Newborn/NICU + Gene + Met Flashcards
Trisomy 18
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)
Trisomy 13
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
Antenatal steroid
- when
- why
<34 weeks
lung development
IVH
NEC
mortality
Antenatal magnesium sulphate
<32 weeks
neuroprotection (cerebralpalsy)
Associations:
A. Maternal Graves disease B. Maternal diabetes mellitus C. Maternal hyperparathyroidism D. Maternal SLE E. Maternal vitamin D deficiency
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
William Syndrome
Elfin facies
irritability
supra-valvular aortic stenosis
Russell Silver Syndrome
IUGR, triangular-shaped face, clinodactyly
Noonan Syndrome
(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
Congenital Myotonia
Weakness, club feet, tented mouth, inadequate respirations
Uncontrolled gestation DM - associations
RDS
Hypoglycemia
LGA
Risk fo preterm delivery
• 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
Risk of IUGR
• 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
IUGR – oligohydramnios or polyhydramnios?
Oligo
Vit K Prophylaxis
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
Vit K deficiency bleeding
- types
- tx
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
What type of vit K def bleeding is due to no prohphylaxis
Classic - 1st week
What are the shunts in fetal circulation
1. Ductus Venosus UV -> IVC 2. Foramen Ovale RA -> LA 3. Ductus Arteriosus PA -> Ao
Advantages of Breastfeeding
prevent SIDS,
enhance cognitive development, social,
immune / allergy / infection (IgA, WBC, bifidus factor)
CCHD screening - where are the sat probes
right hand
either foot
Who meets criteria for therapeutic cooling
<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
- Hx of acute perinatal event (ex: cord prolapse, plac abruption or uterine rupture) AND
- 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
Side effects of cooling
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
Temp for whole body cooling?
rectal temp of 33.5°C ± 0.5°C
How long to cool for and how fast to rewarm
Cool 72 hours then rewarm 0.5°C q1-2h
Outcomes of HIE
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