Newborn screening

was initially used to make or confirm a diagnosis of a genetic condition, and to screen newborns for conditions such as phenylketonuria (PKU), so that early interventions and treatments could be administered. The screening of these genetic diseases led to appropriate assessment of the problem and assurance to the affected which are two of the core public health principles. Currently, an example of genetic screening for familial hypercholesterolemia which came up in the 2000s is…

Obviously, a screening is more time and money efficient. According to the article, “Clinical Practice Guidelines: Early Detection of Developmental Dysplasia of the Hip,” written by a large group of people, mainly pedestrians, gives a few facts and statistics about DDH and who is at risk: DDH is not always detectable at birth, but some newborn screening surveys suggest and incidence as high as 1 in 100 newborns with evidence of instability, and 1 to 1.5 cases of dislocation per 1000 newborns.…

genetic engineering in humans. Genetic screening is defined as an assessment of an individual 's genetic makeup to detect inheritable defects that may be transmitted to offspring. There are many moral and ethical barriers for genetic screening; barriers such as pushing society toward "designer babies," or if a baby is said to have a certain genetic defect is it appropriate to terminate their pregnancy? Another barrier for genetic screening is that, genetic screening and "designer babies" would…

Congenital hypothyroidism is when newborns have an insufficient amount of thyroid hormones. Thyroid hormones are an important part of life. They involve the CNS system, cardiovascular system, reproductive system, appropriate growth/development, and metabolism. According to Agrawal (2015), “Congenital hypothyroidism (CH) is the most common congenital endocrine disorder in childhood and is also one of the most preventable causes of mental retardation.” This disorder is difficult to diagnose…

an undergraduate student I majored in SLHS, did research with professors and continued on in volunteering in audiology clinics. These experiences had driven me into becoming a hearing screening and further my interest in audiology. Firstly, as a Newborn Hearing Screener, I perform newborn hearing test on newborns within the first 24 to 48 hours of birth. The test procedure that is used is an Automated ABR (Auditory Brainstem Response) that measures the brain nerve responds to sound. A click…

roles and responsibilities of an Audiologist that were performed in this practical block include assessment and identification, as well as prevention and education. The audiologist supervised and conducted newborn and infant hearing screening during this practical block. There was also the screening of speech-language for the initial identification of patients with other communication disorders. This was done in the follow up clinic using the Rossetti Infant Toddler Language Scale. With…

birth. Patients with cystic fibrosis have a higher level of salt inside their sweat, so parents can often taste the salt when they kiss their children. Most other symptoms affect the respiratory system or digestive system, but all U.S. states screen newborns; therefore, if a child has cystic fibrosis, the parent will most likely find out right away. Some of the symptoms that can be experienced later in the process of cystic fibrosis include: coughing up thick mucus, getting sinus infections,…

Introduction Genetic screening is a form of medical test that determines alterations in chromosomes, proteins or genes. The findings of genetic testing can reject or confirm suspected genetic condition or aid in identifying individual’s chance of passing or developing a genetic disorder. Currently, over one thousand genetic tests are in use, and more are emerging. Various methods can perform the genetic screening. For example, (1) Biochemical genetic tests which study the activity level or…

Pulse oximetry is a noninvasive procedure that is used to measure the oxygen saturation level of the newborn (Pillitteri & Pillitteri, 2013). The device used in pulse oximetry readings contains two diodes that release equal concentrations of red and infrared light concurrently into the tissue bed the electrode is secured (WHO, 2011). The reading that is displayed is the proportion of reduced hemoglobin and oxygenated blood that is calculated and displayed indicating the oxygen concentration…

predispositions or possible genetic abnormalities with a simple blood test or swab of a cheek. These tests range from prenatal, to newborns, to adults. Some tests are done out of curiosity, and others are advised by medical professionals due to family or background history of a particular condition. Many people have strong opinions about the ethical side of these tests and screenings. Genetic testing should not be used to diagnose nor make medical decisions because it is not accurate and invades…