Topic 5 Part 3 Newborn screening for genetic risks Flashcards
The _ trimester of a pregnancy is the best time to inform parents of the importance of newborn screening and the risks of not screening.
Third.
The first newborn screening tests began in the mid-1960s for _
Phenylketonuria (PKU).
The focus of newborn screening is usually on genetic disorders that are inherited in a _ manner.
Recessive (exception: congenital hypothyroidism).
Recommended newborn screening panel
Each state determines its own screening panel, potentially excluding some rare disorders - over 60 possible tests; Louisiana currently screens for 30 disorders.
An “abnormal” or “positive” newborn screening
Indicates that the newborn is at risk for the development of a disorder on the screening panel; these infants need immediate attention, further testing, and follow-up.
An “unsatisfactory” newborn screening
Requires that the screening be repeated; can be caused by collecting the sample too early, after a blood transfusion, while on TPN, etc.
The blood sample for newborn screening should be taken no earlier than _ after birth.
48 hours (if taken earlier, the test may miss certain disorders and will need to be repeated; PKU - infant must have had 2 feedings).
The blood sample for newborn screening is taken via _ and placed onto _
Heelstick; filter paper.
_ tests the infant’s ability to hear soft sounds through miniature earphones. Sensors measure a baby’s brainwaves to determine if soft sounds can be heard.
Auditory Brainstem Response (ABR).
_ are measured directly with a miniature microphone and sent to a special computer to determine a baby’s hearing status.
Otoacoustic Emissions (OAE).
