Foetal malformations
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What are the most common forms of malformation?
AVM - arteriovenous malformations. Lymphatic malformation.
What is an example of disruption?
Structural problem inutero like amniotic bands due to oligohydramnios causing ischaemia an failure to form limbs etc.
What is the Potter sequence?
Issue with renal tract -> then oligohydramnios -> then skeletal deformity due to limited movement -> then lungs fail to develop correctly as the fluid needs to be inhaled to expand the lungs - other internal organ problems including thymic hypoplasia.
What can caused potter’s sequence?
Valves in the urinary tract Autosomal recessive polycystic kidney disease
What is ageensis compared to hypoplasia?
An organ not developing at all, vs it not developing to its required size.
What is atresia?
The absence of a normal opening. E.g. biliary atresia.
What are the causes of malformations and foetal anomalies?
Most common is unknown (60%) Then multifactorial (25%) Then genetic (15%) Then environmental (6-10%)
Necrotising entercolitis is what?
Ischaemic damage to the gut for unknown reasons, though it usually affects prematuraly born babies so is likely related to immaturity.
How to babies with necrotising enterocolitis present?
Usually bowel obstruction
What is foetal hydrops?
Anasarca and effusions throughout the baby intrauteraine. Usually lethal.
What causes foetal hydrops?
Immune - used to be the results of rhesus incompatibility. Non-immune - cardiovascular disease and failure.
What are the most common inborn metabolic errors?
Galactasaemia and CF
How’s is Ewing’s sarcoma diagnosed?
FISH - breakapart sign showing that there has been a pathological chromosome rearrangement -EWSR1
How is rhabdomyosarcoma diagnosed?
FISH - fusion sign - the pathological fusion of FOXO-PAX3
How is prognosis in neurofirboscarcinoma determined?
Microarray showing chromosome 2 MYCN overexpression FISH and microarray showing 1P deletion
What is a pilocytic astrocytoma?
Cystic looking but truley low grade malignant brain tumour
What is a Wilm’s tumour?
A malignant and agressive renal tumour that affects children