Newborn screening

problems and/or eating difficulties, eyes tend to dry out, which can lead to infection, some children have abnormally small or absent thumbs, and cleft palate often occurs with TCS (“What is Treacher Collins,” 2015). Test Battery Since a newborn hearing screening could not be completed, the child needs to be referred for a diagnostic audiology evaluation, which will include several test batteries and stakeholders throughout the child’s early life. Recommendations from JCIH ("Year 2007 Position…

For many years, researchers have been searching to find a cure for the life-threatening disease, Cystic Fibrosis (CF). Most children are diagnosed around birth from the newborn screening, therefore, this disease takes a toll on the hundreds of children and their families. Families struggle over the stress, emotions and financial problems of caring for children with Cystic Fibrosis. There is still no cure, but patients diagnosed with this dreadful disease are given ways to help proceed with…

happier everyday. Many people do not realize the impact pediatric nurses have on the lives of children and the struggles a pediatric nurse endures daily. “Pediatric nurses work with patients from infancy to young adulthood, giving developmental screenings, immunizations, and treating common illnesses. They work closely with family doctors, pediatricians and other nurses, to provide preventative as well as critical care. As a Pediatric Nurse, you’ll also teach your patients’ parents and family…

Looking at Karl White the Eugenics Plague Doctor, the first thing that stood out to me is the grim appearance of the plague doctors. I remember learning a little bit about plague doctors of the Black Death in high school history classes, but I would have never imagined them to look like that. At first glance, they resemble someone who would practice black magic rather than the art of healing. From reading the preface of the artwork, these plague doctors are described as opportunistic quack…

cell from an embryo created through In Vitro fertilization, or IVF, to test for specific genetic conditions before transferring the chosen embryo to the uterus. Should eugenic techniques like PDGS or preimplantation genetic diagnosis and selection, screening and choosing embryos for diseases prior to implanting them into a woman seeking pregnancy, be allowed…

While providing care for Sari a number of clinical management issues arise. Firstly, Sari’s pregnancy was conceived through intrauterine insemination (IUI), risks associated with artificial reproductive technologies were likely reviewed with Sari and Jane prior to intervention . It is important that the midwife be aware of potential risks associated with this method of conception and able to review these with Sari and Jane if they have questions. IUI can include increased risks of preterm birth,…

of the pros of having a law that requires mandatory genetic screening of both parents in preparation of having children or if the parents give birth to a child with genetic disorder include: • Detect susceptibility to a genetic disorder • Reduce medical cost through prevention • Genetic test results can help parents make decisions about having children or terminate a pregnancy • Promptly diagnose of existing genetic disease • Newborns and their families with an identified genetic disorder will…

There are over a thousand genetic diseases around the world, and Sickle Cell Disease (SCD) is one of those thousand. SCD affects seventy thousand to eighty thousand Americans. “Estimated one in five hundred African Americans and one in one thousand to one thousand four hundred Hispanic Americans have inherited SCD,” (Sickle Cell Disease.) Sickle Cell Disease is inherited by the parents, has symptoms, affects the body, and can be treated. “SCD is inherited in autosomal recessive,” (Single Gene…

The medical laboratory is a staple of any hospital or clinic and is essential in providing accurate results for the patient. Blood banking is of particular importance because of its direct tie to helping patients. There are a number of tests that must be performed on blood, and the clinic as a whole would not be able to function without them. In the laboratory, there are certain tests that must be performed on all donated blood. Blood typing is done to determine the donor’s ABO blood group and…

in favor or against the institution of genetic testing. Some of the benefits of genetic testing include assisting doctors in making healthcare decisions, providing patients with clarity for an illness that would otherwise go undiagnosed, and screening newborn babies for specific diseases or mutations. Despite its benefits, however, there is a plethora of complications that accompany genetic testing. Preimplantation Genetic Diagnosis, potential discrimination, and unnecessary anxiety and even…