standard newborn screening Flashcards

1
Q

what is Phenylketonuria?

A

accumulation of amino acids in body→neurotoxic

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2
Q

what is Methylmalonic acidemia?

A

body cant breakdown lipids and proteins

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3
Q

what is maple syrup urine disease?

A

cannot breakdown proteins (makes urine smell sugary/maple syrup)

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4
Q

what is Tyrosinemia?

A

cannot breakdown tyrosine

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5
Q

what is Citrullinema?

A

accumulation of ammonia in the blood

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6
Q

what hormone conditions to look for in newborn?

A

Congenital hypothyroidism
Congenital adrenal hyperplasia

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7
Q

what hemoglobin conditions to look for in newborn?

A

Sickle cell disease
Hemoglobin sc disease
Beta thalassemia

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8
Q

what is the new Ballard score?

A

assesses 6 external physical and 6 neuromuscular signs

Each sign has a number score, and the cumulative score correlates with a maturity rating (gestational age)

performed within first 48 hrs of life

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9
Q

what should the avg BP generally be for a newborn?

A

60-80 mmHg systolic and 40-50 mm Hg diastolic

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10
Q

what is the typical length of a newborn after birth?

A

should be 45-55cm

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11
Q

what should the Head circumference of a newborn be?

A

33-35 cm

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12
Q

what is vernix caseosa?

A

naturally occurring biofilm over fetal skin, usually white, cheesy and odorless

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13
Q

are the legs or arms longer in a newborn?

A

arms

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14
Q

is the flat-footed effect normal in a newborn?

A

yes

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15
Q

what is the Test magnet reflex?

A

Lower limbs should extend as pressure applied to feet with legs in semiflexed position

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16
Q

how to test for the sphincter response (wink reflex)?

A

Inspect and palpate anus

17
Q

what is the Extrusion reflex?

A

touch or depress tip of tongue, newborns tongue should force outward

18
Q

what is the Glabellar reflex?

A

tap over forehead, bridge of nose, or maxilla of newborn whose eyes are open. Newborn should blink for first four or five taps

19
Q

what is Tonic neck or fencing reflex?

A

with newborn in a supine neutral position, turn head quickly to one side. With newborn facing left side, arm and leg on that side extend; the opposite arm and leg flex

20
Q

what is the Crossed extension reflex?

A

opposite leg flexes, adducts and then extends

21
Q

what is a general concern when assessing a baby?

A

If babies aren’t irritated when you’re assessing them

22
Q

what score is normal for the APGAR?

A

7+
- 10 is rare since most babies have blue hands an feet