Newborn screening

than 1,800 young adults of Ashkenazi Jewish ancestry in the Baltimore and Washington, D.C., areas were voluntarily screened for carrier status. The success of the program demonstrated the efficacy of voluntary screening of an identifiable at-risk population. Within a few years, these screening programs had been repeated among Ashkenazi Jews throughout the United States, Canada, Western Europe, and Israel. Tay-Sachs disease has become a model for the prevention of all genetic diseases. In the…

Postnatal depression (PND) refers to symptoms of severe or prolonged depression that persist for more than a week following pregnancy and interfere with the mother’s ability to function. Symptoms typically include irritability, confusion, forgetfulness, uneasiness, fatigue, guilt, anxiety, and suicidal thoughts. The development of PND is typically greatest within 12 weeks post-delivery and symptoms can last over a year (Dennis, 2005). This condition can interfere with bonding and attachment…

Sickle Cell Disease is an inherited autosomal recessive disorder that is diagnosed in both children and adults. Most children in the United States are diagnosed very early in age, because the signs and symptoms of Sickle Cell Disease are usually going to begin in early childhood (nih.gov). Sickle Cell Disease is a disorder in which the body produces sickle, or “crescent” shaped, blood cells instead of disc-shaped cells. These crescent shaped blood cells are caused by an abnormal sickle shaped…

diagnosis of congenital disorders and genetic diseases: clinical and laboratory (cytogenetics, biochemical assays, DNA testing, etc.); genetics counselling; pre-conception care; prenatal screening; prenatal and pre-implantation genetic diagnoses; newborn screening; carrier screening; population genetic screening according to other established policies. 2 The only recognizably functional and well organized available community genetic service in Nigeria is that provided by Sickle Cell foundation…

drug trials to exclude women, even though women were affected by the condition being studied or would be prescribed the drugs that were being tested. To improve the health of all childbearing-aged women and their newborns, women should be educated and advised on preconception screening for preexisting conditions and risks, counseling about contraception and access to effective family planning to prevent unintended pregnancy, and encouragement of good nutrition and other health habits. It is also…

Summary Sickle cell disease (Zia & Rafique) is a hereditary blood disorder that is caused by a mutation in the hemoglobin genes. The disease represents a major health problem in high prevalence countries such as Saudi Arabia (SA) due to the associated high mortality rate. To date, there has been no studies discuss the current status of SCD in SA, its impact on health care cost and the major factors associated with high utilization of health care services. This paper aimed to review articles…

Comprehensive Medical Report on Sickle Cell Anemia Where did sickle cell come from? Sickle cell disease is said to have originated in West Africa. Sickle Cell Anemia is a very serious disease. It is a genetic disorder, which is inherited, and is the result of mutated hemoglobin. When a person has sickle cell anemia, their red blood cell count is lower than that of a normal person with a healthy amount of red blood cells. When a person does not have enough healthy red blood cells in their body,…

Identify the disease process presented by the case study as well as the normal structure and function of the organ system and/or physiological process that has the alteration. Shawn, the main character of “The Uniformed Coach” scenario has sickle cell disease (SCD) and is suffering from a sickle cell crisis. Sickle cell disease is a form of hemolytic anemia that is inherited; being caused by an abnormal hemoglobin molecule. There are several forms of SCD but the most severe is simply called…

Normally a child inherits 46 chromosomes from their parents, 23 from each parent. An abnormal cell division in early embryo development can cause Down syndrome also called Downs Syndrome named from John Langdon Down, an English Physician, who wrote about it in 1866. A child born with this defect has an extra or abnormal chromosome 21.this changes the way the body and brain develops, and depends on the type of down syndrome and how may cell shave an abnormal chromosome 21. Experts believe that…

The auditory brainstem response (ABR) test is frequently used to measure hearing sensitivity and to evaluate the auditory system. The test involved a computer measuring the way a child’s hearing nerve responds to different sounds. Audiologists performed the ABR recordings during both the study and control group. The process involved electrodes being placed typically on a child’s forehead and in front or in back of the ears. The electrodes are connected to the computer, and earphones are placed…