consequently, rapid progression of this health defect may result in improper transportation of oxygen to the body. Such common symptoms as iron overload, widened bones, decreased growth rates, and even serious heart problems may assist in diagnosing thalassemia. Finally, the researchers in the field of medical science stress the fact that digestive disorders, defects of nervous system, extremely low birth weight, and neonatal abstinence syndrome are very widespread and health-threatening newborn diseases among infants (CDC, 2015).

Cost-Effectiveness and Prevention of Neonatal Diseases

Extensive availability, cost-effectiveness, and high quality of genetic screening tests and procedures provide a chance for healthcare providers to save the lives of thousands of newborn children (Public Health & Research/Maternal & Child Health, 2011). Newborn baby screening is one of the first and, at the same time, the most reliable methods of preventing dangerous neonatal diseases. However, healthcare providers should follow numerous duties in order to ensure reliability of medical screening services. Firstly, it is rather important to emphasize the fact that different screening tests should correspond to the standard requirements and regulations (Public Health & Research/Maternal & Child Health, 2011). Furthermore, detailed physical examination of children, especially congenital heart disease screening, should be performed in accordance with the HAAD protocol. At the same time, according to the assumptions of psychologists and other healthcare experts, education and training of parents play a key role, as they have a right to either give consent or reject screening. Physical examination should be performed with the increased attention and, besides, should involve different parts of a human body, involving functioning of nervous system, face, ear, cardiovascular systems, limbs, and many other hereditary health defects. Health organizations have to monitor and control the quality and accuracy of screening procedures.

Benchmarking

In general, the majority of countries around the globe, including the USA and the UK, follow the rules and regulations of universal newborn screening programs. High quality of services, education materials, objective as well as well-developed physiological tests, and parental consent should be taken into consideration in every country around the globe (Public Health & Research/Maternal & Child Health, 2011). In addition, it is extremely important to note that many European, Middle Eastern, and Western countries have implemented strict measures in order to promote the significance of newborn screening. For instance, the National Screening Committee on the territory of the UK claims that newborn screening should be expanded and should include screening tests for several additional health disorders, including homocystinuria and serious urine diseases (CDC, 2015). Taking into account active participation of the USA in screening activities, it is rather important to stress that the National Newborn Screening and Global Resource Center is considered to be the main center on the territory of the USA that promotes newborn screening on international level (CDC, 2015). In addition, NNSGRC has been primarily created to ensure effective consultative services, trainings, and programs to parents and healthcare professionals (CDC, 2015). Thus, active participation of developed countries in the promotion of newborn screening positively impacts the proliferation of modern procedures and tests on regional, national, and global scale (CDC, 2015).

As a result, the significance of newborn screening in modern society, the results of statistics in the Middle East and other countries, and the most widespread types of newborn screening tests as well as newborn diseases have been reviewed. Thus, it is possible to infer that the role of newborn screening is enormous, because these tests provide accurate results about serious diseases connected with metabolism, brain functioning, blood disorders, and many other lethal health problems. In general, children should be screened before they leave hospitals. Blood tests, hearing screening procedures, and screening for CCHD are considered to be the most common types of screening procedures that are characterized by such features as simplicity, accuracy, improved health outcomes, and affordability. Numerous factors, including laws in different countries, financial costs of newborn screening tests, frequency of disorders, and availability of effective treatment influence the universal access of people to newborn screening procedures. However, at the moment, the global community is striving to provide all people with the opportunity to screen approximately 30 specific health conditions, as newborn screening detects serious diseases, estimates possible treatment, and, finally, drastically decreases mortality rates among children.