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Peads Genetics and prematurity
.
76
Medical
Undergraduate 4
04/08/2017

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Term
Downs Syndrome
different causes on the chromosomal level what are they?
Definition
1 in 650
94% non disjunction
5% translocation
1% mosaicism
Term
translocational Down's syndrome
what are the risks to the offspring?
is parental chromosomal analysis needed?
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
Term
which chromosomal translocation results in all offspring having Downs syndrome?
Definition
21:21 robertsonian translocation
Term
clinical features of edwards syndrome?
Definition
low birthweight
small mouth and chin
overlapping fingers
rocker bottom feet
cardiac and renal malformations
Term
clinical features of Patau
Definition
structural brain defects
scalp defects
small eyes
cleft lip and palate
polydactyly
cardiac and renal malformations
Term
what syndrome is 22q11?
what is 7q11
Definition
22q11 is Digeorge
7q11 is Wiiliams
Term
examples of AD conditions
Definition
achondroplasia
EDS
Marfans
HD
neurofibromatosis
Osteogenesis imperfecta
Tuberous sclerosis
polyposis coli
noonans
myotonic dystrophy
familial hypercholesteremia
otosclerosis
Term
name an x linked dominant inherited disorder? are males, females or both affected?
Definition
both males and females are affected in x linked dominant disorders e.g. Vit D resistant rickets
Term
what inheritance pattern does incontinentia pigment have?
Definition
x linked dominant.
male lethality is expected so you will only see women who are alive with this condition.
Term
conditions that are AR
Definition
CF
congenital adrenal hyperplasia
Friedrich ataxia
galactosemia
glycogen storage disorders
PKU
Sickle cell
Tay sachs
Thallasemia
Werdnigg hoffman disease
Term
x-linked recessive disorders
Definition
colour blindness red-tree
Duchenne and Beckers
Fragile X
G6PD
Hemophilia A and B
hunter syndrome (mucopolysacharidosis II)
Term
fragile X inheritence
mutation
which gene?
Definition
X linked recessive
CGG trinucleotide repreat
gene: FMR1
Term
features of fragile X
Definition
macrocephaly
macroorchidism
long face
large everted ears
prominent mandible
Mitral valve prolapse
joint laxity
scoliosis autism hyperactivity
moderate-severe learning difficulty
Term
what does VACTERL association stand for?
Definition
vertrebal anomalies
anal atresia
cardiac defects
tracheooEsophageal fistula
renal anomalies
limb defects
Term
how are syndromes recognised?
Definition
Gestalt clinical recognition
Term
define perinatal mortality rate
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
Term
define neonatal mortality rate
Definition
deaths of live born infants within the 1st 4 weeks after birth per 1000 live births
Term
what is low birth weight?
very low birth weight?
Definition
Low birthweight <2500g
very low <1500g

extremely low <1000g
Term
define small for gestation and large for gestation
Definition
small <10th centime
large >90th centile
Term
if a women is planning to get pregnant but is on retinoids, warfarin and sodium valproate what must happen before she gets pregnant?
Definition
she needs to stop these meds and be put on alternatives because they are teratogenic
Term
what side effects of prematurity can steroids given to the mother help reduce?
Definition
reduce RDS
reduce intraventricular haemorrhage
reduce neonatal mortality
Term
if the fetes has SVT what can be given to the mother to rx this?
Definition
digoxin or flecanide.
Term
what would you think if you saw free loops of small bowel in amniotic fluid during an USS?
Definition
you would think gastroschisis
Term
what is an abnormal lemon shaped skull together with an abnormal appearance of the cerebellum suggestive of?
Definition
Arnold-Chiari malformation. associated with spina bifida
Term
what happens to the insulin requirement in a diabetic pregnancy?
Definition
insulin requirements increase
Term
what malformations are infants born to diabetic mothers at particular risk for?
Definition
cardiac malformations
sacral agenesis
hypoplastic left colon
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?
Definition
anti-Ro
anti-La
Term
treatment for autoimmune thrombocytopenic purport in the infant?
what are the complications?
Definition
Rx: iv immunoglobins if they have severe thrombocytopenia and petichiae
complications: increase risk of intracranial haemorrhage following birth trauma
Term
what was diethylstilbestrol used for? what was a consequence of its use?
Definition
used for threaten miscarriage
subsequently associated with clear cell adenocarcinoma of the vagina and cervix in female offspring.
Term
characteristic facies of feral alcohol syndrome?
Definition
saddle shaped nose
maxillary hypoplasia
absent philtrum
thin upper lip
Term
what is phocomelia? which drug was this a consequence of in a lot of infants?
Definition
limb shortening
consequence of mothers taking thalidomide for morning sickness during pregnancy.
Term
teratogenic effects of warfarin
Definition
interferes with cartilage formation (nasal hypoplasia and epiphyseal stippling)
cerebral hemorrhages and microcephaly
Term
rubella

infection before how many weeks causes deafness, congenital heart disease and cataracts in 80%?
Definition
before 8 weeks


beyond 18 weeks the risk to fetes is minimal
Term
what is the most common congenital infection in the UK?
Definition
CMV
Term
what is the rx for toxoplasma gondii in infected babies
how long are they treated for?
Definition
Pyrimethamine and sulfadiazine

treated for 1 year
Term
what can asymptomatic toxoplasma gondii infected infants develop in adulthood?
Definition
Chorioretinitis
Term
when is a fetes at highest risk of getting varicella zoster infection?
Definition
if the pregnant mother develops chickenpox shortly before or after delivery.
Term
what does the APGAR score consist of?
Definition
heart rate
resp effort
muscle tone
reflex irritability
colour
Term
what does DOPE stand for in an intubated baby who is failing to increase their heart rate?
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.
Term
in neonatal resus when should you start chest compressions?
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
Term
preterm infants are particularly liable to hypothermia. in pre terms <30weeks what should we put them in?
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
Term
what kind of growth restriction pattern would you see in utero placental dysfunction?
what happens to these infants after birth?
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
Term
what does symmetrical growth restriction suggest?
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
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?
Definition
Neonatal urticaria AKA erythema toxicum
Term
what are port wine stains?
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
Term
strawberry nevus features
risks
mx
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
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?
Definition
we need to give 3 doses over the 1st 4 weeks because oral absorption is variable.
Term
if a mother is on anticonvulsant therapy when should she receive Vitamin K prophylaxis?
Definition
Vit K prophylaxis Orally from 36 weeks gestation
also baby should be given IM vitamin K after birth
Term
how is screening for CF performed in the Gutherie test?
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.
Term
what test is used to check hearing in the newborn?
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.
Term
what happens when the initial EOAE hearing test is abnormal?
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.
Term
causes of HIE
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
Term
features of mild, moderate and severe HIE
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.
Term
how can the neuronal damage in HIE manifest?
Definition
it can immediate from the primary neuronal death or may be delayed from repercussion injury.
Term
mx of HIE
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.
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?
Definition
bilateral abnormalities in basal ganglia and thalamus
lack of myelin in posterior limb of internal capsule
Term
describe capput succedaneum, cephalhematoma and chignon
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
Term
on examination of a new born there is a diffuse boggy swelling of scalp. what could this be?
Definition
a subaponeurotic hemorrhage
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?
Definition
surfactant deficiency
mother given steroids
more common in those born < 28 weeks
more common in boys
type II pneumocytes secrete surfactant
Term
signs of RDS they develop at delivery or within 4 hours of birth
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
Term
mx of RDS
Definition
clear airway
high flow humidified o2 therapy
CPAP
mechanical ventilation
Term
when does sucking and swallowing develop in the fetes?
Definition
34-35 weeks
Term
what does CXR in RDS show?
Definition
diffuse granular or ground glass appearance of the lungs
heart border becomes indistinct or obscured completely with severe disease.
Term
what complication occurs in 10% of infants that are ventilated for RDS?
Definition
PNEUMOTHORAX

breath sounds and chest movement on affected side are reduced
Term
in which area of the brain do pre term haemorrhages usually occur?
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.
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?
Definition
80-90% risk of cerebral palsy
spastic diplegia
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??
Definition
dilated ventricles may be due to intra ventricular haemorrhage

multiple bilateral cysts suggest periventricular leukomalacia
Term
features of necrotising enterocolitis
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
Term
define bronchopulmonary dysplasia
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.
Term
what is palivizumab? when is it given?
Definition
Monoclonal antibody against RSV
given to preterm infants with bronchiolitis to reduce the need for hospitalisation
Term
features of kernicterus
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.
Term
what is deficient or absent in Criggler-Najjar syndrome?
Definition
the enzyme glucuronyl transferase. this is the enzyme that conjugates the billirubin
Term
how long must you have jaundice for before it is classed as prolonged neonatal jaundice?
Definition
> 2 weeks or 3 weeks if preterm
Term
causes of prolonged jaundice?
Definition
breast milk jaundice
infection esp UTI
congenital hypothyroidism
Term
stap epidermis is a coagulase negative staphyloccocus. which Abx can be used for this?
Definition
Vancomycin: it is used for coagulase negative staphy or enterococci
Term
what does prolonged use of broad spec Abx in premature infants predispose them to?
Definition
fungal infections
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