Phenylketonuria and Neonatal Screening

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Table of Contents

Guthrie Neonatal Screening
Phenylketonuria
Recommendations for Intervention
Impacts of Genetic and Prenatal Technology on Health
High-Tech Neonatal Intensive Care Units (ICUs)
Multicultural Considerations
References

Guthrie Neonatal Screening

Robert Guthrie first suggested one of the earliest methods for the identification of phenylketonuria in neonates in the 1960s and, since then, Guthrie screening became one of the most commonly used techniques of early health evaluation used in the National Healthcare Programs worldwide. Guthrie neonatal screening is conducted through the analysis of the blood sample collected through the pinprick puncture in a heel of an infant and soaked into a specifically designed sample card (Blau, Van Spronsen, & Levy, 2010).

The examination of the newborns blood samples helps to examine the amount of phenylalanine contained in the organism, and the excess level of this vital element indicates the development of the metabolic disorder. The screening procedures are usually conducted within the first days after birth, and the early assessment proved to be effective in the identification of almost every case of phenylketonuria. The false assessment outcomes can be easily corrected by repeating the test at the later developmental stages because it is observed that the level of phenylalanine in the exposed children gradually increases within a week (Van Sprosen & Enn, 2010).

Therefore, it is possible to say that the time of Guthrie screening completion may significantly affect the accuracy of assessment results, and it is suggested to examine the infants after the second day of their postpartum development.

Phenylketonuria

Phenylketonuria is a genetic disorder provoked by the inherent defects in phenylalanine metabolism that can provoke cognitive underdevelopment and mental retardation (Van Sprosen & Enn, 2010). It is observed that phenylketonuria occurs in 1 per 10-14 thousand children, and about one-sixth of the individuals carry the pathologic gene. Every day, 74 infants are diagnosed with phenylketonuria (U.S. National Library of Medicine, 2016).

Phenylalanine plays an essential role in protein synthesis, but the excess amounts of the amino acid in the organism cause the metabolic block that leads to the accumulation of toxic elements in the body. These toxic derivates affect the central nervous system and provoke the protein metabolism that interferes with the development of brain structure (Blau et al., 2010). The researchers suggest that this mechanism may be a reason for the consequent progressive mental and intellectual retardation (Van Sprosen & Enn, 2010).

Along with the mental retardation, which can become manifested approximately in the fourth month of infancy, the disorder invokes some physiological symptoms such as skin lesions and seizures (Blau et al., 2010). Phenylketonuria has many medical complications, but the early diagnosis and the optimal treatment that includes dietary intervention help to prevent developmental delays. Thus, the implementation of Guthrie screening procedures can help to avoid adverse outcomes.

Recommendations for Intervention

The treatment of the disorder and the prevention of cognitive underdevelopment is based on the dietary intervention that is meant to limit the intake of phenylalanine with food. Phenylalanine is an important amino acid, which takes part in protein synthesis, the supply of this element with food is vital for every human being (Van Sprosen & Enn, 2010). But the excess level of the element in the blood is toxic, and regular monitoring of the childs blood composition is required.

Thus, the parents of a child with phenylketonuria need to control the amount of phenylalanine intake in a way to maintain the normal growth and development and avoid the accumulation of phenylalanine and the products of its metabolism in the organism of an infant because, otherwise, its cognitive and intellectual functioning will become impaired. The neurocognitive impairment caused by the disorder is irreversible, and the efficiency of the intervention depends on the rapid response to the manifested symptoms.

Since infancy, patients with the disorder need to intake phenylalanine-free products for the replacement of maternal milk (Blau et al., 2010). As the child grows older, he/she should adhere to a low-protein diet and avoid food containing aspartame, flour, soya, etc. The findings in the recent studies demonstrate that the dietary intervention is effective in the normalization of phenylalanine level and the consequent intoxication of the organism that is perceived as a potential cause of the neurocognitive impairments and biochemical imbalance in the patients (Van Sprosen & Enn, 2010).

Impacts of Genetic and Prenatal Technology on Health

Along with the neonatal assessments, the advanced genetic and prenatal tests allow finding the developmental abnormalities in the fetus. In a span of a few decades, the researchers obtained a large amount of information about genetic diseases and human health. The expansion of knowledge in the field of genetics assisted in the elaboration of new innovative technologies that now allow women to receive the early prenatal diagnosis.

The advanced genetic testing became safer, and through the implementation of multiple non-invasive screening techniques, it became possible to examine the fetus DNA and predict developmental outcomes with a high level of accuracy (Farrell, 2013).

Similar to the early neonatal assessments, prenatal screening provides many advantages for the improvement of the infants health conditions. In comparison to the invasive genetic technologies, such as chorionic villus sampling and amniocentesis, the non-invasive technologies are primarily based on the maternal blood analysis and cause less physical and psychological stress to a mother and, in this way, they are associated with a lesser risk of provoking a negative impact on the infants health (Farrell, 2013).

The safety and easiness of the modern prenatal tests increase their accessibility, and many women thus have an opportunity to predict their infants health conditions and undertake the measures to prevent negative pregnancy outcomes in a timely manner. It is observed that women become more interested in the non-invasive testing procedures, and many families express willingness to undergo the prenatal analysis for an increasing number of health conditions unrelated to the genetic disorders (Farrell, 2013).

However, there is some uncertainty about the benefits and harms of genetic and prenatal technology implementation. The ethical and social concerns about implications of genetic testing or influence of genetic information on the pregnancy outcomes and prenatal decision-making are worth consideration as they provoke many controversies. But, at the same time, the non-invasive prenatal technologies, their availability, and lack of significant harmful effects on the health of mothers and infants provide many medical and diagnostic advantages. With the advanced genetic and prenatal technologies, there appeared more opportunities for the improvement of health conditions and quality of the infants life.

High-Tech Neonatal Intensive Care Units (ICUs)

HICU is another form of neonatal treatment for the premature infants of neonates with severe congenital or genetic abnormalities. Nowadays, HICU is among the most expensive medical procedures in the USA, and its costs can exceed over $300.000 per child (Lantos & Meadow, 2011). The high costs of specialized neonatal care are the core aspect invoking multiple ethical concerns related to the factors of HICUs accessibility and survival rates.

Many people dispute the effectiveness and usefulness of HICUs due to high rates of neonates deaths. Prematurity and congenital abnormalities are the common causes of neonatal deaths, and the lethal outcome can occur even after the completion of the intensive care course. Nevertheless, despite its high costs and low neonatal survival levels, HICUs are still among the most cost-effective intensive care treatment practices (Lantos & Meadow, 2011). The intensive neonatal interventions are important because they provide the opportunity for the improvement of health condition especially in patients whose disorders can be resolved in a shorter period.

The parents may experience many difficulties in caring for newborns with serious health issues, and their decision on care may be influenced by socioeconomic and cultural factors. High costs of HICU treatment significantly reduce the availability of the service for the lower-income socioeconomic groups who cannot have an opportunity to maintain the life functions of a child in a critical condition without governmental financial support.

The lack of social and family support may incline parents to refuse to care for a child as well. Decision-making in similar cases is usually influenced by several factors such as psychosocial, socioeconomic, medical, and personal ones. Psychosocial factors are those related to the stress of becoming parents and feeling responsible for the well-being of an infant. The strain is worsened if a child has serious health concerns such as phenylketonuria. Medical factors include attitudes to medical treatment and various tests and screenings, which would be necessary while taking care of an infant. Socioeconomic factors are determined by the socioeconomic status of a family, i.e. the level of parents incomes and the welfare of the family unit.

Finally, personal factors are a combination of personal experience and perceived knowledge. They cover all beliefs from medical issues to bringing up children (Lipstein et al., 2010; Nicolls & Southern, 2013). So, it is possible to say that the decision can be affected by the combinations of these factors. However, the most significant factors are personal ones because they determine the perception of the situation and socioeconomic factors because of HICUs expensiveness.

Multicultural Considerations

Different cultural and social aspects of an individuals life may significantly affect the process of decision making related to prenatal and neonatal assessments. While counseling a patient, it is important to comply with the principles of informed consent, avoidance of harm and discrimination, privacy, and confidentiality (Potter et al., 2008). It is important to take the interests of the patients into account because, in this way, it will be possible to give a relevant recommendation that will be accepted by a person.

The perception of the harms and benefits of prenatal and neonatal assessment can significantly vary in different individuals. The consideration of the linguistic and cultural differences ensures that a person will receive the provided information well, will understand it, and will make a reasonable choice based on personal values and beliefs. Cultural sensitivity is essential for compliance with the principles of fairness and beneficence because it ensures equality in the provision of information and offering screening procedures. That said, it is vital to bear in mind the cultural factors affecting decision-making.

For example, some cultures do not recognize a womans right to making vital decisions, so that all significant decisions are made by men. Other cultures do not trust conventional medicine or promote belief in destiny. For example, indigenous Mexican Americans believe that any health concern is a punishment for sins. So, if an infant is ill, God might be punishing his/her parents. The same can be said about Muslims, who believe that everything happens for a reason and was predetermined by Allah. So, these factors should be taken into consideration when working with parents of children, who suffer from phenylketonuria.

References

Blau, N., Van Spronsen, F., & Levy, L. (2010). Phenylketonuria. The Lancet, 376(9750), 1417-1427. Web.

Farrell, R. M. (2013). Symposium: Women and prenatal genetic testing in the 21st century. Health Matrix: Journal of Law-Medicine, 23(1), 1-13.

Lantos, J. D., & Meadow, W. L. (2011). Costs and End-of-Life Care in the NICU: Lessons for the MICU? Journal of Law, Medicine & Ethics, 39(2), 194-200 7p. Web.

Lipstein, E. A., Nabi, E., Perrin, J. M., Luff, D., Browning, M. F., & Kuhlthau, K. A. (2010). Parents decision-making in newborns screening: Opinion, choices, and information needs. Pediatrics, 126(4), 696-704.

Nicolls, S. G., & Southern, K. W. (2013). Parental decision-making and acceptance of newborn bloodspot screening: An exploratory study. PlOs One, 8(11), 1-10.

Potter, B. K., Avard, D., Entwistle, V., Kennedy, C., Chakraborty, P., Mcguire, M., & Wilson, B. J. (2008). Ethical, legal, and social issues in health technology assessment for Prenatal/Preconceptional and newborn screening: A workshop report. Community Genetics, 12(1), 4-10. Web.

U.S. National Library of Medicine. (2016). Phenylketonuria. Web.

Van Spronsen, F. J., & Enns, G. M. (2010). Future treatment strategies in phenylketonuria. Molecular Genetics and Metabolism 99(Supplement 1), S90-S95. Web.

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