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1

Series of blood tests performed on a neonate with the goal of early identification and treatment of disease

newborn screening

2

newborn screening consists of

1. Individual tests for specific diseases (PKU)
2. Tandem mass spec
3. Genetic probes
4. Hearing screen
5. Pulse oximetry screening

3

Galactosemia screening was adopted in all 50 states when

mid 1970's

4

Features of any Screening Test (6)

1. High sensitivity
2. Disease with severity which would warrant early detection
3. Cheap, easy and fast
4. Definitive test is available
5. Early detection can change the course of the illness
6. Treatment available- historically a requirement, now contorversial

5

the probability that a person who truly has a disease will have a positive test. This is a “true positive”

sensitivity

6

Screening tests should have a very high _____ rate, though it means sacrificing ____

high sensitivity rate
specificity

7

the probability that a person who really does not have the disease will have a negative test. This is a “true negative.”

specificity

8

true positive

sensitivity

9

true negative

specificity

10

a person who tests as negative but who is actually positive

false negative

11

a person who tests as positive but who is actually negative

false positive

12

the likelihood that a person has the disease given a positive test result

positive predictive value

13

the likelihood that a person does not have the disease given a negative test result

negative predictive value

14

who mandates and gives states time to comply as states have particularities

HHS

15

what are the screening requirements for CO

initial and second test screening (second test around 1-2 weeks of age)
**some diseases show up later and can be missed at birth screening like thyroidism

16

tests currently being screened in CO (9)

1. Phenylketonuria*
2. Congenital Hypothyroidism*
3. Hemoglobinopathies*
4. Galactosemia
5. Cystic Fibrosis
6. Biotinidase Deficiency
7. Congenital Adrenal hyperplasia*
8. B.A.E.R. (hearing test)
9. TANDEM Mass spect

17

what tests use dried blood spot sample

1. PKU
2. Hypothyroidism
3. Sickle cell disease

18

First and classic congenital disease identified by newborn screen

PKU

19

a disorder of amino acid metabolism where branched chain AA are not broken down appropriately caused by an enzyme deficiency

PKU

20

sx include:
-neurodevelopmental problems:
-Developmental delay to severe cognitive impairment
-Seizures
-Autism
-Hyperactivity
-Aggressive behavior
- Hair and skin changes incl. hypopigmentation (from lack of melanin)

PKU

21

How is PKU treated?

-restricted diet- elimination of certain amino acids**Children of mom off diet during pregnancy at risk for congenital heart disease

22

Most common true positive test
and most common test to be missed on 1st screening and picked up on second screening

hypothyroidism

23

when do you check for hypothyroidism

Check as close to or after 24 hours bc there is a TSH spike immediately after birth which can alter results

24

if mom is on TH what can happen to the babys results

get false positive

25

Untreated, causes “cretinism”

hypothyroidism

26

sx include:
1.“cretinism”
2. Cognitive impairment
3. growth and neurologic abnormalities,
4. fatigue,
5. skin changes,
6. coarse hair
7. large tongue

hypothyroidism

27

how is hypothyroidism treated

Thyroid hormone for life
*normal IQ, good health

28

sx include:
Painful crises
Aplastic crises
Predisposition to infection
Tendency toward infarction
Bony changes associated with high blood cell turnover

sickle cell disease

29

caused by ectopic thyroid gland (migrated wrong)

hypothyroidism

30

commonly causes bone marrow to shunt down or infarct of the spleen

sickle cell disease