Neonatal Medicine and Genetic Syndromes

Question 1

what is the name for the syndrome that results from sudden discontinuation of fetal exposure of substances abused by the mother?

Answer 1

Neonatal Abstinence Syndrome (NAS)

Question 2

What are the clinical manifestations of NAS?

Answer 2

• 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

Question 3

what is the typical onset for NAS?

Answer 3

24-72

Question 4

what is the most commonly used substance to treat NAS?

Answer 4

morphine

(prolongs hospitalization)

Question 5

what is contraindicated in NAS?

Answer 5

naloxone

Question 6

what are the complications of maternal diabetes?

Answer 6

macrosomia

prematurity

hypoglycemia-hyperinsulinemia

respiratory distress

congenital anomalies (DM early in preg.)

Question 7

what is the leading cause of birth defects and dd?

Answer 7

fetal alcohol syndrome

Question 8

what is the pathology of FAS?

Answer 8

frontal lobe CNS effect (irreversible)

reduces brain volume and functioning

inefficient elimination–>alcohol exposure

no “safe” threshold for alcohol consumption identified

Question 9

what are the effects of alcohol exposure during the first trimester?

Answer 9

facial anomalies

major structural anomalies

brain anomalies

Question 10

what are the effects of alcohol exposure in the second trimester?

Answer 10

spontaneous abortion

Question 11

what is the effect of alcohol exposure in the third trimester?

Answer 11

affects weight, length, brain growth

Question 12

what are the criteria for diagnosing FAS?

Answer 12

small palpebral features, smooth philitrum, thin upper lip (must have ALL 3)

documentation of growth deficits

documentation of CNS abnormality

Question 13

what are the signs of respiratory distress in the newborn?

Answer 13

tachypnea

nasal flaring

grunting

retractions (suprasternal, intercostal, subcostal)

Question 14

what is the cause of transient tachypnea of the newborn?

Answer 14

impaired fetal lung fluid clearance

risks: prematurity, c-section

Question 15

what is the treatment for transient tachypnea of the newborn?

Answer 15

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

Question 16

what is respiratory distress syndrome/hyaline membrane disease?

Answer 16

respiratory distress with cyanosis (central) due to surfactant deficiency or dysfunction

pulmonary edema develops - relative oliguria

Question 17

what distinguishes TTN and RDS?

Answer 17

central cyanosis

ground glass pattern on cxr (RDS)

Question 18

what percentage of babies born with meconium staining go on to develop MAS?

Answer 18

10%

Question 19

how is apena of prematurity defined?

Answer 19

cessation of breathing for 15 seconds

cessation of breathing accompanying a bradycardia and desaturation

Question 20

what is the clinical presentation of Turner Syndrome?

Answer 20

lymphadema (swelling in hands and feet)

webbed neck

low set ears

low hairline

broad chest with wide-spaced nipples

higher incidence of hip dysplasia

Question 21

what is Kleinfelter syndrome?

Answer 21

XXY

1:500 male births (rarely diagnosed before puberty)

Question 22

what are the clinical manifestations of Kleinfelter’s syndrome?

Answer 22

microorchidism, with otherwise normal male genitalia

azoospermia, sterility

gynecomastia

dimihsed facial hair

normal to borderline normal intelligence

Question 23

what are the three general categories for metabolic disorders?

Answer 23

1. intoxication
2. energy failure
3. complex molecules

Question 24

what do noisy breathing sounds suggest in the infant?

Answer 24

Question 25

what are the xray findings in TTN?

Answer 25

* diffuse parenchymal infiltrates in the interstitium * fluid in the interlobar fissure * occasionally pleural effusions

Question 26

what are the risk factors for RDS?

Answer 26

prematurity perinatal asphyxia maternal diabetes absence of maternal steriod administration

Question 27

what are the characteristic findings on xray for RDS?

Answer 27

ground glass pattern infiltrates low lung volumes

Question 28

what is the clinical presentation of RDS?

Answer 28

marked respiratory distress and cyanosis within first hours of life

Question 29

what is the treatment for RDS?

Answer 29

* 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.

Question 30

what is Meconium Aspiration Syndrome (MAS)?

Answer 30

occurs when fetus passes meconium before birth and aspirate it in utero or immediately after birth

Question 31

how do you diagnose MAS?

Answer 31

meconium stained amniotic fluid and respiratory distress without other known cause

Question 32

what is the treatment for MAS?

Answer 32

02 supplmentation CPAP or mechanical ventilation exogenous surfactant ECMO? \*routine suctioning no longer recommended as prevention

Question 33

What is PPH?

Answer 33

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

Question 34

what is the clinical presentation of PPH?

Answer 34

respiratory distress and cyanosis within hours of birth pulse oximetry showing differential cyanosis between pre-ductal and post-ductal (often 10% or more)

Question 35

what is the treatment for PPH?

Answer 35

echo to rule out structural heart disease mechanical ventilation cardiotonic therapy (inotropes) inhaled NO ECMO

Question 36

what is the treatment for apnea of prematurity?

Answer 36

usually gets better with age, but if necessary, can treat with CPAP and Methlyxanthines (Theophylline or Caffeine)

Question 37

What is the incidence of congenital diaphragmatic hernia?

Answer 37

1:2500 to 1:7000 live births 80-85% left side

Question 38

what are the 5 cyanotic congenital heart lesions?

Answer 38

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)

Question 39

What are the TORCH infections?

Answer 39

Toxoplasmosis Other (Syphilis, HIV, Hep B, Varicella Zoster, Parvovirus B19) Rubella CMV HSV

Question 40

what findings in neonates should lead you to consider TORCH infections?

Answer 40

microcephaly intracranial calcifications rash IUGR Jaundice/Hepatomegaly Elevated transaminase

Question 41

what is NEC (necrotizing enterocolitis)?

Answer 41

acute inflammatory necrosis of the bowel primarily affecting premature infants Klebsiella, E. coli, clostridia, coag negative staph, rotavirus

Question 42

what are the clinical manifestations of NEC?

Answer 42

abdominal distension, feeding intolerance (emesis, increased residuals), hematochezia, discoloration of skin also (temp. instability, apnea, lethargy, poor perfusion, hypotension)

Question 43

what is the diagnostic radiographic hallmark of NEC?

Answer 43

penumatosis intesinalis (free air) portal venous gas can also see pneumoperitoneum (football sign)

Question 44

what is the treatment for NEC?

Answer 44

treat organism, supportive surgery for dead/ischemic bowel

Question 45

what are the common causative organisms of neonatal sepsis?

Answer 45

Group B strep E. Coli Listeria monocytogenes (mc cause - aspiration of vaginal bacteria)

Question 46

what are the clinical manifestations of neonatal sepsis?

Answer 46

respiratory distress apnea fever or temperature instability poor feeding cyanosis neurologic abnormalities - seizures

Question 47

what is the treatment for neonatal sepsis?

Answer 47

empirirc therapy against early onset (gram+ and gram-)

Question 48

what is the frequency of Down Syndrome?

Answer 48

1:700 births mostly due to nondisjunction 1-2%

Question 49

what additional diseases are children with Trisomy 21 at risk for?

Answer 49

* congenital heart disease * thyroid (hypo or hyper) * ophthalmologic disorders (refractive errors, strabismus, nystagmus, cataracts) * hearing loss (both types * atlanto-axial instability/late hip dislocation

Question 50

what is transient myeloproliferative disorder?

Answer 50

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

Question 51

what are some of the lesser-known additional management steps for Down Syndrome patients?

Answer 51

echocardiogram - at birth and adolescents to check for MVP thyroid - birth, 6 months, then yearly diet - low calorie, high fiber (prone to obesity)

Question 52

how do you manage Turner syndrome?

Answer 52

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

Question 53

what are the clincial manifestations of klinefelter syndrome?

Answer 53

microorchidism with otherwise normal male genitalia azoospermia, sterility gynecomastia diminshed facial hair normal to borderline intelligence