Newborn screening

Impacts of Genetic Screening For Parents Genetic screening is defined as "any kind of test performed for the systematic early detection or exclusion of a hereditary disease, the preposition to such a disease or to determine whether a person carries a predisposition that may produce a hereditary disease in offspring." (Godard, Beatrice et al.) Genetic screening is commonly performed for reasons associated with fertility and pregnancy, and, being a relatively new frontier in genetic research,…

ultimate goal of universal newborn hearing screening (UNHS) is to detect hearing loss early in order to treat hearing loss sooner, preventing a delay in children’s overall development (NIH, 1993). Language development is positively and significantly affected by the age of identification. Previously, early identification was predominantly defined as “prior to 18 months” or “prior to 30 months” of age, and no studies of developmental outcomes of infants identified in the newborn period had been…

What is genetic testing? Genetic testing is a scientific and medical testing where scientists (change scientists to something else) identify for changes in a person’s genes, chromosomes or protein. It is considered when someone wants to identify health risks, allowing the doctor to make recommendations to their health and decrease their chance in developing the certain disease, or to test to see if the person has other genetic conditions, which would impact their chance of passing on or…

Hospital policy requires meconium testing for all newborns who are suspected of being substance exposed in utero. Substance exposure in utero is of serious concern and is associated with significant perinatal complications for mother and child. In the past, maternal interviews were the primary source of substance use during pregnancy. Maternal interviews can provide health care professionals with critical information although they can be misleading. Not all substance using mothers will willingly…

this study was to evaluate the impact of routine early pulse oximetry screening (POS) on the rate of unexpected neonatal unit admissions and the need for echocardiography. The study also reviewed the outcomes of babies admitted to the level 3 NICU as a result of a positive POS testing. What is known prior to the study is that some cardiac defects are missed by antenatal ultrasound and routine clinical examination in the newborn period. Also, early detection of such anomalies can improve…

There is a great need for a practicable systematic screening test with high sensitivity in order to reduce the missing cases of CH specialy in preterm infants. Evidently pre-term and low birth weight infants require special cares and follow ups.10,11.In this review we try to sytematiclly review previous works in this field and provide a comprehensive protocol for screening of these high risk neonates. Up to this date, a few approaches have been introduced in order to reach this goal. One is…

sickle cell trait it means that they only carry one defective gene, and would live a normal life. In order for the sickle cell to be anemia the individual would have to have one defective gene from the mother and the other from the father. Every newborn in the United States undergoes a mandatory test that screens them for metabolic, endocrine, and hematological conditions. Since the adoption of this mandatory practice in 1980 it has identified many sickle cell carriers (Ross, 2010). In the…

public awareness towards Phenylketonuria can help lead to further research in hopes of medical advancements and encourage newborn screening in under developed countries. Abbreviations: PHE, Phenylalanine; PAH, Phenylalanine Hydrolase; PKU, Phenylketonuria Keywords: Phenylanine Phenylketonuria The genetic disorder Phenylketonuria effects approximately 1 in 10,000 to 15,000 newborns annually in the United States…

The purpose of this paper is to revisit previous literature addressing universal newborn hearing screening (UNHS), review current practices of UNHS, evaluate the factors relating to UNHS, and identify areas for improvement. The importance of identifying hearing loss before 3 months, and receiving intervention by 6 months of age, relates to children’s speech, language, academic, and social-emotional development. Not only does early diagnosis allow for optimal speech and language development, it…

A major benefit from this new technology is the reduction in mortality of newborns in India and around the world. In addition, neonatal screenings provide new information to those researching this disease. However, while there are many pros from this technology, there are also many cons present. There is still a great lack of information present in both the United…