Newborn Screening Recommendations And USPSTF Flashcards

1
Q

What is the criteria for screening across the lifespan?

A

Treatment:
-The disorder should be so serious that lack of treatment would result in morbidity or death
-A reliable screening test with a low false-negative rate must be available
Test:
-The test must be simple and inexpensive
- A definitive follow-up test should be available so that true positives can be identified and false positives eliminated

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2
Q

How to screen for Neonates?

A

Cord blood is collected from al infants at birth
-used for blood typing
Glucose testing is performed in infants at risk for hypoglycemia
Hematocrit is measured at age 3-6 hours for anemia and polycythemia

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3
Q

How many drops of neonate blood is needed to screen for a serious medical condition?

A

5 drops of blood

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4
Q

What are the different types of screening for newborns/

A

Inborn errors of metabolism
-PKU
-Galactosemia
Endocrine disorders
- Congenital adrenal hyperplasia
- Congenital hypothyroidism
Hemoglobinopathies
- Sickle cell disease
-Thalassemia
Immunodeficiency
Cystic fibrosis
Critical congenital heart defects

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5
Q

What is Phenylketonuria (PKU)?

A

Disorder that causes an amino acid called phenylaline to build up in the body

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6
Q

What happens if to much phenylaline builds up in the body?

A

It can cause intellectual disability
-since the body cannot break down the essential Amino acid

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7
Q

What is the screening test for PKU?

A

Guthrie test
-blood sample is placed on collection cards

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8
Q

How does one obtain PKU? (Genetics)

A

It is an autosomal recessive pattern
-both parents must pass on a defective gene

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9
Q

How is PKU treated?

A

-avoid eating proteins
- take a medical formula with amino acids expect phenylanine

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10
Q

What is galactosemia?

A

A genetic disorder that affects the ability to metabolize galactose
-There is an inability to use galactose to produce energy

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11
Q

How to treat galactosemia?

A

Use a low galactose diet to avoid toxicity

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12
Q

What is Congenital Adrenal Hyperplasia?

A

Defects in the enzymatic steps of cortisol formation
-affects the adrenal glands
Increase in ACTH

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13
Q

What happens when there is an increase in ACTH during CAH?

A

Leads to over secretion of steroids whose production does not require the enzyme
- androgens, estrogen
-increase adrenal androgenic hormones
- short heigh, early puberty

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14
Q

What are the effects of Congenital Adrenal Hyperplasia?

A

Virilization
-abnormal or ambiguous genitalia
-enlargers clitoris or genitals that look like MAB
Adrenal crisis
-Develops in first few days to weeks of life
- Vomiting, diarrhea, hyperkalemia, hypoglycemia

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15
Q

What are the screening techniques for Congenital hypothyroidism?

A

Primary TSH (thyroid stimulating hormone) with backup T4
Primary T4 with backup TSH

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16
Q

What happens when the thyroid stimulating hormone is low/high?

A

Low: hyperthyroidism
High; hypothyroidism

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17
Q

What happens to babies with congenital hypothyroidism?

A

Diminished physical/motor activity/poor muscle tone
Leads to growth and intellectual retardation

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18
Q

What is sickle cell disease?

A

RBC are dis-formed in a sickle shape
-the dis-formed RBC then cause roadblocks and gets stuck in the blood vessels

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19
Q

What is the correct terminology for an abnormal hemoglobin?

A

Hemoglobin s or sickle

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20
Q

What is the screening technique for sickle cell disease?

A

Hemoglobin electrophoresis

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21
Q

Infants with sickle cells should receive what type of treatment?

A

Prophylactic penicillin (2 months)
Pneumococcal immunizations

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22
Q

What is Critical congenital heart disease? (CCHD)

A

A group of serious heart defects that are present from birth

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23
Q

How to screen for critical congenital heart disease?

A

Use of pulse oximetry
PASS:
*pulse ox is 95% or greater AND the difference is 3% less points between the right hand and foot
FAIL:
*Less than 90% in right hand and foot

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24
Q

What is the possible reason for a failed pulse ox test?

A

There could be a possible right to left shunting from PDA(patent ductus arteriosus) or PFO (Patent foremen ovale)
*Need an echocardiography
*Performed when the baby is at least 24 hours of age
*usually second day of life

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25
Q

What is the screening for cystic fibrosis?

A

Immunoreactive trypsin (IRT)
*preferred initial test
CF is confirmed with sweat chloride test

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26
Q

What are some of the characteristics of cystic fibrosis?

A

-A defect in mucus secretion and eccrine sweat glands function
-Characterized by chronic obstructive pulmonary disease
-Pancreatic exocrine deficiency

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27
Q

What is the newborn recommendation to prevent hemorrhagic disease?

A

Vitamin K
*administered SC or IV

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28
Q

What is the recommendation for Hepatitis B vaccine?

A

-At birth or first few weeks of life (1st injection)
*If mother is Hep b positive give vaccine and immunoglobulin
*If maternal hep B status is unknown give vaccine before 12 hours of age
*if mom was positive give HBIG

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29
Q

What is the most common nutritional deficiency in children?

A

Iron deficiency

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30
Q

What are the screening ages for iron deficiency?

A

-birth (within 3-6 hours) and 4 months if low birth weight or prematurity
- AAP universal screening in healthy term infants at 12 months

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31
Q

What are the supplemental recommendations for Anemia?

A

-Preterm infants with iron at one month of age
-Exclusively breastfed term infants start at 6 months of age

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32
Q

What are the risk factors for iron deficiency?

A

-Preterm or low-birth weight births
-Use of non-fortified formula or cows milk, goat milk, or soy milk before 12 months
-Infant diet that is low in iron containing foods
-Toddlers/preschoolers consuming >24oz/day cow’s milk or less than 3 servings iron rich foods

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33
Q

When is bedside glucose testing performed?

A

-when an infant is at high risk for hypoglycemia
-values below 45mg/dl should be confirmed by lab blood glucose test and treated

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34
Q

When is hearing screening done for infants?

A

Happens with every baby before they are discharge

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35
Q

What happens when a baby has hearing loss?

A

Hearing loss can lead to impairments in speech, language, and cognitive development
*infants who do not pass the hearing test should undergo evaluation before 3
*After early interventions are done by 6 months

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36
Q

What is an “A” recommendation for Gonococcal Ophthalmic Neonatorum?

A

Provide ocular prophylaxis to prevent gonococcal ophthalmia neonatorum in ALL newborns

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37
Q

What type of specific topical medication do you use for Gonococcal Ophthalmic Neonatorum?

A

Erythromycin ophthalmic ointment 0.5%
*Does NOT prevent chlamydia infection

38
Q

When should a newborn receive prophylaxis for Gonococcal Ophthalmic Neonatorum?

A

Within 24 hours after birth
*prefer within 1 hour

39
Q

When should an infant have their eye screening done?

A

It will be performed at every well child exam
*red flex
*Objective vision assessment starting at age 3

40
Q

What is the sign of red reflex abnormal?

A

Red reflex in one eye but the other eye has a white, yellow, or black tint

41
Q

What are three things to consider when handling geriatric patients?

A

Life expectancy
Time interval until benefit from screening accrues
Patient preference

42
Q

What is an AAA (Abdominal Aortic Aneurysm)?

A

-increase in the size of the abdominal aorta
*Most AAAs are asymptomatic until they rupture
*life threatening

43
Q

What size does does the aortic diameter have to be to be concerning?

A

3.0cm or >
* 1-Time screening ultrasound

44
Q

“B” recommendation for AAA (men)

A

Men ages 65-75 who have EVER smoked

45
Q

“C” recommendation for AAA (Men)

A

Men 65-75 who have NEVER smoked

46
Q

“I” recommendation for AAA (women)

A

Women 65-75 who have EVER smoked or FH of AAA

47
Q

“D” recommendation for AAA (women)

A

Women who have NEVER smoked

48
Q

What are the high risk factors for AAA

A

-male
-Older age >65
-Positive smoking or history
First degree relative with an AAA

49
Q

What is the “B” recommendation for adults and type 2 DM

A

Adults 35-70 who are overweight or obese with no symptoms of diabetes
* abnormal blood glucose is a modifiable risk factor of CV disease

50
Q

What is T2DM characterized by?

A

-Insulin resistance and insulin deficiency
*Screening test include: HgA1c, fasting glucose, or oral glucose tolerance test

51
Q

What is the criteria for diagnosing DM?

A

Fasting plasma glucose >126mg/dL

2 hour plasma glucose >200mg/dL during oral glucose tolerance test (OGTT)

Hemoglobin A1c>6.5%

52
Q

When is D2M actually confirmed?

A

-Diagnosis confirmed with repeat testing
*same test on a different day

53
Q

What is the “I” recommendation for adolescent idiopathic scoliosis?

A

No evidence to support screening of asymptomatic

54
Q

What are the common screening tests for adolescent idiopathic scoliosis?

A
  1. Forward bending test
  2. Scoiliometer
55
Q

What is the forward bending test?

A

-visual inspection of spine for asymmetry of shoulders, shoulder blades and hips
-patient stand with feet together and bends forward at the waist with arms hanging and palms touching

56
Q

What is the Scoliometer?

A

Measure the angle of trunk rotation
-Angle of trunk rotation of 5-7 degrees is often the threshold

57
Q

What is Cobb angle when dealing with scoliosis?

A

*Angle> 20 degrees observe without treatment
*Angle>30 degrees or 20-30 that progresses 5 degrees or more over 3-6 months=bracing
*Angle 40-50=bracing or surgery
*angle> 50=surgery

58
Q

What is the C rating for aspirin use to prevent CVD?

A

Adults 40-59 with.10% 10 year CVD risk should start low dose ASA for primary prevention

59
Q

What is the D rating for Aspirin use to prevent CVD?

A

Adults 60-69 with >10% 10 years CVD risk decision on individual basis

60
Q

What is an I rating for aspirin use to prevent CVD?

A

Adults 40-79 with>10% use of ASA for primary prevention

61
Q

What is the most beneficial age range to use a low-dose aspirin to prevent CVD and colorectal cancer?

A

50 to 59 years

62
Q

What is the dosage of aspirin to take to prevent CVD?

A

81mg/day (baby ASA)

63
Q

What is asymptomatic bacteriuria in adults?

A

The prescience of bacteria in the urine in a patient NOT having signs or symptoms of UTI
*Most common is Escherichia col

64
Q

What population of women are most common to have asymptomatic bacteriuria?

A

Pregnant women
*Pyelonephritis (most common non obstetrics reasons for hospitalizations in pregnant women)

65
Q

What is the B rating for asymptomatic bacteriuria in adults?

A

Screen all symptomatic pregnant women between 12-16 weeks with urine culture or first prenatal visit if later

66
Q

What is the D rating for asymptomatic bacteriuria in adults?

A

Do not screen asymptomatic men and non-pregnant women

67
Q

What is the diagnostic criteria for a positive urine culture for asymptomatic bacteriuria?

A

*Presence of 100,000 colony forming units per mL of urine
* Single uropathogen
*midstream clean catch specimen

68
Q

What is the I rating to screen for atrial fibrillation?

A

Screening asymptomatic adults

69
Q

What is the most common type of atrial fibrillation?

A

Cardiac arrhythmia

70
Q

What is the I rating for screening autism spectrum disorder in young children?

A

Screening in young children (18-30 months) when there are NO concerns of ASD

71
Q

What are the aspects of a developmental disorder?

A

*persistent and significant impairments in social interaction
*Communication impairment
*Restrictive and repetitive behaviors and activities

72
Q

What are the treatments for ASD?

A

Behavioral
Medical
Educational
Speech
Language
OT

73
Q

What causes bacterial vaginosis?

A

There is a disruption of the microbiological environment of the lower genital tact
* shift in flora to include a greater proportion of gerdneralla vaginalis

74
Q

What are the common symptoms of bacterial vaginosis?

A

White/gray/green, thin, homogenous discharge
*fishy/odor

75
Q

What is used to Diagnose bacterial vaginosis?

A

Amsels clinical criteria or gram stain
*vaginal pH>4.7
*The presence of clue cells on wet mount
*Thin homogeneous discharge
*Amine “fishy odor” when KOH is added to the discharge

Need 3/4

76
Q

What is the treatment for symptomatic pregnant women with bacterial vaginosis?

A

Oral or vaginal metronidazole or Clindamycin

77
Q

What is the D and I rating for screening pregnant women for bacterial vaginosis?

A

*Screening asymptomatic pregnant women are not at increased risk for pre termdelivery
*no evidence of a pre-term pregnancy in asymptomatic pregnant women

78
Q

What are the screening tests for bladder cancer?

A

*microscopic urinalysis for hematuria
*urine dipstick
*urine cytology
*urine bio markers

79
Q

What is the main treatment for bladder cancer?

A

Transurethral resection of the bladder tumor
Radiation, chemotherapy

80
Q

What is the I rating for screening children for blood pressure?

A

Insufficient to screen for primary HTN in asymptomatic children and adolescents to prevent CVD

81
Q

What is the first and second line to lower blood pressure?

A

Lifestyle changes
Medications
*Strongest risk factor is elevated BMI

82
Q

What are BRCA 1/2 genes related to?

A

Increased risk for breast, ovarian, Fallopian tube, and peritoneal cancer

83
Q

What can occur if there is a mutation in the BRCA 1/2?

A

Increases breast cancer risk to 45-65% by age 70

84
Q

What is the B rating for screen for the BRCA-related cancer?

A

Screen women whose family history may be associated with increase risk for BRCA mutations
*Members with breast, ovarian, tubal, or peritoneal cancer

85
Q

What are some of the interventions for BRCA-related cancer?

A

*earlier, more frequent, or intensive cancer screening
*risk-reducing medication
*Tamoxifen or Raloxifene
*risk reducing surgery

86
Q

What is the B rating for medication use for risk reduction of breast cancer?

A

Asymptomatic women>35 without a prior diagnosis whoa re at increased risk AND low risk for medication side effects should be offered risk reduction medication

87
Q

What are the medication taken to decrease positive breast cancer?

A

Tamoxifen
Raloxifen
Aromatase inhibitors

88
Q

What are the specific dosage of medication to reduce the risk of breast cancer?

A

Selective estrogen receptor modulators reduce risk for estrogen receptor positive breast cancer
*Tamoxifen 20mg: FDA approved for women age 35 or older (pre/postmenopausal)
*Raloxifen 60mg: FDA approved for use in postmenopausal women

89
Q

What is the B rating to screen women for breast cancer?

A

Asymptomatic women with no preexisting breast cancer and no risk factors receive biennial careening at age 50-74
C= prior to age 40-49

90
Q

What if the most important risk factor for breast cancer?

A

Increasing age