PF- NEWBORN SCREENING Flashcards

(64 cards)

1
Q

What is the RA for newborn screening

A

r.a 9288

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2
Q

RA 9288 is also known as

A

known as Newborn Screening Act of 2004

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3
Q

what is newborn screening

A

Process of collecting a few drops of blood from the newborn onto an appropriate collection
card and performing biochemical testing to determine of the newborn has a heritable
condition

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4
Q

promulgating a comprehensive policy and a national system for ensuring Newborn Screening, known as Newborn Screening Act of 2004

A

R.A 9288

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5
Q

when is newborn screening performed

A

after 24hrs of life not later than 3 days from complete delivery of the newborn

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6
Q

what are the six disorders newborn screening is used to detect

A
  • Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia (CAH)
  • Phenylketonuria
  • Glucose-6-Phosphate Dehydrogenase Deficiency
    (G6PD)
  • Galactosemia (GAL)
  • Maple Syrup Urine Disease (MSUD)
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7
Q

previously known deficiency of
thyroid hormone in newborns.

A

Congenital hypothyroidism,

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8
Q

It causes impaired neurological function, stunted growth, and physical deformities.

A

congenital hypothyroidism

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9
Q

what are the two main possible causes of congenital hypothyroidism

A
  • problem with the baby’s thyroid gland
  • lack of iodine in the mother’s body during pregnancy
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10
Q

specific causes for congenital hypothyroidism

A

-missing, poor form, abnormally small thyroid gland
-genetic defect affecting the production of thyroid hormone production
- little iodine in mother’s diet during pregnancy
-radioactive/antithyroid treatment for thyroid cancer during pregnancy
- medicine that disrupt thyroid hormone production- antithyroid, sulfonamides, lithium

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11
Q

a pregnant mother is diagnosed with thyroid cancer and is prescribed antithyroid treatment, what possible condition can the newborn experience?

a. congenital adrenal hyperplasia
b. congenital hypothyroidism
c. phenylketonuria

A

b. congenital hypothyroidism

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12
Q

a child with congenital hypothyroidism can experience mental retardation if not treated, how many IQ points do they decrease and for how long

A

A child’s IQ can drop several points 1 every
few months that treatment is delayed.

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13
Q

what are the complications that come with congenital hypothyroidism?

A

-abnormal walk
- muscle spasticity
- inability to speak
- autistic behavior
- vision and hearing problems
-problem with memory and attention

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14
Q

in a specific developing country, pregnant women have been seen to be commonly deficient in iodine. What can this be an indication for the newborn?

A

congenital hypothyroidism

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15
Q

who recommends the RDA

A

INSTITUTE OF MEDICINE

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16
Q

WHAT DOES RDA STAND FOR

A

RECOMMENDED DIETARY ALLOWANCE,

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17
Q

According to the institute of medicine, what is the RDA for iodine?

A

150 micrograms per day-
1 tsp of salt= 400 mcg

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18
Q

what are the signs and symptoms of congenital hypothyroidism

A
  • lack of weight gain
  • stunted growth
  • abnormal bone growth
  • thickened facial features
  • hoarse voice
  • floppy, low muscle tone
  • jaundice, excessive sleep, poor feeding, very little crying
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19
Q

this is described as walnut-sized organ above the kidney

A

adrenal glands

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20
Q

refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys.

A

congenital adrenal hyperplasia (CAH)

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21
Q

what are the three important hormones the adrenal gland produces?

A

cortisol
mineralocorticoids
androgens

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22
Q

this hormone g: Regulating your body’s stress response. Helping control your body’s use of fats, proteins and carbohydrates, or your metabolism

A

cortisol

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23
Q

these are a class of steroid hormones that regulate salt and water balances.

A

Mineralocorticoids

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24
Q

these are crucial for male sexual and reproductive function. They are also responsible for the development of secondary sexual characteristics in men, including facial and body hair growth and voice change. Androgens also affect bone and muscle development and metabolism.

A

androgen

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25
what are the two major types of CAH
classic CAH- rare, detected in infancy, salt-losing form 2/3, simple-virilizing form 1/3 NONCLASSIC CAH- milder, more common, not evident until childhood or early adulthood
26
a female infant is seen to have two genitalia of an opposing sex, what is this called and it is an indication of what disorder?
ambiguous genitalia, indicates nonclassic CAH. in which the clitoris is enlarged or the genitals look more like those of a male child.
27
a child who is said to have classic CAH has genitals that appear in what way?
normal appearing genitals.
28
when the body experiences very low levels of cortisol
adrenal crisis
29
what are the signs and symptoms of classic CAH in children and adults
Appearance of pubic hair at a very early age Rapid growth during childhood, but shorter than average final height
30
an adult patient shares that they experienced rapid growth during childhood but complain that they are shorter than average final height, this can be an indication of what disorder?
CLASSIC CAH
31
TRUE OR FALSE: nonclassic CAH does not cause adrenal crisis
TRUE only CLASSIC CAH causes adrenal crisis
32
what do both types of CAH possibly cause in both males and females?
both may also experience fertility problems
33
this is a rare condition that causes an amino acid called ___ to build up in the body
phenylketonuria- phenylalanine
34
what is PKU caused by?
a defect in the gene that creates phenylalanine hydroxylase
35
what is the enzyme used to convert phenylalanine into tyrosine needed to create neurotransmitters like epinephrine, norepinephrine, and dopamine
phenylalanine hydroxylase
36
what are the signs and symptoms of phenylketonuria
Seizures tremors stunted growth hyperactivity a musty odor of their breath,
37
how do we treat someone who is diagnosed with phenylketonuria
EAT SPECIAL DIETS limiting foods containing phenylalanine (most protein sources) eggs cheese nuts milk beans chicken beef pork fish
38
is an inherited condition. It is when the body doesn't have enough of an enzyme. This enzyme helps red blood cells work properly.
G6PD deficiency- gluose-6-phosphate degydrogenase deficienct
39
lack of g6pd enzyme can cause
hemolytic anemia (rbc are destroyed faster than the are made) hemolysis- destruction of rbc
40
in G6PD who is the carrier and who is deficient
women carry one copy of the gene and pass it down to children. Men get the gene and have G6PD deficiency. Women often don't have symptoms
41
G6PD signs and symptoms
Pale skin Yellowing of skin, eyes, and mouth Dark-colored urine Fever Weakness Dizziness Confusion Trouble with physical activity Enlarged spleen and liver Increased heart rate
42
how do we treat glucose-6-phosphate-dehydrogenase deficiency
-avoid certain medicine, food, environmental exposure - tell providers you have it - check with provider before taking medication severe form of the deficiency- g6pd
43
upon check up a male patient is seen to have an enlarged spleen, jaundice, and a fever what could this indicated
glucose-6-phosphate dehydrogenase deficiency
44
rare metabolic condition that prevents them from processing galactose and turning it into energy.
GALACTOSEMIA
45
having too much galactose in the blood. The buildup of galactose can lead to serious complications and health problems.
Galactosemia
46
when does the symptoms of galactosemia appear?
appear days or weeks after delivery.
47
SS of GALACTOSEMIA
loss of appetite vomiting jaundice liver enlargement liver damage fluid building up in abdomen and swelling abnormal bleeding diarrhea irritability fatigue or lethargy weight loss weakness
48
COMMON COMPLICATIONS of galactosemia
liver damage or liver failure serious bacterial infections sepsis shock delayed development cataract speech problems fine motor difficulties low bone mineral density premature ovarian insufficiency
49
what is the treatment for galactosemia?
The most common treatment for galactosemia is a low-galactose diet. To follow a low-galactose diet, avoid foods with lactose are the dairy products
50
is an inherited disorder in which the body is unable to process certain protein building blocks properly. The condition gets its name from the distinctive sweet odor of affected infants' urine.
Maple syrup urine disease (MSUD)
51
how is MSUD characterized?
poor feeding, vomiting, lethargy, abnormal movements, and delayed development
52
MSUD can be classified into three
classic(severe), intermediate, intermittent (mild)
53
MSUD Signs and symptoms
Lethargy Poor appetite Weight loss weak sucking ability irritability a distinctive maple sugar color in earwax, sweat, and urine irregular sleep pattern high-pitched cry
54
Signs of intermediate and thiamine- response MSUD include:
seizure neurological deficiencies developmental delay feeding problem
55
complications of MSUD caused by an increase of?
Intense increase of BCAAs in the system Extreme fatigue or lethargy Loss of alertness Irritability Vomiting
56
MSUD untreated, the following severe complications can occur:
Swelling of the brain Lack of blood flow to the brain Metabolic acidosis Coma
57
When these conditions occur, they can result in: msud
Severe neurological damage Intellectual disability Blindness Spasticity
58
What if newborn screening is not done?
- brain damage - developmental and physiological delays, breathing problems and even death
59
The mother should coordinate with the baby's healthcare practitioner to make an appointment with a specialist for the follow-up testing if the baby failed one of the newborn screenings.
yes
60
what is the method used for newborn screening?
heel prick method
61
when performing a newborn screening what should you remember before filling the card
the first drop of blood should be wiped off, to fill the circles completely and be as clean as possible, no going back and forth once you've filled a circle
62
how many mL is taken for newborn screening
2.5mL
63
every how many days does the RBC DIE AND GO TO THE SPLEEN
120 days
64
uncontrolled muscle tightness
SPASTICITY