Term
Downs Syndrome
different causes on the chromosomal level what are they? |
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Definition
1 in 650
94% non disjunction
5% translocation
1% mosaicism |
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Term
translocational Down's syndrome
what are the risks to the offspring?
is parental chromosomal analysis needed? |
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Definition
when extra Ch21 joined to Ch14.
parental chromosomal analysis is needed. this is not needed in non disjunction cases.
10-15% of reoccurrence is mum is translocation carrier
2.5% if father is carrier
if parent carries the rare 21:21 translocation all offspring will have Down's
if neither parent carries a translocation then <1% of reoccurrence |
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Term
| which chromosomal translocation results in all offspring having Downs syndrome? |
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Definition
| 21:21 robertsonian translocation |
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Term
| clinical features of edwards syndrome? |
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Definition
low birthweight
small mouth and chin
overlapping fingers
rocker bottom feet
cardiac and renal malformations |
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Term
| clinical features of Patau |
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Definition
structural brain defects
scalp defects
small eyes
cleft lip and palate
polydactyly
cardiac and renal malformations |
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Term
what syndrome is 22q11?
what is 7q11 |
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Definition
22q11 is Digeorge
7q11 is Wiiliams |
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Term
| examples of AD conditions |
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Definition
achondroplasia
EDS
Marfans
HD
neurofibromatosis
Osteogenesis imperfecta
Tuberous sclerosis
polyposis coli
noonans
myotonic dystrophy
familial hypercholesteremia
otosclerosis |
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Term
| name an x linked dominant inherited disorder? are males, females or both affected? |
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Definition
| both males and females are affected in x linked dominant disorders e.g. Vit D resistant rickets |
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Term
| what inheritance pattern does incontinentia pigment have? |
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Definition
x linked dominant.
male lethality is expected so you will only see women who are alive with this condition. |
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Term
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Definition
CF
congenital adrenal hyperplasia
Friedrich ataxia
galactosemia
glycogen storage disorders
PKU
Sickle cell
Tay sachs
Thallasemia
Werdnigg hoffman disease |
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Term
| x-linked recessive disorders |
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Definition
colour blindness red-tree
Duchenne and Beckers
Fragile X
G6PD
Hemophilia A and B
hunter syndrome (mucopolysacharidosis II) |
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Term
fragile X inheritence
mutation
which gene? |
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Definition
X linked recessive
CGG trinucleotide repreat
gene: FMR1 |
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Term
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Definition
macrocephaly
macroorchidism
long face
large everted ears
prominent mandible
Mitral valve prolapse
joint laxity
scoliosis autism hyperactivity
moderate-severe learning difficulty |
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Term
| what does VACTERL association stand for? |
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Definition
vertrebal anomalies
anal atresia
cardiac defects
tracheooEsophageal fistula
renal anomalies
limb defects |
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Term
| how are syndromes recognised? |
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Definition
| Gestalt clinical recognition |
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Term
| define perinatal mortality rate |
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Definition
stillbirths and death within the 1st week per 1000 live births and still births
stillbirths: fetus born with no signs of life >24weeks gestation |
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Term
| define neonatal mortality rate |
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Definition
| deaths of live born infants within the 1st 4 weeks after birth per 1000 live births |
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Term
what is low birth weight?
very low birth weight? |
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Definition
Low birthweight <2500g
very low <1500g
extremely low <1000g |
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Term
| define small for gestation and large for gestation |
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Definition
small <10th centime
large >90th centile |
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Term
| if a women is planning to get pregnant but is on retinoids, warfarin and sodium valproate what must happen before she gets pregnant? |
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Definition
| she needs to stop these meds and be put on alternatives because they are teratogenic |
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Term
| what side effects of prematurity can steroids given to the mother help reduce? |
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Definition
reduce RDS
reduce intraventricular haemorrhage
reduce neonatal mortality |
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Term
| if the fetes has SVT what can be given to the mother to rx this? |
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Definition
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Term
| what would you think if you saw free loops of small bowel in amniotic fluid during an USS? |
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Definition
| you would think gastroschisis |
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Term
| what is an abnormal lemon shaped skull together with an abnormal appearance of the cerebellum suggestive of? |
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Definition
| Arnold-Chiari malformation. associated with spina bifida |
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Term
| what happens to the insulin requirement in a diabetic pregnancy? |
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Definition
| insulin requirements increase |
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Term
| what malformations are infants born to diabetic mothers at particular risk for? |
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Definition
cardiac malformations
sacral agenesis
hypoplastic left colon |
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Term
| baby diagnosed with neonatal lupus syndrome. she has a self limiting rash and heart block. which 2 antibodies would we expect baby to be positive for? |
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Definition
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Term
treatment for autoimmune thrombocytopenic purport in the infant?
what are the complications? |
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Definition
Rx: iv immunoglobins if they have severe thrombocytopenia and petichiae
complications: increase risk of intracranial haemorrhage following birth trauma |
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Term
| what was diethylstilbestrol used for? what was a consequence of its use? |
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Definition
used for threaten miscarriage
subsequently associated with clear cell adenocarcinoma of the vagina and cervix in female offspring. |
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Term
| characteristic facies of feral alcohol syndrome? |
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Definition
saddle shaped nose
maxillary hypoplasia
absent philtrum
thin upper lip |
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Term
| what is phocomelia? which drug was this a consequence of in a lot of infants? |
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Definition
limb shortening
consequence of mothers taking thalidomide for morning sickness during pregnancy. |
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Term
| teratogenic effects of warfarin |
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Definition
interferes with cartilage formation (nasal hypoplasia and epiphyseal stippling)
cerebral hemorrhages and microcephaly |
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Term
rubella
infection before how many weeks causes deafness, congenital heart disease and cataracts in 80%? |
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Definition
before 8 weeks
beyond 18 weeks the risk to fetes is minimal |
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Term
| what is the most common congenital infection in the UK? |
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Definition
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Term
what is the rx for toxoplasma gondii in infected babies
how long are they treated for? |
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Definition
Pyrimethamine and sulfadiazine
treated for 1 year |
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Term
| what can asymptomatic toxoplasma gondii infected infants develop in adulthood? |
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Definition
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Term
| when is a fetes at highest risk of getting varicella zoster infection? |
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Definition
| if the pregnant mother develops chickenpox shortly before or after delivery. |
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Term
| what does the APGAR score consist of? |
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Definition
heart rate
resp effort
muscle tone
reflex irritability
colour |
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Term
| what does DOPE stand for in an intubated baby who is failing to increase their heart rate? |
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Definition
Displaced tube: in gullet or right main bronchus
Obstruction: from meconium
Patient: congenital malformations, pneumothorax, hypoplasia, asphyxia
Equipment failure: gas supply exhausted or disconnected. |
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Term
| in neonatal resus when should you start chest compressions? |
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Definition
when HR is <60bpm
the ratio is 3:1 compression to lung inflation
if after compression and adequate ventilation still <60 bpm give adrenaline IV 0.1ml of 1:10 000 |
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Term
| preterm infants are particularly liable to hypothermia. in pre terms <30weeks what should we put them in? |
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Definition
put them in a plastic bag to keep warm.
also when giving oxygen make sure to titrate the o2 according to their o2 sats as too much oxygen can cause tissue damage to brain lungs and eyes from oxygen free radicals |
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Term
what kind of growth restriction pattern would you see in utero placental dysfunction?
what happens to these infants after birth? |
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Definition
asymmetrical growth restriction with head sparing. the placenta fails to provide adequate nutrition late in pregnancy but brain growth is relatively spared at the expense of liver glycogen and skin fat,
this type of placental dysfunction can be secondary to pre eclampsia, multiple pregnancy, maternal smoking or can be idiopathic.
these infants rapidly put on weight after birth |
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Term
| what does symmetrical growth restriction suggest? |
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Definition
prolonged period of poor growth starting in early pregnancy
incorrect dates
these infants are more likely to remain small permanently
due to small but normal fetes, maternal disease, drug use, alcohol use, chromosomal abnormalities, chronic medical condition or map nutrition |
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Term
| what is the common rash that appears 2-3 days after birth. it has a white pin point papule at the centre of an erythematous base. the fluid contains eosinophils? |
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Definition
| Neonatal urticaria AKA erythema toxicum |
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Term
| what are port wine stains? |
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Definition
neavus flammeus - present from birth and grows with infant.
sturge-weber syndrome: port wine stain along trigeminal nervier distribution
Klippel trenauny syndrome: severe lesions on limb with bone hypertrophy |
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Term
strawberry nevus features
risks
mx |
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Definition
AKA cavernous haemangioma
not present at birth
appears in 1st month of life
more common in preterm
increases in size until 3-15 months then gradually regresses
no rx indicated unless severe
can interfere with vision or airway. if so rx with systemic steroids or interferon-a
ulceration, haemorrhage or thrombocytopenia may occur with large lesions |
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Term
| the normal vitamin K injection is given IM. some mums want it to be given PO to their child. what must happen to the dose if we give it PO? |
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Definition
| we need to give 3 doses over the 1st 4 weeks because oral absorption is variable. |
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Term
| if a mother is on anticonvulsant therapy when should she receive Vitamin K prophylaxis? |
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Definition
Vit K prophylaxis Orally from 36 weeks gestation
also baby should be given IM vitamin K after birth |
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Term
| how is screening for CF performed in the Gutherie test? |
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Definition
tests fro serum immunoreactive trypsin.
this is raised if there is pancreatic duct obstruction.
if raised, DNA analysis also performed to reduce false positive rates. |
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Term
| what test is used to check hearing in the newborn? |
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Definition
Evoke otoacoustic emission testing EOAE
earphone placed over the ear and sound emitted. this evokes an echo or emission from the ear if the cochlear function is normal. |
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Term
| what happens when the initial EOAE hearing test is abnormal? |
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Definition
test with automated auditory brainstem response (AABR) audiometry.
this uses computer analysis of EEG waveforms evoked in response to a series of clicks. if this is abnormal then refer to paediatric audiologist. |
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Term
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Definition
failure of gas exchange across placenta: prolonged uterine contractions, placental abruption, ruptured uterus
interruption of umbilical blood flow: cord compression/prolapse
inadequate maternal placental perfusion
compromised fetus
failure of cardiorespiratory adaptation at birth |
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Term
| features of mild, moderate and severe HIE |
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Definition
mild: irritable, responds excessively to stimulation, staring eyes, hyperventilation, impaired feeding
moderate: tone and movement abnormalities, cannot feed and may have seizures
severe: no normal spontaneous movements/response to pain.
limb tone may fluctuate between hypo and hypertonia. prolonged seizures that are often refractory to rx
multi organ failure is present. |
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Term
| how can the neuronal damage in HIE manifest? |
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Definition
| it can immediate from the primary neuronal death or may be delayed from repercussion injury. |
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Term
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Definition
infants with HIE may need:-
respiratory support
record amplitude integrated EEG to detect abnormal background activity
treat seizures with anticonvulsants
fluid restriction because of transient renal impairment
rx of hypotension by volume and inotropic support
monitoring and rx hypoglycemia and electrolyte imbalances especially hypocalcemia.
cooling the infant within 6 hours of birth and causing mild hypothermia can reduce brain damage. 33-34 degrees for 72 hours. |
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Term
| an infant who suffered HIE has an MRI brain scan at 10 days. what signs on the scan would suggest a high chance of cerebral palsy development in the infant? |
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Definition
bilateral abnormalities in basal ganglia and thalamus
lack of myelin in posterior limb of internal capsule |
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Term
| describe capput succedaneum, cephalhematoma and chignon |
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Definition
caput succedaneum: bruising/oedema of presenting part that crosses suture lines and resolves over a few days
cephalhematoma: bleeding below periosteum confined within suture lines.hematoma has a soft centre. resolves over couple weeks
chignon: oedema/bruising caused by ventouse |
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Term
| on examination of a new born there is a diffuse boggy swelling of scalp. what could this be? |
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Definition
| a subaponeurotic hemorrhage |
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Term
respiratory distress syndrome AKA hyaline membrane disease
due to a deficiency is what?
what is given to mother antenatally if baby premature?
RDS more common in infants < how many weeks?
more common in boys or girls?
which pneumocytes secrete surfactant? |
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Definition
surfactant deficiency
mother given steroids
more common in those born < 28 weeks
more common in boys
type II pneumocytes secrete surfactant |
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Term
| signs of RDS they develop at delivery or within 4 hours of birth |
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Definition
tachypnoea >60 breaths/min
laboured breathing: chest wall recession, nasal flaring
expiratory grunting: to create positive airway pressure and maintain residual volume
cyanosis if severe
apnoea |
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Term
|
Definition
clear airway
high flow humidified o2 therapy
CPAP
mechanical ventilation |
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Term
| when does sucking and swallowing develop in the fetes? |
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Definition
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Term
| what does CXR in RDS show? |
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Definition
diffuse granular or ground glass appearance of the lungs
heart border becomes indistinct or obscured completely with severe disease. |
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Term
| what complication occurs in 10% of infants that are ventilated for RDS? |
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Definition
PNEUMOTHORAX
breath sounds and chest movement on affected side are reduced |
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Term
| in which area of the brain do pre term haemorrhages usually occur? |
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Definition
in the germinal matrix above the caudate nucleus. there is a network of blood vessels there. if the bleed is confined to this area then the risk of cerebral palsy is not increased
most haemorrhages occur within the 1st 72 hours of life. |
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Term
if bilateral multiple cysts called periventricular leukomalacia are present what is the risk of cerebral palsy?
is there a specific type this predisposes to? |
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Definition
80-90% risk of cerebral palsy
spastic diplegia |
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Term
if you see dilated lateral ventricles in a cranial ultrasound of a preterm what would you think?
what if you saw widespread cysts around the lateral ventricles of the brain?? |
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Definition
dilated ventricles may be due to intra ventricular haemorrhage
multiple bilateral cysts suggest periventricular leukomalacia |
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Term
| features of necrotising enterocolitis |
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Definition
affects preterm babies in 1st few weeks of life
affects those who are fed cows milk rather than breast milk only
due to bacterial invasion of ischemic bowel wall.
infant doesnt tolerate feeds, distended abdomen with tense shiny skin over abdomen, blood in stools and bile stained vomit
can lead to bowel perf.
xr: distended loops of bowel, thickened bowel walls and intramural gas.
Rx: stop oral feeds, broad spec Abx
complications: strictures and malabsorbtion in the future |
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Term
| define bronchopulmonary dysplasia |
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Definition
infants who still have an oxygen requirement at a post gestational age of 36 weeks.
also called chronic lung disease.
cxr: widespread areas of opacification sometimes with cystic changes. |
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Term
| what is palivizumab? when is it given? |
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Definition
Monoclonal antibody against RSV
given to preterm infants with bronchiolitis to reduce the need for hospitalisation |
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Term
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Definition
due to unconjugated br crossing BBB depositing in basal ganglia and brainstem nuclei
there is lethargy, poor feeding, increased muscle tone, seizures and coma.
those who survive may develop choreathethoid cerebral palsy due to damage in basal ganglia, sensorineural deafness and learning difficulties. |
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Term
| what is deficient or absent in Criggler-Najjar syndrome? |
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Definition
| the enzyme glucuronyl transferase. this is the enzyme that conjugates the billirubin |
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Term
| how long must you have jaundice for before it is classed as prolonged neonatal jaundice? |
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Definition
| > 2 weeks or 3 weeks if preterm |
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Term
| causes of prolonged jaundice? |
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Definition
breast milk jaundice
infection esp UTI
congenital hypothyroidism |
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Term
| stap epidermis is a coagulase negative staphyloccocus. which Abx can be used for this? |
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Definition
| Vancomycin: it is used for coagulase negative staphy or enterococci |
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Term
| what does prolonged use of broad spec Abx in premature infants predispose them to? |
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Definition
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