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Medical Genetics Q1 > Newborn Screening > Flashcards

Newborn Screening Flashcards

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1
Q

What are the two types of hearing screens available

A

Automated auditory brain stem response and otoacoustic emissions

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2
Q

Where are the two places to take a pulse ox

A

Right foot or right hand

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3
Q

What are the point of care tests

A

Pulse ox and hearing screen

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4
Q

What are the tiers in the two tier approach to newborn screening

A

Survey and evidence based analysis

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5
Q

What are the general principles of the Wilson-Jungner principles

A 
Public health problem
Natural hx of condition 
Early detection
Early tx
Early stage testing
 Test is acceptable
Risk is less than benefits
Cost is balanced
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6
Q

How soon should you perform the newborn screening

A

24-48 hours

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7
Q

What is the treatment of fatty acid oxidation disorders

A

Lab work, nutrition, low-fat, high carb diet, carnotite supplements, Don’t fast!!

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8
Q

What is the classification of fatty acid disorders

A

Enzyme deficiency

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9
Q

What is the MCAD enzyme deficiency

A

Beta oxidation of fatty acids

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10
Q

What are the sx of MCAD

A

Vomiting, hypoketotic hypoglycemia, met acidosis, lethargy, FTT, hepatomegaly

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11
Q

What is the tx of MCAD

A

Frequent feeds, avoid fasting

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12
Q

Ssx of organic acid disorders

A

Hypoglycemia, ketoacidosis, feeding intolerance, vomiting, dehydration, lethargy, blood ammonia increased, ketouria, hypotonia, seizures, coma, death

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13
Q

Treatment of organic acid disorders

A

Low protein diets, medical formulas, avoid fasting

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14
Q

What is the treatment of amino acid disorders

A

Treatment of these disorders involve nutritional mgmt with restrictions of specific amino acids

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15
Q

What is the way to perform a newborn screen?

A

Heel stick

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16
Q

What is phenylketonuria inherited

A

Autosomal recessive

17
Q

How is phenylketonuria screened for

A

Increased phenylalanine, increased ratio of phenylalanine to tyrosine

18
Q

Treatment of phenylketonuria

A

Diet restriction of phenylalanine and close monitoring

19
Q

Ssx of congenital hypothyroidism

A

Jaundice, excessive sleep, feeding intolerance, constipation, hypotonia, pallor, tongue edema, periorbital edema, delay fontanelle closure

20
Q

Treatment of congenital hypothyroidism

A

Thyroxine daily

21
Q

Ssx of congenital adrenal hyperplasia

A

Ambiguous genitalia, lethargy, vomiting, poor feeding, dehydration, adrenal crisis

22
Q

Treatment of congenital adrenal hyperplasia

A

Hydrocortisone, mineralocorticoids,

23
Q

How soon should a parent be contacted in galactosemia

A

With in 12 hours

24
Q

Ssx of galactosemia

A

Jaundice, feeding intolerance, vomiting, lethargy, bulging fontanelle, bleeding, gram negative sepsis

25
Q

Treatment of galactosemia

A

Lactose and galactose restrictions and soy based formulas

26
Q

Biotinidase deficiency ssx

A

Hypoglycemia, lethargy, hypotonia

27
Q

Biotinidase deficiency treatment

A

Daily biotin

28
Q

Sickle cell disease ssx

A

Anemia, high risk for infections, poor growth, vision problem, stroke, jaundice

29
Q

Treatment of sickle cell disease

A

Prophylactic PCN and daily folic acid, IV mgmt and blood transfusions

30
Q

What is the most common gene in cystic fibrosis

A

Delta F508

31
Q

What is the confirmation of cystic fibrosis

A

Sweat test

32
Q

What is the optimal time frame for hearing intervention

A
33
Q

What is the treatment of severe combined immune deficiency

A

Hematopoietic stem cell transplantation or enzyme therapy

34
Q

Critical congenital heart disease treatment

A

Requires surgery or catheter intervention

35
Q

What it the treatment for pompe

A

ERT

36
Q

What is the treatment of MOS1

A

HSCT and ERT

37
Q

How soon should the short term follow up occur

A

First 6 mos of life

38
Q

What are the 4 components of long term follow up

A

Care coordination, EBM, continuous quality improvement, new knowledge discovery

Medical Genetics Q1 (3 decks)

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