newborn screening

Question 1

newborn genetic screening is done within how many hours of birth?

Answer 1

72 hours

Question 2

newborn genetic screening: amino acid disorders

Answer 2

PKU
maple syrup urine disease
homocystinuria

Question 3

Phenylketonuria

Answer 3

PKU
autosomal recessive gene
buildup of phenylalanine in CNS
caused by deficiency of enzyme phenylalanine hydroxylas

Question 4

clinical signs and symptoms of PKU

Answer 4

vomiting
irritability
eczema
seizures
severe mental retardation
urine has mousy smell

Question 5

testing methods for PKU

Answer 5

Immunoassay (direct)
Guthrie Bacterial Inhibition test

Question 6

Guthrie Bacterial Inhibition test

Answer 6

agar w/ Bacillus subtilis spores
B. subtilis inhibited by beta 2 thienyalanine
phenylalanine neutralizes additive and there is growth

Question 7

treatment of PKU

Answer 7

phenylalanine free diet (no diet sodas)

Question 8

maple syrup urine disease

Answer 8

autosomal recessive
deficiency in carboxylation of branched keto acid chain
elevations of leucine, isoleucine, and valine in blood/urine

Question 9

clinical signs and symptoms of maple syrup disease

Answer 9

convulsions
urine maple syrup smell
sever mental retardation
death by 2yrs old

Question 10

testing for maple syrup disease

Answer 10

immunoassay

Question 11

treatment of maple syrup disease

Answer 11

diet low in leucine, isoleucine, and valine

Question 12

incidence of PKU

Answer 12

1/15,000

Question 13

incidence of maple syrup disease

Answer 13

1/200,000

Question 14

homocystinuria

Answer 14

deficiency of cystathionine-B synthase (conversion of methionine to cystine)

Question 15

homocystinuria has what metabolism build up in body fluids

Answer 15

methionine
homocystine
sulfur-containing compounds

Question 16

clinical presentation of homocystinuria

Answer 16

poor bone formation
eye and circulatory problems
mental retardation

Question 17

testing for homocystinuria

Answer 17

immunoassay

Question 18

treatment of homocystinuria

Answer 18

methionine free diet

Question 19

occurrence of homocystinuria

Answer 19

1/100,000

Question 20

newborn genetic screening: congenital disorders

Answer 20

hypothyroidism
congenital adrenal hyperplasia

Question 21

hypothyroidism

Answer 21

congenital hypothyroidism
failure of thyroid gland to produce thyroid hormones
newborn cretinism

Question 22

clinical appearance of newborn hypothyroidism

Answer 22

hypotonic posture
coarse facial features
umbilical hernia

Question 23

hypothyroidism in newborns prognosis

Answer 23

treated immediately return to normal
delayed 3 months only 50% reach IQ of 85

Question 24

testing for newborn hypothyroidism

Answer 24

T4 and TSH immunoassay

Question 25

treatment for hypothyroidism

Answer 25

L-thyroxin tablets (oral)

Question 26

incidence of newborn hypothyroidism

Answer 26

1/3,000- 1/5,000

Question 27

congenital adrenal hyperplasia

Answer 27

deficiency in enzymes responsible for production of steroid hormones in adrenal cortex (2,1 hydrolase) decreased glucocorticoids

Question 28

in congenital adrenal hyperplasia glucocorticoid precursors are converted to androgenic steroids that results in

Answer 28

short stature early puberty severe acne virilization and infertility in females ambiguous genitalia electrolyte unbalance

Question 29

testing for congenital adrenal hyperplasia

Answer 29

assay for hormones

Question 30

treatment of congenital adrenal hyperplasia

Answer 30

hormone replacement

Question 31

incidence of congenital adrenal hyperplasia

Answer 31

mild: 1/100- 1/1,000 severe: 1/14,000

Question 32

hemoglobinopathies in newborn genetic screening

Answer 32

problems in abnormal Hgb production anemia ab. RBC shape impacts ciruclation and damage to cells

Question 33

most common hemoglobinopathies

Answer 33

sickle cell thalassemia Hb S/C disease

Question 34

clinical symptoms of hemoglobinopathies

Answer 34

pain amemia frequent infections

Question 35

treatment of hemoglobinopathies

Answer 35

supportive transfusions

Question 36

testing of hemoglobinopathies

Answer 36

isoelectric focusing technique: all Hgb charged depending on aa sequence Hgb stops at isoelectric point

Question 37

enzyme disorders in newborn genetic screening

Answer 37

galactosemia biotinase deficiency cystic fibrosis

Question 38

galactosemia

Answer 38

galactose pathway can affect any part of pathway (galactokinase, gal-a-p undyl transferase, udp gal 4 epimerase, udp glucose)

Question 39

clinical symptoms of galactosemia

Answer 39

vomiting jaundice hepatomegaly cataracts cirrhosis mental retardation

Question 40

testing for galactosemia

Answer 40

immunoassay

Question 41

treatment of galactosemia

Answer 41

galactose free diet

Question 42

occurrence of galactosemia

Answer 42

1/70,000

Question 43

cystic fibrosis

Answer 43

hereditary disorder w/ lung congestion and infec. and malabsorption of nutrients by pancreas

Question 44

screening test for cystic fibrosis

Answer 44

increased trypsin levels in blood confirm w/ sweat chloride test

Question 45

treatment of cystic fibrosis

Answer 45

supportive gene therapy

Question 46

occurrence of cystic fibrosis

Answer 46

1/3,000

Question 47

biotinase deficiency

Answer 47

failure to prod. biotinase

Question 48

clinical symptoms of biotinase deficiency

Answer 48

damage to CNS seizures mental retardation hair loss skin rashes sudden death

Question 49

testing for biotinase deficiency

Answer 49

assay for enzyme level

Question 50

treatment of biotinase deficiency

Answer 50

vitamin supplements

Question 51

incidence of biotinase deficicency

Answer 51

1/40,000

Question 52

newborn genetic screening: organic acid metabolism disorders

Answer 52

isovaleric acidemia glutaric acidemia can't process aa due to enzyme malfx causing organic acid to build up

Question 53

newborn genetic screening fatty acid oxidation disorders

Answer 53

enzymatic deficiencies impacting fat breakdown and energy metab. from fat conversion short and long chain enzyme deficiencies

Question 54

other newborn genetic screening: highest scoring diseases

Answer 54

medium chain acyl CoA dehydrogenase congenital hypothyroidism phenylketonuria

Question 55

other newborn genetic screening: 2nd highest scoring diseases

Answer 55

biotinidase deficiency sickle cell congenital adrenal hyperplasia

Question 56

other newborn genetic screening; Colorado added testing

Answer 56

fatty acid organic acid aa disorders immunoassay testing