Question

Newborns are tested at birth for newborn disorders. The disorders included in newborn screening vary from state to state. Most states test for all of the conditions specified by the Health Resources and Services Administration (HRSA) in their Recommended Uniform Screening Panel. These conditions include phenylketonuria (PKU), cystic fibrosis, sickle cell disease, critical congenital heart disease, hearing loss, and others. Some states test for additional disorders that are not part of the HRSA panel.

Most of the conditions included in newborn screening can cause serious health problems if treatment is not started shortly after birth. Prompt identification and management of these conditions may be able to prevent life-threatening complications.

NOTE: (PLEASE NO HANDWRITING ALL TYPED.)

1. Discuss this testing,?

2. How the testing is done ? and

3. what it can mean for the infant?

Answer 1

Answer: The testing includes for the diseases:

• Cystic fibrosis: It is caused due to different in the protein synthesis which is responsible for the transportation of chloride ions. In this case the production of thick mucous secretion occurs in the lungs of the newborn. The early detection of the disease can reduce the life long disparities.
• PKU is the condition where the amino acid doesn't break down. The symptoms occurs after few months of the newborn. It is important to treat for this otherwise it may cause poor growth, microcephaly as well as seizure.
• Sickle cell disease is a genetic problem in the normal functioning of the hemoglobin. In this disease the red blood cells becomes hard, crescent shaped.
• Sickle cell diseases are inherited abnormalities in the function of hemoglobin. "Sickling" is the term referring to changes in the red blood cell causing them to become hard, sticky and crescent shaped. This increases in the rate of infection. The normal blood supply to organs and tissues get disturbed.
• Cognitive adrenal hyperplasia: It is a set of disorders which is mainly caused by the deficiency of the adrenal enzymes. This deficiency causes reduce level of cortisol. It causes lethargy, weakness, abnormal growth and development in the infants.