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*Review TD 2020 > Newborn/NICU + Gene + Met > Flashcards

Newborn/NICU + Gene + Met Flashcards

1
Q

Trisomy 18

A

Edwards Syndrome

*Rockerbottom feet

IUGR
Hypertonia
prominent occiput
small mouth
micrognathia
pointy ears
short sternum
horseshoe kidney
flexed fingers (index finger overlapping the 3rd finger and the 5th finger overlapping the 4th
Congenital heart disease (valvular involvement, VSD, PDA)
GI involvement (Meckel diverticulum, malrotation, Omphalocele)

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2
Q

Trisomy 13

A

Patau Syndrome

Classic triad:
micro/anophthalmia
cleft lip and/or palate
postaxial polydactyly

*Cutis aplasia
Normal weight

CNS: Holoprosencephaly with incomplete development of forebrain and olfactory and optic nerves, severe intellectual disability, deafness

Craniofacial: Abnormal auricles, microphthalmia/anophthalmia, colobomata, sloping forehead (fissure or cleft of the iris, ciliary body, or choroid)

Skin and limbs – Capillary hemangiomata, simian crease, hyperconvex narrow fingernails, polydactyly of hands and sometimes feet, prominent heel

Cardiac – VSD, PDA, ASD, dextroposition

Genitalia – Cryptorchidism in males; bicornuate uterus in females

Less common:
●Growth – Prenatal growth deficiency
●CNS – Hyper- or hypotonia, agenesis of corpus callosum, cerebral hypoplasia
●Eyes – Hypo- or hypertelorism, cyclopia, upslanting palpebral fissures
●Nose, mouth, mandible – Absent philtrum, narrow palate, micrognathia
●Hands and feet – Retroflexible thumb, syndactyly, cleft between first and second toes, hypoplastic toenails, radial aplasia
●Abdomen – Omphalocele, incomplete rotation of colon, Meckel diverticulum
●Renal – Polycystic kidney, hydronephrosis, horseshoe kidney

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3
Q

Antenatal steroid

  • when
  • why
A

<34 weeks

lung development
IVH
NEC
mortality

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4
Q

Antenatal magnesium sulphate

A

<32 weeks

neuroprotection (cerebralpalsy)

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5
Q

Associations:

A. Maternal Graves disease
B. Maternal diabetes mellitus 
C. Maternal hyperparathyroidism 
D. Maternal SLE 
E. Maternal vitamin D deficiency
A

A. Maternal Graves disease – hyperthyroidoism
B. Maternal diabetes mellitus – hypoglycemia, renal vein thrombosis
C. Maternal hypoparathyroidism – hyponatremia
D. Maternal SLE – heart block
E. Maternal vitamin D deficiency – hypocalcemia

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6
Q

William Syndrome

A

Elfin facies
irritability
supra-valvular aortic stenosis

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7
Q

Russell Silver Syndrome

A

IUGR, triangular-shaped face, clinodactyly

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8
Q

Noonan Syndrome

A

(similar to turner but no chrom abnormalities)
Short stature
webbed neck
pulmonic stenosis

epicanthal folds
ptosis
low nasal bridge, upturned nose
dental malocclusion
nystagmus
myopia
hypertrophic cardiomyopathy
cognitive delay
ASD, VSD
shield chest
lymphedema 
high arched palate
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9
Q

Congenital Myotonia

A

Weakness, club feet, tented mouth, inadequate respirations

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10
Q

Uncontrolled gestation DM - associations

A

RDS
Hypoglycemia
LGA

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11
Q

Risk fo preterm delivery

A 
• SES status
– <20or>40years
– Very low SES, Low BMI
• Past Gyne/OB
- Pyelonephritis
- Uterine / cervical anomalies
- Multiple abortions
- Preterm delivery
• Lifestyle
– > 10 cigarettes/day 
– Heavy work
• Pregnancy – Multiples
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12
Q

Risk of IUGR

A 
• Maternal
– Hypertensive, preeclampsia
– Renal disease
– Diabetes
– Antiphospholipid syndrome
– Severe nutrition deficiency
– Smoking / substances
– Maternal hypoxia (CHD, lung)
• Fetal
– Multiple gestation
– Placental abnormalities
– Infection (viral)
– Congenital anomaly, chromosomes
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13
Q

IUGR – oligohydramnios or polyhydramnios?

A

Oligo

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14
Q

Vit K Prophylaxis

A

0.5mg (<1500g) or 1mg (>1500g) IM in first 6 hours of life

Oral alternative if parents refuse (less optimal):
• 2mg at 1st feed, repeat at 2-4 weeks and 6-8 weeks

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15
Q

Vit K deficiency bleeding

  • types
  • tx
A

Early VKDB
– 1st 24 hours
due to maternal medication

Classic VKDB
- preventable by VitK prophylaxis
– bleeding 1st wk of life

LateVKDB
– bleeding 2nd-12th wk of life up to 6 months
– Exclusive breastfeeding, no Vit K (or only 1 oral dose!), fat malabsorption

Treatment of VKDB: VitaminK, FFP

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16
Q

What type of vit K def bleeding is due to no prohphylaxis

A

Classic - 1st week

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17
Q

What are the shunts in fetal circulation

A 
1. Ductus Venosus
UV -> IVC
2. Foramen Ovale
RA -> LA
3. Ductus Arteriosus
PA -> Ao
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18
Q

Advantages of Breastfeeding

A

prevent SIDS,
enhance cognitive development, social,
immune / allergy / infection (IgA, WBC, bifidus factor)

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19
Q

CCHD screening - where are the sat probes

A

right hand

either foot

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20
Q

Who meets criteria for therapeutic cooling

A

<6h old
≥36 weeks GA

Meets (A or B) and C:

A: Cord pH ≤7.0 or base deficit ≥−16

B.
 pH 7.01 to 7.15 or base deficit −10 to −15.9 on cord gas or 
blood gas within 1 h AND

  1. 
Hx of acute perinatal event (ex: cord prolapse, plac abruption or uterine rupture) AND
  2. Apgar score ≤5 at 10 minutes or at least 10 minutes of 
PPV

C. Evidence of moderate-to-severe encephalopathy, demonstrated by the presence of seizures OR at least one sign in three or more of the six categories

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21
Q

Side effects of cooling

A

Sinus bradycardia (80-100 bpm)
Hypotension with possible need for inotropes
Mild thrombocytopenia
Persistent pulmonary hypertension with impaired oxygenation
Hypothermia can also prolong bleeding time
Subcutaneous fat necrosis, with or without hypercalcemia, has been reported as a potential rare complication
Infants with HIE, whether they receive therapeutic hypothermia or not, are more prone to

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22
Q

Temp for whole body cooling?

A

rectal temp of 33.5°C ± 0.5°C

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23
Q

How long to cool for and how fast to rewarm

A

Cool 72 hours then rewarm 0.5°C q1-2h

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24
Q

Outcomes of HIE

A

Cerebral palsy or severe disability in > 30%

Severe visual impairment or blindness in up to 25%

Sensorineural hearing loss

Cognitive deficits (partic difficulties with reading, spelling and arithmetic) in 30-50%

Behavioural difficulties, such as hyperactivity and emotional problems

Childhood epilepsy in 13% of mod-sev

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25
Q

Survival rates for <22wga to 26wga

A 
Survival
<22wga: extremely rare
22+0-6: 18%
23+0-6: 41%
24+0-6: 67%
25+0-6: 79%
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26
Q

What gestational age do we use plastic bags

A

<32wga

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27
Q

Pierre Robin Sequence

A

micrognathia
glossoptosis
airway obstruction

often assoc w Cleft palate (don’t need to have)

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28
Q

Risk factors for RDS

A

Prematurity
IDM
Asphyxia

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29
Q

Surfactant therapy - benefits

A 
Decreases:
mortalitiy
pneumothorax
PIE
duration of vent suport
LOS
Hospital costs

(No effect on IVH, BPD, NEC, ROP)

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30
Q

How to fix oxygenation on a vent

A

FiO2

PEEP

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31
Q

How to fix CO2 on a vent

A

PIP and RR

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32
Q

BPD definition

A

Oxygen dependence beyond 28 days or at 36 weeks post- gestational age

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33
Q

LBW
VLBW
ELBW

A

LBW < 2500g
VLBW < 1500g
ELBW <1000g

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34
Q

Complications of prematurity

A 
– Apnea of prematurity 
- Respiratory distress syndrome
– Chronic lung disease 
- Patent Ductus Arteriosus
– Intraventricular hemorrhage 
- Anemia requiring transfusions
– Sepsis, Necrotizing enterocolitis 
- Retinopathy of prematurity
– Neurodevelopment ( CP, cognitive, hearing, blindness, learning disability, behaviour)
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35
Q

Apnea definition

A

cessation of breathing 20 seconds or 10-20s with bradycardia (<80)

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36
Q

ROP screening

A

GA < 30 6/7 weeks OR Birth weight < 1250 g

At 4 weeks of age (>26+6) After 31 weeks for (<26+6)

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37
Q

Xray features of NEC

A

pneumatosis intestinal
porta venous distension
pneumoperitoneum

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38
Q

Long term complications of NEC

A

Short gut (surgical), stenosis/obstruction, recurrence

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39
Q

Sarnat Scoring

A

Sarnat 1
Hyperalert, hypertonic, tachycardia, hyperactive reflexes

Sarnat 2
Lethargic, flexed posture, mild hypotonia, weak moro, seizures, bradycardia, hyperactive reflexes

Sarnat 3
Stuporous, flaccid, no reflexes

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40
Q

Therapeutic cooling hypothermia criteria

A

at least 35 wga

Criteria A or B AND C
A. Cord pH ≤7 or BD ≥-16
OR
B. pH 7.01 – 7.15 of -10 to -16 (cord or 1 hour gas)
AND Hx of acute perinatal event AND APGAR ≤ 5 at 10m or at least 10m of PPV

C. Signs of moderate to severe encephalopathy

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41
Q

When to initiate therapeutic cooling

Temp goal

A

within 6 hours

33-34 deg C

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42
Q

When to image and what to look for

A

After rewarming at day 3-5
Can repeat 10-14 days

• Basal ganglia / thalamus / PLIC
= motor + cognitive
• Watershed areas = more cognitive than motor

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43
Q

Erb’s Palsy

  • when to refer
A

C5, 6, 7
possibly phrenic - resp depression

refer at 1 month

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44
Q

Klumpke

A

C8-T1

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45
Q

Horner

  • char
  • tx
A

C5-T1
ptosis
meiosis

observe q1month
refer to surf If present at 3mo

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46
Q

Hyperinsulinism - who at risk

A

IDM
BWS
SGA

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47
Q

Urea cycle defect:

Organic acidemias:

A

Urea cycle defect: normal gas – high ammonia

Organic acidemias: acidotic +/- high ammonia

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48
Q

normal gas – high ammonia

acidotic +/- high ammonia

A

Urea cycle defect: normal gas – high ammonia

Organic acidemias: acidotic +/- high ammonia

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49
Q

Neonatal unconjugated jaundice

A 
– Dehydration
– ‘Breastmilk’ 
– Infection
– Polycythemia 
– Hemolysis
– Endocrinopathies
– Extravascular blood 
– Geneticdisorders
– Increased enterohepatic circulation (GI obstruction, delayed meconium)
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50
Q

Neonatal conjugated jaundice

A 
– Extrahepatic obstructive
• Biliary atresia, choledochal cysts
– Bacterial infection
– TORCH
– Neonatal hepatitis
• viral, bacterial, parasitic,
idiopathic 
– Metabolic:
• alpha-1 antitrypsin, IEM, endocrinopathies, CF, Iron storage disease, bile acid synthesis defects
– Cholecystasis syndromes 
• Dubin Johnson, Byler
– Toxic: hyperalimentation
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51
Q

Red Flags for hyperbilirubinemia

Workup

A

Onset before 24 hours Hemolysis is a predictor of severity Pallor, Unwell Hepatosplenomegaly
Pale stools, dark urine Conjugated hyperbilirubinemia

Total and conjugated bilirubin
CBC, blood group, Coombs test
\+/- G6PD, blood film
Liver function, 
Metabolic / Endocrine workup MRI if signs of acute encephalopathy
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52
Q

Cutoffs for severe and critical hyperbili

A

Severe: TSB > 340 umol/L in 1st 28d

• Critical: TSB > 425 umol/L in 1st 28d

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53
Q

Kleihauer test - what does it do

A

Checks mom’s blood for fetal hb

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54
Q

Causes of thrombocytopenia in newborn

A

– Infection: bacterial, TORCH
– Neonatal alloimmune thrombocytopenia
– Other maternal causes
• toxemia, ITP, SLE, Drugs (hydralazine, thiazides)
– Consumption: DIC, Kassabach-Merrit (hemangioma)
– Syndromes: IUGR, TAR, Fanconi’s
– Bone marrow suppression: pancytopenia, leukemia

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55
Q

TEF - polyhydramnios or oligohydramnios?

A

poly

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56
Q

Causes of symmetrical IUGR

A

Infection

chromosomal, genetic, malformation, teratogenic, infectious, or severe maternal hypertensive etiologies.

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57
Q

Causes of asymmetrical IUGR

A

Poor maternal nutrition

Late onset or exacerbation of maternal vascular disease (preeclampsia, chronic hypertension).

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58
Q

Most common cause of hypertension int he newborn

A

Renovascular

59
Q

CXR - RDS

A

Ground glass opacities/Diffuse Reticulogranular pattern
Air bronchograms
Low lung volumes

60
Q

Polycythemia - who is at risk

A 
SGA
Post term
IDM
Twin to twin transfusions 
T21, T18, T13
Placental insufficiency - pre eclampsia, maternal hypertension
61
Q

Definition of polycythemia

When to treat

A

Hct > 0.65

Treat if
>0.70 and symptomatic
>0.75 and asymptomatic

62
Q

PPHN tx

A

(1) minimal stimulation
(2) sedation and analgesia with a narcotic agent and a benzodiazepine (avoid muscle paralysis if possible)
(3) maintain preductal oxygen saturation in the low to mid-90s and postductal saturations above 70% as long as metabolic acidosis, lactic acidosis, and/or oliguria are not present
(4) lung recruitment with adequate PEEP or mean airway pressure and/or surfactant to maintain 8- to 9-rib expansion during inspiration
(5) maintain adequate blood pressure and avoid supraphysiological systemic pressure

63
Q

When does PVL occur

A

24-32 weeks gestation

64
Q

Conditions associated w choanal atresia/stenosis

A 
CHARGE
Apert
Crouzon
Velocardiofacial
Treacher Collins
T18
65
Q

Sacral agencies associated with?

A

IDM

66
Q

22q11 deletion syndrome
characteristics
how to dx

A

§Cleft palate
§Thymic hypoplasia
§Cardiac defects- conotruncal (TOF, IAA, VSD, TA)
§Hypoparathyroidism

FISH

67
Q

William syndrome

characteristics

A
  • Idiopathic hypercalcemia
  • CHD – supravalvular aortic stenosis
  • Hypertension (renal artery stenosis / essential HTN)
  • Developmental delay –
    • Receptive language delay
    • Visuospatial difficulties
  • Personality- ++ friendly
  • Attention deficit, anxiety

full lips
broad forehead, short palpebral fissures, low nasal bridge, anteverted nostrils, long filtrum, full cheeks, and relatively large and often downturned mouth.

68
Q

X linked inheritance who can pass to who

A

Female to male

no male to Male

69
Q

Fragile X

  • genetics
  • gene

characteristics
- what type of cardiac

A

CGG trinucleotide repeat
FMR1
Full mutation >200

Intellectual disability
Macroorchidism
Gaze avoidance
Persevered speech
Family history of premature ovarian failure
Macrocephaly
ADHD,Anxiety, Autism
Hyperextensible joints
Long wide protruding ears

MVP

70
Q

Prader Willi Syndrome

A

Initial failure-to-thrive
Severe hypotonia
Cryptorchidism
Hyperphagia

71
Q

Beckwith Weidemann Syndrome

Triad
Monitor

A

Triad of:
E – exomphalos
M - macroglossia
G – gigantism

hemihypertrophy
macrosomia

Monitor:
AFP- hepatoblastoma
US – Wilms tumour
Renal ultrasounds - nephrocalcinosis

72
Q

Bloodwork for presentation of IEM

A

Plasma Amino acids
Plasma Acylcarnitine
Urine Organic acids

73
Q

Ectopia lentis

A

Homocystinuria

- check AA

74
Q

Rett Syndrome (5 char)

A

1) developmental regression
2) loss of purposeful hand movements
3) stereotypic hand movements (wringing, squeezing, clapping, mouthing, rubbing)
4) Loss of acquired spoken language
5) gait abnormalities

75
Q

Fetal alcohol syndrome

  • characteristics
  • cardiac?
A 
Smooth philtrum
Short palpebral fissues
Short nose
Thin upper lip
Epicanthal folds
Low nasal bridge
Micrognathia

Microcephaly
Developmental delay
Low IQ
ASD/VSD/conotruncal defects

76
Q

Turner syndrome Characteristics

A
  • Short stature
  • Cardiac: bicuspid aortic valve, coarctation
  • Horseshoe kidneys
  • Streak ovaries - 1ary amenorrhea
  • Recurrent OM
  • Cubitus valgus
  • Lymphedema
  • Short webbed neck
  • Shield chest, wide spaced nipples
  • Low posterior hairline
  • Lowset eats and malformed lobes
  • High arch palate
  • short 4th metacarpal

Autoimmune
Thyroid disease
Celiac disease

77
Q

Hydantoin syndrom

A

Hypoplastic nails/fingers

carb or pheny

78
Q

First month screening in T21

A

· CBC, diff smear
· TSH, T4
· Echocardiogram
· Universal newborn hearing screen

79
Q

T21 1m-1y screening

A

· Repeat hearing test at 6 months
· Repeat TSH at 6 months and 1 year
· Refer to Ophthalmology within the first 6 months
· Discuss sx of OSA
· Discuss importance of maintaining C-spine in neutral position
· Influenza vaccine + routine vaccines
· Monitor growth (use regular growth charts) and development

80
Q

PKU inheritance

A

Autosomal recessive

81
Q

IEM - resp alkalosis``

A

Urea cycle defect

82
Q

IEM - Met acidosis big gap

A

Organic academia

83
Q

IEM - Hyperchloremic acidosis

A

FAOD

hypoketotic hypoglycaemia

84
Q

WAGR

A

= Wilms tumor, aniridia, genitourinary anomalies, mental retardation

85
Q

MELAS

A

Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes

Miochondrial
Maternal inheritance

86
Q

White forlock

A

Waardenburg syndrome (dystopia canthorum (Wide eyes), congenital hearing loss, heterochromic irises, white forelock)

87
Q

Klinefelter Syndrome

A

XXY

infancy: hypospadias, small phallus or cryptorchidism

toddler: boys with developmental delay, esp expressive language skills
school-aged may have language delay, learning disability, behavioural problems

older/adolescent: incomplete pubertal development with eunuchoid body habitus, gynecomastia and small testes
hypogonadism

labs: increased FSH/LH, low testosterone, non-motile sperm

88
Q

Recurrence risk for T21 if maternal age not high

A

<1%

89
Q

What is chance that unaffected parents of a child with a cleft will have another child with a cleft

A

2% to 6%:

90
Q

PHACE syndrome

A 
Posterior fossae abnormalities (dandy walker malformation) 
Hemangioma (large facial IH >5cm) 
Arterial/Aortic anomalies 
Cardiac Anomalies 
Eye Abnormalities
91
Q

Russell Silver Syndrome

A

SGA w relative macrocephaly

triangular facies

92
Q

Peutz–Jeghers syndrome

A

benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis).

increased risk of GI and extraintestinal malignancie

93
Q

Rectal Prolapse DDx

A

malnutrition, diarrhea, ulcerative colitis, pertussis, Ehlers-Danlos syndrome, meningocele (more often associated with procidentia owing to the lack of perineal muscle support), cystic fibrosis, and chronic constipation.

94
Q

Genetic syndromes that predispose to development of leukemia

A 
T21
Noonan
NF1
Bloom
Ataxia Telangiectasia
Fanconi anemia
Li-Fraumeni syndrome
Shwachman-Diamond Syndrome
95
Q

Sturge Weber Syndrome

A 
Port wine stain in V1
leptomeningeal angioma
Seizures
Stroke like episodes
Hemiparesis
Hemianopsia
Headahces
Developmental disabilities
Glaucoma
Buphthalmos
intellectual disability or severe learning disabilities
96
Q

DDH
RF
Dx
Tx

A

Female
Breech
Fix

Dynamic U/S

Pavlik harness

97
Q

Complications of IDM

A 
hypoglycemia
macrosomia
prematurity
RDS
hypertrophic cardiomyopathy
caudal regression syndrome
polycythemia
98
Q

Neonatal conjugated hyperbilirubinemia

A 
– Extrahepatic obstructive
• Biliary atresia, choledochal cysts
– Bacterial infection/sepsis
– TORCH
– Neonatal hepatitis
• viral, bacterial, parasitic,
idiopathic 
– Metabolic:
• alpha-1 antitrypsin, IEM, endocrinopathies, CF, Iron storage disease, bile acid synthesis defects
– Cholecystasis syndromes 
• Dubin Johnson, Byler
– Toxic: hyperalimentation
99
Q

Neonatal unconjugated hyperbilirubinemia

A 
– Dehydration
– ‘Breastmilk’ 
– Cephalohematoma
– hypothyroidism 
– Infection
– Polycythemia 
– Hemolysis
-Intrinsic:
---Cell membrane (sphere.)
---Enzyme (G6PD)
---Hb-opathies (thal)
-Extrinsic
---Immune (HDN)
---Nonimmune (MAHA)
– Endocrinopathies
– Extravascular blood
 – Geneticdisorders
– Increased enterohepatic circulation (GI obstruction, delayed meconium)
100
Q

CDH - mgmt

A

intubate

101
Q

NRP
Compression:Breath ratio
supplemental O2 to start?

when to stop resuscitations

A

3:1

21% >35wga
21-30% <35wga

10 min of effective resuscitations w no HR

102
Q

What do they do:
Antenatal Steroids
Antenatal MgSO4

A

Antenatal Steroids: lung development

Antenatal MgSO4: decrease risk of IVH, CP
neuroprotection

103
Q

How to test for galactosemia

A

GALT levels

urine reducing substances

104
Q

Advantages of DCC

A

Preterm: decreased transfusion
NEC
IVH

105
Q

Neonatal lupus - 4 features

- 2 labs

A

heart block
discoid rash
transaminitis
heme - anemia, thrombocytopenia

anti Ro and La

106
Q

IVH - grades

A

1: germinal matrix/subependymal
2: into ventricles, not enlarged
3: ventricles enlarged
4: bleeding into brain tissue around ventricles (venous infarction)

107
Q

how to prevent IVH

A

antenatal steroids and DCC

108
Q

PVL

A

spastic diplegia CP

109
Q

newborn - ET tube sizes

A

> 35wga: 3.5-4
1kg: 3.0
<1kg: 2.5

110
Q

Marfan - inheritance

A

AD 75%

sporadic 25%

111
Q

Marfans - inheritance

  • cardiac issues
  • other issues
A

Autosomal dominant

MVP
Aortic aneurysm/dissection

Ectopia lentos

112
Q

TS - inheritance

A

AD

2/3 have de novo

113
Q

Duchenne Muscular Dystrophy

- what on bx

A

Bx:
•absence of staining for dystrophin
•atrophy and hypertrophy of muscle fibers
•degeneration and regeneration (foci of necrosis and regeneration)
•deposition of fat and connective tissue

114
Q

Baby with non ketotic hypoglycemia - possible causes

A

Hyperinsulinism

FAOD

115
Q

Inheritance of hemophilia

A

X linked

116
Q

most common presentation of IEM

A

encephalopathy preceding focal neuro deficit

117
Q

Achondroplasia - on investigation at birth

A

head MRI

118
Q

Ways to reduce risk of SIDS

A

back to sleep for every sleep
eliminate tobacco/ smoke exposure
infant sleeps in crib/ bassinet that meets regulation in a single sleeper (use a lightweight blanket)
Room share with parents until 6 months old
Breast feeding decreases SIDS (by 50% at 6mos)
Pacifier use is encouraged

119
Q 
Surfactant therapy does what:
mortality
morbidity
Air leaks
Duration of vent support
BPD
A

Reduces mortality
Reduces morbidity
Improves oxygenation
Decreases air leaks (pneumothorax, pulmonary interstitial emphysema)
Decreases the duration of ventilator support
Increases survival without BPD
Shorter hospital stays

120
Q

Causes of oligohydramnios

A 
Fetal UT problems
- Renal anomalies
- GU obstruction
Uteroplacental insufficiency
ROM
121
Q

Causes of polyhydramnios

A 
Maternal DM
Multiple gestations
Isoimmunization
Pulmonary abnormalities
Fetal anomalies
- Duodenal atresia/TE fistula
- Anencephaly
Twin Twin transfusion
122
Q

Gastroschisis
what is it
associations

A

full-thickness abdominal wall defect usually located to the right of the umbilicus beside normally inserted umbilical vessels
(No membrane or sac covers the herniated abdominal contents)

Often isolated
Can have atresia or necrosis

123
Q

Omphalocele

A

Congenital midline abdominal wall defect in which neonates are born with variable amount of intestine and often other organs (eg, liver) herniated outside the abdominal wall

Covered by a membrane, unless it has ruptured in utero

often present with other associated major physical and/or chromosomal abnormalities eg.Beckwith-Wiedemann syndrome.

124
Q

Most common reason for delayed respiratory effort in a newborn

A

maternal opiods in labour

125
Q

Vitamin D in inuit, how much vitamin D do you give her

A

800 IU

126
Q

ELBW infant. What causes CLD?

A

Barotrauma

127
Q

When can most CP be diagnoses? (What age)

A

2y

128
Q

Whats a normal GIR for baby with hypoglycemia

A

5-8mg/kg/min

129
Q

How to treat staph infection

A

cloxicillin

130
Q

6 Steps in Mgmt for NEC

A 
NPO
AXR
NG insertion 
IV Fluids
Triple antibiotics (Amp + Gent/Tobra + Flagyl)
Surgical consultation
131
Q

HIE:

Moderary/Severe encephalopathy

A
  1. LOC
    Lethargic/Stupor
  2. Spontaneous activity
    Decreased/none
  3. Posture
    Distal flexion/Decerebrate
  4. Tone
    Hypotonia/Flaccid
  5. Primitive Reflexes
    Weak suck + incomplete moror/
    Absent
  6. Autonomic system
    Constricted pupils + Bradycardia + Periodic breathing
    /
    Skew deviation/dilated/ nonreactive to light
    Variable HR
    Apnea
132
Q

Term newborns - who gets iron supplementation

A

If term, LBW and breastfeeding:
<2kg: 2-3mg/kg/day for 1 year
2-2.5kg: 1-2mg/kg/day for 6 months

If normal weight, none
If formula feeding, none

133
Q

How does MAS cause resp problems

A

Proximal and distal airway obstruction
Inflammatory and chemical pneumonitis
Decreased surfactant production and inactivation
Remodelling of pulmonary vasculature → persistent pulmonary hypertension

134
Q

High GIR requirements

A 
hyperinsulinism
Beckwith Wiedemann
Soto syndrome
IDM
Persistent hyperinsulinemic hypoglycemia of infancy
135
Q

Normal GIR requirements

A

premature (glycogen is deposited during third trimester)
IUGR

cortisol or GH deficiency
IEMs

136
Q

How do you clinically determine the gestational age of a premature baby?

A

Ballad Scores

137
Q

Drugs that cause increased risk of NTD

A

trimethoprim and the anticonvulsants carbamazepine, phenytoin, phenobarbital, and primidone

138
Q

Phrenic Nerve paralysis

do you need to refer

A

may need resp support but try to avoid mechanical ventilation if possible

usually spontaneous recover in 1-2 months

139
Q

Powdered formulat in preterm infants - what bug

A

Cronobacter sakazakii (previously Enterobacter sakazakii)

140
Q

zinc deficiency

A

Acrodermatitis enteropathica

classic triad = acrodermatitis, diarrhea, and alopecia

141
Q

Twin twin transfusion

- complications for donor

A 
Hypovolemia
Anemia
Hypoxia
IUGR
Decreased renal blood flow
Oligohydramnios
142
Q

Twin twin transfusion

- complications of recipient

A 
Hypervolemia
Polyhydramnios
Polycythemia
Embolization
Hypertension
Cardiac failure
143
Q

Concerning sacral dimple?

A

(1) deep
(2) larger than 0.5 cm;
(3) located within the superior portion of the gluteal crease or above (greater than 2.5 cm from the anal verge); or
(4) associated with other cutaneous markers

*Review TD 2020 (16 decks)

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