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
Survival rates for <22wga to 26wga
``` Survival <22wga: extremely rare 22+0-6: 18% 23+0-6: 41% 24+0-6: 67% 25+0-6: 79% ```
26
What gestational age do we use plastic bags
<32wga
27
Pierre Robin Sequence
micrognathia glossoptosis airway obstruction often assoc w Cleft palate (don’t need to have)
28
Risk factors for RDS
Prematurity IDM Asphyxia
29
Surfactant therapy - benefits
``` Decreases: mortalitiy pneumothorax PIE duration of vent suport LOS Hospital costs ``` (No effect on IVH, BPD, NEC, ROP)
30
How to fix oxygenation on a vent
FiO2 | PEEP
31
How to fix CO2 on a vent
PIP and RR
32
BPD definition
Oxygen dependence beyond 28 days or at 36 weeks post- gestational age
33
LBW VLBW ELBW
LBW < 2500g VLBW < 1500g ELBW <1000g
34
Complications of prematurity
``` – 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) ```
35
Apnea definition
cessation of breathing 20 seconds or 10-20s with bradycardia (<80)
36
ROP screening
GA < 30 6/7 weeks OR Birth weight < 1250 g | At 4 weeks of age (>26+6) After 31 weeks for (<26+6)
37
Xray features of NEC
pneumatosis intestinal porta venous distension pneumoperitoneum
38
Long term complications of NEC
Short gut (surgical), stenosis/obstruction, recurrence
39
Sarnat Scoring
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
40
Therapeutic cooling hypothermia criteria
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
41
When to initiate therapeutic cooling | Temp goal
within 6 hours 33-34 deg C
42
When to image and what to look for
After rewarming at day 3-5 Can repeat 10-14 days • Basal ganglia / thalamus / PLIC = motor + cognitive • Watershed areas = more cognitive than motor
43
Erb's Palsy - when to refer
C5, 6, 7 possibly phrenic - resp depression refer at 1 month
44
Klumpke
C8-T1
45
Horner - char - tx
C5-T1 ptosis meiosis observe q1month refer to surf If present at 3mo
46
Hyperinsulinism - who at risk
IDM BWS SGA
47
Urea cycle defect: | Organic acidemias:
Urea cycle defect: normal gas – high ammonia Organic acidemias: acidotic +/- high ammonia
48
normal gas – high ammonia | acidotic +/- high ammonia
Urea cycle defect: normal gas – high ammonia | Organic acidemias: acidotic +/- high ammonia
49
Neonatal unconjugated jaundice
``` – Dehydration – ‘Breastmilk’ – Infection – Polycythemia – Hemolysis – Endocrinopathies – Extravascular blood – Geneticdisorders – Increased enterohepatic circulation (GI obstruction, delayed meconium) ```
50
Neonatal conjugated jaundice
``` – 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 ```
51
Red Flags for hyperbilirubinemia Workup
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 ```
52
Cutoffs for severe and critical hyperbili
Severe: TSB > 340 umol/L in 1st 28d | • Critical: TSB > 425 umol/L in 1st 28d
53
Kleihauer test - what does it do
Checks mom's blood for fetal hb
54
Causes of thrombocytopenia in newborn
– 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
55
TEF - polyhydramnios or oligohydramnios?
poly
56
Causes of symmetrical IUGR
Infection chromosomal, genetic, malformation, teratogenic, infectious, or severe maternal hypertensive etiologies.
57
Causes of asymmetrical IUGR
Poor maternal nutrition | Late onset or exacerbation of maternal vascular disease (preeclampsia, chronic hypertension).
58
Most common cause of hypertension int he newborn
Renovascular
59
CXR - RDS
Ground glass opacities/Diffuse Reticulogranular pattern Air bronchograms Low lung volumes
60
Polycythemia - who is at risk
``` SGA Post term IDM Twin to twin transfusions T21, T18, T13 Placental insufficiency - pre eclampsia, maternal hypertension ```
61
Definition of polycythemia | When to treat
Hct > 0.65 Treat if >0.70 and symptomatic >0.75 and asymptomatic
62
PPHN tx
(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
When does PVL occur
24-32 weeks gestation
64
Conditions associated w choanal atresia/stenosis
``` CHARGE Apert Crouzon Velocardiofacial Treacher Collins T18 ```
65
Sacral agencies associated with?
IDM
66
22q11 deletion syndrome characteristics how to dx
§Cleft palate §Thymic hypoplasia §Cardiac defects- conotruncal (TOF, IAA, VSD, TA) §Hypoparathyroidism FISH
67
William syndrome | characteristics
* 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
X linked inheritance who can pass to who
Female to male | no male to Male
69
Fragile X - genetics - gene characteristics - what type of cardiac
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
Prader Willi Syndrome
Initial failure-to-thrive Severe hypotonia Cryptorchidism Hyperphagia
71
Beckwith Weidemann Syndrome Triad Monitor
Triad of: E – exomphalos M - macroglossia G – gigantism hemihypertrophy macrosomia Monitor: AFP- hepatoblastoma US – Wilms tumour Renal ultrasounds - nephrocalcinosis
72
Bloodwork for presentation of IEM
Plasma Amino acids Plasma Acylcarnitine Urine Organic acids
73
Ectopia lentis
Homocystinuria | - check AA
74
Rett Syndrome (5 char)
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
Fetal alcohol syndrome - characteristics - cardiac?
``` 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
Turner syndrome Characteristics
- 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
Hydantoin syndrom
Hypoplastic nails/fingers | carb or pheny
78
First month screening in T21
· CBC, diff smear · TSH, T4 · Echocardiogram · Universal newborn hearing screen
79
T21 1m-1y screening
· 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
PKU inheritance
Autosomal recessive
81
IEM - resp alkalosis``
Urea cycle defect
82
IEM - Met acidosis big gap
Organic academia
83
IEM - Hyperchloremic acidosis
FAOD hypoketotic hypoglycaemia
84
WAGR
= Wilms tumor, aniridia, genitourinary anomalies, mental retardation
85
MELAS
Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes Miochondrial Maternal inheritance
86
White forlock
Waardenburg syndrome (dystopia canthorum (Wide eyes), congenital hearing loss, heterochromic irises, white forelock)
87
Klinefelter Syndrome
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
Recurrence risk for T21 if maternal age not high
<1%
89
What is chance that unaffected parents of a child with a cleft will have another child with a cleft
2% to 6%:
90
PHACE syndrome
``` Posterior fossae abnormalities (dandy walker malformation) Hemangioma (large facial IH >5cm) Arterial/Aortic anomalies Cardiac Anomalies Eye Abnormalities ```
91
Russell Silver Syndrome
SGA w relative macrocephaly | triangular facies
92
Peutz–Jeghers syndrome
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
Rectal Prolapse DDx
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
Genetic syndromes that predispose to development of leukemia
``` T21 Noonan NF1 Bloom Ataxia Telangiectasia Fanconi anemia Li-Fraumeni syndrome Shwachman-Diamond Syndrome ```
95
Sturge Weber Syndrome
``` 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
DDH RF Dx Tx
Female Breech Fix Dynamic U/S Pavlik harness
97
Complications of IDM
``` hypoglycemia macrosomia prematurity RDS hypertrophic cardiomyopathy caudal regression syndrome polycythemia ```
98
Neonatal conjugated hyperbilirubinemia
``` – 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
Neonatal unconjugated hyperbilirubinemia
``` – 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
CDH - mgmt
intubate
101
NRP Compression:Breath ratio supplemental O2 to start? when to stop resuscitations
3:1 21% >35wga 21-30% <35wga 10 min of effective resuscitations w no HR
102
What do they do: Antenatal Steroids Antenatal MgSO4
Antenatal Steroids: lung development | Antenatal MgSO4: decrease risk of IVH, CP neuroprotection
103
How to test for galactosemia
GALT levels | urine reducing substances
104
Advantages of DCC
Preterm: decreased transfusion NEC IVH
105
Neonatal lupus - 4 features | - 2 labs
heart block discoid rash transaminitis heme - anemia, thrombocytopenia anti Ro and La
106
IVH - grades
1: germinal matrix/subependymal 2: into ventricles, not enlarged 3: ventricles enlarged 4: bleeding into brain tissue around ventricles (venous infarction)
107
how to prevent IVH
antenatal steroids and DCC
108
PVL
spastic diplegia CP
109
newborn - ET tube sizes
>35wga: 3.5-4 >1kg: 3.0 <1kg: 2.5
110
Marfan - inheritance
AD 75% | sporadic 25%
111
Marfans - inheritance - cardiac issues - other issues
Autosomal dominant MVP Aortic aneurysm/dissection Ectopia lentos
112
TS - inheritance
AD | 2/3 have de novo
113
Duchenne Muscular Dystrophy | - what on bx
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
Baby with non ketotic hypoglycemia - possible causes
Hyperinsulinism | FAOD
115
Inheritance of hemophilia
X linked
116
most common presentation of IEM
encephalopathy preceding focal neuro deficit
117
Achondroplasia - on investigation at birth
head MRI
118
Ways to reduce risk of SIDS
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
``` Surfactant therapy does what: mortality morbidity Air leaks Duration of vent support BPD ```
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
Causes of oligohydramnios
``` Fetal UT problems - Renal anomalies - GU obstruction Uteroplacental insufficiency ROM ```
121
Causes of polyhydramnios
``` Maternal DM Multiple gestations Isoimmunization Pulmonary abnormalities Fetal anomalies - Duodenal atresia/TE fistula - Anencephaly Twin Twin transfusion ```
122
Gastroschisis what is it associations
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
Omphalocele
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
Most common reason for delayed respiratory effort in a newborn
maternal opiods in labour
125
Vitamin D in inuit, how much vitamin D do you give her
800 IU
126
ELBW infant. What causes CLD?
Barotrauma
127
When can most CP be diagnoses? (What age)
2y
128
Whats a normal GIR for baby with hypoglycemia
5-8mg/kg/min
129
How to treat staph infection
cloxicillin
130
6 Steps in Mgmt for NEC
``` NPO AXR NG insertion IV Fluids Triple antibiotics (Amp + Gent/Tobra + Flagyl) Surgical consultation ```
131
HIE: | Moderary/Severe encephalopathy
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
Term newborns - who gets iron supplementation
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
How does MAS cause resp problems
Proximal and distal airway obstruction Inflammatory and chemical pneumonitis Decreased surfactant production and inactivation Remodelling of pulmonary vasculature → persistent pulmonary hypertension
134
High GIR requirements
``` hyperinsulinism Beckwith Wiedemann Soto syndrome IDM Persistent hyperinsulinemic hypoglycemia of infancy ```
135
Normal GIR requirements
premature (glycogen is deposited during third trimester) IUGR cortisol or GH deficiency IEMs
136
How do you clinically determine the gestational age of a premature baby?
Ballad Scores
137
Drugs that cause increased risk of NTD
trimethoprim and the anticonvulsants carbamazepine, phenytoin, phenobarbital, and primidone
138
Phrenic Nerve paralysis do you need to refer
may need resp support but try to avoid mechanical ventilation if possible usually spontaneous recover in 1-2 months
139
Powdered formulat in preterm infants - what bug
Cronobacter sakazakii (previously Enterobacter sakazakii)
140
zinc deficiency
Acrodermatitis enteropathica classic triad = acrodermatitis, diarrhea, and alopecia
141
Twin twin transfusion | - complications for donor
``` Hypovolemia Anemia Hypoxia IUGR Decreased renal blood flow Oligohydramnios ```
142
Twin twin transfusion | - complications of recipient
``` Hypervolemia Polyhydramnios Polycythemia Embolization Hypertension Cardiac failure ```
143
Concerning sacral dimple?
(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