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when are the majority of congenital malformations detected?
antenatally USS 70%
what does congenital refer to?
any condition present at birth
what are the causes of cleft lip and palate?
- inherited - polygenic
- maternal AED
what can be used to help babies with cleft lip/palate to feed?
- special long teats or other feeding devices for bottlefed
- some may be able to breastfeed
when is surgical repair carried out for cleft palate?
when is surgical repair carried out for cleft lip?
- either EARLY: first week (for cosmetic reasons)
- or late: 3 months
what is Pierre Robin anomaly?
- posterior displacement of the tongue
- micrognathia - small jaw
- midline cleft of the soft palate
what can be done to maintain airway potency until the growth of the mandible is established?
- prone positioning - also good as allows tongue to fall forward
- prevent upper airway obstruction
what is usually present with an oesophageal atresia?
what is assoc with oesophageal atresia in uteri?
as it is unable to swallow - polyhydramnios
how is diagnosis of oesophageal atresia made and when should it be made?
- before first feed
- pass a feeding tube into stomach and checking its location by x-ray
if not diagnosed at birth, what are clinical presentation of oesophageal atresia?
- persistent salivation and drooling form the mouth after birth
- with choking
- cyanotic episodes
- infant: cough and choke when fed
what are complications of oesophageal atresia?
aspiration into lungs of saliva or milk and acid secretions from stomach
pending transfer to a neonatal surgical unit, what is Rx for oesophageal atresia?
continuous suction applied to the feeding tube to reduce aspiration of saliva and secretions
what do 40% of cases of oesophageal atresia also have?
- associated abnormalities - VACTERL
- limb (radial)
what are the 2 main abdominal wall defects?
what is gastroschisis?
- bowel protrudes WITHOUT any covering sac
- through a defect in the AAW
where does gastroschisis occur - where in AAW?
adjacent to umbilicus
what is exomphalos?
- abdominal contents herniate through the umbilical ring
- covered with a sac formed by the peritoneum and amniotic membrane
what is other name for exomphalos?
is gastroschisis or exomphalos associated with other congenital abnormalities?
what blood parameter is raised in pregnancy if there is gastroschisis?
which chr defect is exomphalos assoc with?
T18 Edward's syndrome
what are the 3 types of neural tube defects?
- spina bifida
what causes neural tube defects? and when do they occur?
failure of fusion of the neural plate in the first 28 days after conception
why has the incidence of neural tube defects decreased?
- better maternal nutrition
- folic acid supplementation
- better antenatal screening
which region of the spine do NTD occur?
which part of the spine failed to fuse in spina bifida occult?
what are the signs of spina bifida occult?
- overlying skin lesion
- tuft of hair
- small dermal sinus
what can cause neurological deficits in spina bifida occult?
- tethering of the cord
- can cause neurological deficits with GROWTH
what is a meningocele?
smooth intact skin covered cystic swelling is filled with CSF
what is Rx of meningocele?
excision and closure of the defect is undertaken after 3 months
what is prognosis of meningocele?
no neurological deficit
what is the other term for myelomeningocele?
overt spina bifida
what is myelomeningocele?
- unfused neural plate
- exposed meninges
- leaking CSF
what is prognosis of myelomeningocele?
near deficit always present
what are the neurological deficits in myelomeningocele?
- motor and sensory loss in lower limbs
- neuropathic bladder and bowel
what other spinal deformity is present with myelomeningocele?
what is myelomeningocele associated with? why?
- due to Arnold Chiari malformation - herniation of cerebellar tonsils through the foramen magnum
what is Rx of myelomeningocele and why?
- to prevent infection
- not to restore neurological function!
what is the medical term for club foot?
congenital talipes equinovarus
what is the deformity in club foot?
entire foot is fixed in an inverted and supinated position
what should congenital club foot be distinguished from?
positional tallies where deformity is mild and can be corrected with passive manipulation
when are most diaphragmatic hernias diagnosed? and what side are they on?
what is initial resuscitation of diaphragmatic hernia?
early intubation and NG aspiration to avoid inflation of bowel
what is definitive Rx of diaphragmatic hernia?
surgical repair once neonate is stable
if not detected at antenatal USS, how does diaphragmatic hernia present?
- failure to respond to resuscitation at birth
- apex beat and HS displaced to R
- poor air entry on left
why is there such a high mortality assoc with diaphragmatic hernia?
- due to the inevitable pulmonary hypoplasia
- due to compression of fetal lung
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