Neonatal Medicine and Genetic Syndromes Flashcards
what is the name for the syndrome that results from sudden discontinuation of fetal exposure of substances abused by the mother?
Neonatal Abstinence Syndrome (NAS)
What are the clinical manifestations of NAS?
- hyperirritability/high-ptiched excessive crying
- tremors
- Gi disturbances - v/d
- hypertonia
- feeding difficulties
- autonomic dysfunction (sweating, fever, mottling, yawning)
- FTT
- seizures in 2-11% of infants with NAS
what is the typical onset for NAS?
24-72
what is the most commonly used substance to treat NAS?
morphine
(prolongs hospitalization)
what is contraindicated in NAS?
naloxone
what are the complications of maternal diabetes?
macrosomia
prematurity
hypoglycemia-hyperinsulinemia
respiratory distress
congenital anomalies (DM early in preg.)
what is the leading cause of birth defects and dd?
fetal alcohol syndrome
what is the pathology of FAS?
frontal lobe CNS effect (irreversible)
reduces brain volume and functioning
inefficient elimination–>alcohol exposure
no “safe” threshold for alcohol consumption identified
what are the effects of alcohol exposure during the first trimester?
facial anomalies
major structural anomalies
brain anomalies
what are the effects of alcohol exposure in the second trimester?
spontaneous abortion
what is the effect of alcohol exposure in the third trimester?
affects weight, length, brain growth
what are the criteria for diagnosing FAS?
small palpebral features, smooth philitrum, thin upper lip (must have ALL 3)
documentation of growth deficits
documentation of CNS abnormality
what are the signs of respiratory distress in the newborn?
tachypnea
nasal flaring
grunting
retractions (suprasternal, intercostal, subcostal)
what is the cause of transient tachypnea of the newborn?
impaired fetal lung fluid clearance
risks: prematurity, c-section
what is the treatment for transient tachypnea of the newborn?
supportive
may require supplemental o2
CPAP may be necessary to drive fluid into circulation
course is self-limited and does not usually require mechanical ventilation
what is respiratory distress syndrome/hyaline membrane disease?
respiratory distress with cyanosis (central) due to surfactant deficiency or dysfunction
pulmonary edema develops - relative oliguria
what distinguishes TTN and RDS?
central cyanosis
ground glass pattern on cxr (RDS)
what percentage of babies born with meconium staining go on to develop MAS?
10%
how is apena of prematurity defined?
cessation of breathing for 15 seconds
cessation of breathing accompanying a bradycardia and desaturation
what is the clinical presentation of Turner Syndrome?
lymphadema (swelling in hands and feet)
webbed neck
low set ears
low hairline
broad chest with wide-spaced nipples
higher incidence of hip dysplasia
what is Kleinfelter syndrome?
XXY
1:500 male births (rarely diagnosed before puberty)
what are the clinical manifestations of Kleinfelter’s syndrome?
microorchidism, with otherwise normal male genitalia
azoospermia, sterility
gynecomastia
dimihsed facial hair
normal to borderline normal intelligence
what are the three general categories for metabolic disorders?
- intoxication
- energy failure
- complex molecules
what do noisy breathing sounds suggest in the infant?
what are the xray findings in TTN?
- diffuse parenchymal infiltrates in the interstitium
- fluid in the interlobar fissure
- occasionally pleural effusions
what are the risk factors for RDS?
prematurity
perinatal asphyxia
maternal diabetes
absence of maternal steriod administration
what are the characteristic findings on xray for RDS?
ground glass pattern infiltrates
low lung volumes
what is the clinical presentation of RDS?
marked respiratory distress and cyanosis within first hours of life
what is the treatment for RDS?
- mild cases may respond to CPAP
- more severe may require mechanical ventilation
- diuresis
- exogenous surfactant is possible, but no clear guidelines
Antenatal corticosteroids: Improve lung maturity. Betamethasone
and dexamethasone cross the placenta readily and improve mortality
if given > 24-48 hours prior to delivery; however, they are of unknown
benefit after 34 weeks’ GA. Administration of> 3 courses of antenatal
corticosteroids is associated with -ve neurologic outcome and growth.
• Empiric antibiotic therapy: Sepsis and congenital pneumonia may be
indistinguishable from RDS early on.
• Optimize thermoregulation to reduce further cold stress; optimize nutrition.
what is Meconium Aspiration Syndrome (MAS)?
occurs when fetus passes meconium before birth and aspirate it in utero or immediately after birth
how do you diagnose MAS?
meconium stained amniotic fluid and respiratory distress without other known cause
what is the treatment for MAS?
02 supplmentation
CPAP or mechanical ventilation
exogenous surfactant
ECMO?
*routine suctioning no longer recommended as prevention
What is PPH?
failure to acheive or sustain the normal post-natal decrease in pulmonary vascular resistance
leads to right-to-left shunting across the da or fo causing hypoxemia
what is the clinical presentation of PPH?
respiratory distress and cyanosis within hours of birth
pulse oximetry showing differential cyanosis between pre-ductal and post-ductal (often 10% or more)
what is the treatment for PPH?
echo to rule out structural heart disease
mechanical ventilation
cardiotonic therapy (inotropes)
inhaled NO
ECMO
what is the treatment for apnea of prematurity?
usually gets better with age, but if necessary, can treat with
CPAP and Methlyxanthines (Theophylline or Caffeine)
What is the incidence of congenital diaphragmatic hernia?
1:2500 to 1:7000 live births
80-85% left side
what are the 5 cyanotic congenital heart lesions?
The terrible “Ts”
- Tetralogy of Fallot
- Transposition of the great vessels (aorta and pulmonary)
- total anomalous pulumonary venous return
- tricuspid atresia
- truncus arteriosis (pulmonary and aorta merged)
What are the TORCH infections?
Toxoplasmosis
Other (Syphilis, HIV, Hep B, Varicella Zoster, Parvovirus B19)
Rubella
CMV
HSV
what findings in neonates should lead you to consider TORCH infections?
microcephaly
intracranial calcifications
rash
IUGR
Jaundice/Hepatomegaly
Elevated transaminase
what is NEC (necrotizing enterocolitis)?
acute inflammatory necrosis of the bowel primarily affecting premature infants
Klebsiella, E. coli, clostridia, coag negative staph, rotavirus
what are the clinical manifestations of NEC?
abdominal distension, feeding intolerance (emesis, increased residuals), hematochezia, discoloration of skin
also (temp. instability, apnea, lethargy, poor perfusion, hypotension)
what is the diagnostic radiographic hallmark of NEC?
penumatosis intesinalis (free air)
portal venous gas
can also see pneumoperitoneum (football sign)
what is the treatment for NEC?
treat organism, supportive
surgery for dead/ischemic bowel
what are the common causative organisms of neonatal sepsis?
Group B strep
E. Coli
Listeria monocytogenes
(mc cause - aspiration of vaginal bacteria)
what are the clinical manifestations of neonatal sepsis?
respiratory distress
apnea
fever or temperature instability
poor feeding
cyanosis
neurologic abnormalities - seizures
what is the treatment for neonatal sepsis?
empirirc therapy against early onset (gram+ and gram-)
what is the frequency of Down Syndrome?
1:700 births
mostly due to nondisjunction
1-2%
what additional diseases are children with Trisomy 21 at risk for?
- congenital heart disease
- thyroid (hypo or hyper)
- ophthalmologic disorders (refractive errors, strabismus, nystagmus, cataracts)
- hearing loss (both types
- atlanto-axial instability/late hip dislocation
what is transient myeloproliferative disorder?
accumulation of immature blasts in peripheral blood, liver and bone marrow
1:10 Down Syndrome
presents by 3 weeks (usually)
can cause hepatic dysfunction/fibrosis, renal failure
what are some of the lesser-known additional management steps for Down Syndrome patients?
echocardiogram - at birth and adolescents to check for MVP
thyroid - birth, 6 months, then yearly
diet - low calorie, high fiber (prone to obesity)
how do you manage Turner syndrome?
renal ultrasound for abnmls
echocardiogram
hearing
congenital glaucoma (check)
endocrinology- check thyroid, IBD and celiac more common
estrogens in early teen years to stimulate 2ndary sex char
what are the clincial manifestations of klinefelter syndrome?
microorchidism with otherwise normal male genitalia
azoospermia, sterility
gynecomastia
diminshed facial hair
normal to borderline intelligence
