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