Newborn Screening Recommendations And USPSTF Flashcards
What is the criteria for screening across the lifespan?
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
How to screen for Neonates?
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
How many drops of neonate blood is needed to screen for a serious medical condition?
5 drops of blood
What are the different types of screening for newborns/
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
What is Phenylketonuria (PKU)?
Disorder that causes an amino acid called phenylaline to build up in the body
What happens if to much phenylaline builds up in the body?
It can cause intellectual disability
-since the body cannot break down the essential Amino acid
What is the screening test for PKU?
Guthrie test
-blood sample is placed on collection cards
How does one obtain PKU? (Genetics)
It is an autosomal recessive pattern
-both parents must pass on a defective gene
How is PKU treated?
-avoid eating proteins
- take a medical formula with amino acids expect phenylanine
What is galactosemia?
A genetic disorder that affects the ability to metabolize galactose
-There is an inability to use galactose to produce energy
How to treat galactosemia?
Use a low galactose diet to avoid toxicity
What is Congenital Adrenal Hyperplasia?
Defects in the enzymatic steps of cortisol formation
-affects the adrenal glands
Increase in ACTH
What happens when there is an increase in ACTH during CAH?
Leads to over secretion of steroids whose production does not require the enzyme
- androgens, estrogen
-increase adrenal androgenic hormones
- short heigh, early puberty
What are the effects of Congenital Adrenal Hyperplasia?
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
What are the screening techniques for Congenital hypothyroidism?
Primary TSH (thyroid stimulating hormone) with backup T4
Primary T4 with backup TSH
What happens when the thyroid stimulating hormone is low/high?
Low: hyperthyroidism
High; hypothyroidism
What happens to babies with congenital hypothyroidism?
Diminished physical/motor activity/poor muscle tone
Leads to growth and intellectual retardation
What is sickle cell disease?
RBC are dis-formed in a sickle shape
-the dis-formed RBC then cause roadblocks and gets stuck in the blood vessels
What is the correct terminology for an abnormal hemoglobin?
Hemoglobin s or sickle
What is the screening technique for sickle cell disease?
Hemoglobin electrophoresis
Infants with sickle cells should receive what type of treatment?
Prophylactic penicillin (2 months)
Pneumococcal immunizations
What is Critical congenital heart disease? (CCHD)
A group of serious heart defects that are present from birth
How to screen for critical congenital heart disease?
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
What is the possible reason for a failed pulse ox test?
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
What is the screening for cystic fibrosis?
Immunoreactive trypsin (IRT)
*preferred initial test
CF is confirmed with sweat chloride test
What are some of the characteristics of cystic fibrosis?
-A defect in mucus secretion and eccrine sweat glands function
-Characterized by chronic obstructive pulmonary disease
-Pancreatic exocrine deficiency
What is the newborn recommendation to prevent hemorrhagic disease?
Vitamin K
*administered SC or IV
What is the recommendation for Hepatitis B vaccine?
-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
What is the most common nutritional deficiency in children?
Iron deficiency
What are the screening ages for iron deficiency?
-birth (within 3-6 hours) and 4 months if low birth weight or prematurity
- AAP universal screening in healthy term infants at 12 months
What are the supplemental recommendations for Anemia?
-Preterm infants with iron at one month of age
-Exclusively breastfed term infants start at 6 months of age
What are the risk factors for iron deficiency?
-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
When is bedside glucose testing performed?
-when an infant is at high risk for hypoglycemia
-values below 45mg/dl should be confirmed by lab blood glucose test and treated
When is hearing screening done for infants?
Happens with every baby before they are discharge
What happens when a baby has hearing loss?
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
What is an “A” recommendation for Gonococcal Ophthalmic Neonatorum?
Provide ocular prophylaxis to prevent gonococcal ophthalmia neonatorum in ALL newborns
What type of specific topical medication do you use for Gonococcal Ophthalmic Neonatorum?
Erythromycin ophthalmic ointment 0.5%
*Does NOT prevent chlamydia infection
When should a newborn receive prophylaxis for Gonococcal Ophthalmic Neonatorum?
Within 24 hours after birth
*prefer within 1 hour
When should an infant have their eye screening done?
It will be performed at every well child exam
*red flex
*Objective vision assessment starting at age 3
What is the sign of red reflex abnormal?
Red reflex in one eye but the other eye has a white, yellow, or black tint
What are three things to consider when handling geriatric patients?
Life expectancy
Time interval until benefit from screening accrues
Patient preference
What is an AAA (Abdominal Aortic Aneurysm)?
-increase in the size of the abdominal aorta
*Most AAAs are asymptomatic until they rupture
*life threatening
What size does does the aortic diameter have to be to be concerning?
3.0cm or >
* 1-Time screening ultrasound
“B” recommendation for AAA (men)
Men ages 65-75 who have EVER smoked
“C” recommendation for AAA (Men)
Men 65-75 who have NEVER smoked
“I” recommendation for AAA (women)
Women 65-75 who have EVER smoked or FH of AAA
“D” recommendation for AAA (women)
Women who have NEVER smoked
What are the high risk factors for AAA
-male
-Older age >65
-Positive smoking or history
First degree relative with an AAA
What is the “B” recommendation for adults and type 2 DM
Adults 35-70 who are overweight or obese with no symptoms of diabetes
* abnormal blood glucose is a modifiable risk factor of CV disease
What is T2DM characterized by?
-Insulin resistance and insulin deficiency
*Screening test include: HgA1c, fasting glucose, or oral glucose tolerance test
What is the criteria for diagnosing DM?
Fasting plasma glucose >126mg/dL
2 hour plasma glucose >200mg/dL during oral glucose tolerance test (OGTT)
Hemoglobin A1c>6.5%
When is D2M actually confirmed?
-Diagnosis confirmed with repeat testing
*same test on a different day
What is the “I” recommendation for adolescent idiopathic scoliosis?
No evidence to support screening of asymptomatic
What are the common screening tests for adolescent idiopathic scoliosis?
- Forward bending test
- Scoiliometer
What is the forward bending test?
-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
What is the Scoliometer?
Measure the angle of trunk rotation
-Angle of trunk rotation of 5-7 degrees is often the threshold
What is Cobb angle when dealing with scoliosis?
*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
What is the C rating for aspirin use to prevent CVD?
Adults 40-59 with.10% 10 year CVD risk should start low dose ASA for primary prevention
What is the D rating for Aspirin use to prevent CVD?
Adults 60-69 with >10% 10 years CVD risk decision on individual basis
What is an I rating for aspirin use to prevent CVD?
Adults 40-79 with>10% use of ASA for primary prevention
What is the most beneficial age range to use a low-dose aspirin to prevent CVD and colorectal cancer?
50 to 59 years
What is the dosage of aspirin to take to prevent CVD?
81mg/day (baby ASA)
What is asymptomatic bacteriuria in adults?
The prescience of bacteria in the urine in a patient NOT having signs or symptoms of UTI
*Most common is Escherichia col
What population of women are most common to have asymptomatic bacteriuria?
Pregnant women
*Pyelonephritis (most common non obstetrics reasons for hospitalizations in pregnant women)
What is the B rating for asymptomatic bacteriuria in adults?
Screen all symptomatic pregnant women between 12-16 weeks with urine culture or first prenatal visit if later
What is the D rating for asymptomatic bacteriuria in adults?
Do not screen asymptomatic men and non-pregnant women
What is the diagnostic criteria for a positive urine culture for asymptomatic bacteriuria?
*Presence of 100,000 colony forming units per mL of urine
* Single uropathogen
*midstream clean catch specimen
What is the I rating to screen for atrial fibrillation?
Screening asymptomatic adults
What is the most common type of atrial fibrillation?
Cardiac arrhythmia
What is the I rating for screening autism spectrum disorder in young children?
Screening in young children (18-30 months) when there are NO concerns of ASD
What are the aspects of a developmental disorder?
*persistent and significant impairments in social interaction
*Communication impairment
*Restrictive and repetitive behaviors and activities
What are the treatments for ASD?
Behavioral
Medical
Educational
Speech
Language
OT
What causes bacterial vaginosis?
There is a disruption of the microbiological environment of the lower genital tact
* shift in flora to include a greater proportion of gerdneralla vaginalis
What are the common symptoms of bacterial vaginosis?
White/gray/green, thin, homogenous discharge
*fishy/odor
What is used to Diagnose bacterial vaginosis?
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
What is the treatment for symptomatic pregnant women with bacterial vaginosis?
Oral or vaginal metronidazole or Clindamycin
What is the D and I rating for screening pregnant women for bacterial vaginosis?
*Screening asymptomatic pregnant women are not at increased risk for pre termdelivery
*no evidence of a pre-term pregnancy in asymptomatic pregnant women
What are the screening tests for bladder cancer?
*microscopic urinalysis for hematuria
*urine dipstick
*urine cytology
*urine bio markers
What is the main treatment for bladder cancer?
Transurethral resection of the bladder tumor
Radiation, chemotherapy
What is the I rating for screening children for blood pressure?
Insufficient to screen for primary HTN in asymptomatic children and adolescents to prevent CVD
What is the first and second line to lower blood pressure?
Lifestyle changes
Medications
*Strongest risk factor is elevated BMI
What are BRCA 1/2 genes related to?
Increased risk for breast, ovarian, Fallopian tube, and peritoneal cancer
What can occur if there is a mutation in the BRCA 1/2?
Increases breast cancer risk to 45-65% by age 70
What is the B rating for screen for the BRCA-related cancer?
Screen women whose family history may be associated with increase risk for BRCA mutations
*Members with breast, ovarian, tubal, or peritoneal cancer
What are some of the interventions for BRCA-related cancer?
*earlier, more frequent, or intensive cancer screening
*risk-reducing medication
*Tamoxifen or Raloxifene
*risk reducing surgery
What is the B rating for medication use for risk reduction of breast cancer?
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
What are the medication taken to decrease positive breast cancer?
Tamoxifen
Raloxifen
Aromatase inhibitors
What are the specific dosage of medication to reduce the risk of breast cancer?
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
What is the B rating to screen women for breast cancer?
Asymptomatic women with no preexisting breast cancer and no risk factors receive biennial careening at age 50-74
C= prior to age 40-49
What if the most important risk factor for breast cancer?
Increasing age
