Melissa Ewerth Graduate Adapted Physical Education, WCU

 Screening Test: A test that is designed to screen for a specific condition.  Screening tests separate individuals who are at risk for a condition from those who are not.  All screening tests produce false positive results, and some produce false negative results.

 Diagnostic Test: Specifically used to confirm or deny a specific disease or condition in an individual.  Diagnostic tests should not give false positive or false negative results, and they are known as the ideal screening tests.

 First successful screening took place in Massachusetts in 1962 for PKU.  The expansion of newborn screening began in 1975 when the test for congenital hypothyroidism.  Currently, there are 400,000 newborns screened each year in the United States.

The American Academy of Pediatrics (AAP) issued a report recommending the following criteria for newborn screening. 1. The condition should be an important health matter that occurs frequently enough to validate screening an entire population. 2. The treatment for the condition being screened should be available to all newborns, accepted by health care professionals, and effective when used early on in life. 3. The screening test should be safe, acceptable, precise, and validated.

 Endocrine Disorders  Lung Disorders  Blood Disorders  Infectious Diseases  Metabolic Disorders

The majority of newborn screening tests are done by taking blood. ◦ Blood sample is taken by heal prick and blotted onto filter paper. ◦ Sample taken after 24 hours of age. ◦ Filter paper is dried and sent to the screening lab.

 The Tandem Mass Spectrometer (MS/MS) gives a quick and sensitive method for mass screening. ◦ Single sample screened in 1-2 minutes. ◦ Numerous disorders are screened.  The use of this device has been able to increase the amount of newborns diagnosed.

 Newborn screening is not always accurate. ◦ Specimen taken at the wrong time. ◦ Newborn blood transfusions give false negatives for certain disorders. ◦ Weather conditions during shipment of specimen.  Not all newborns are screened.

When a newborn has a positive screen, the following steps should be taken: 1. Notification of the family and primary care physician. 2. Further evaluation 3. Treatment when acceptable

 Many positive screens turn out to be false. ◦ For every 10 newborns that test positively, only one will actually have the disease.  Mothers of false positive infants have increased stress levels.  Mothers of false-positive infants have an increased chance of parent-child dysfunction.

 Follow-up testing methods will differ based on the disorder and the method used for the first screening.  An abnormal first screening will be sent back to the same lab for a follow-up screening

 Positively screened newborns are sent to a physician specializing in their disorder.  Access to nurses, counselors, social workers, and nutritionists is often provided to the family.  Additional testing is used to provide further resources.

Several studies have produced results of developmental outcomes for individuals with metabolic disorders.  Children diagnosed as newborns had fewer developmental delays than those who were diagnosed later.  These children also had fewer hospital visits and higher scores on standardized testing.

 Students screened positively at birth will often have additional resources provided to them to help with their condition. ◦ Be aware of these resources. ◦ Work with the family and outside sources to accommodate the student.  Know your students ◦ A student diagnosed at birth is more likely to function better than a student diagnosed later in life. ◦ Never assume that two students with the same condition will be the same!

 Newborn screening tests are important to help recognize the risk of both medical and genetic conditions.  Newborn screening tests are used for a variety of things. ◦ Prenatal Screening ◦ Mass newborn screening ◦ Targeted Screening  Diseases and conditions screened for has grown and will continue to grow

Melissa Ewerth-