Neonatal Med Flashcards
What is listeria monocytogenes?
Bacterial infection transmitted in ripe cheese, pate, ready-to-eat foods – causes gastroenteritis + amnionitis
Features of Edwards syndrome
18 – small elongated head (strawberry shaped), rocker bottom feet, increased incidence of GI + renal abnormalities, VSD
Features of Pataus syndrome
(13) – IUGR, cleft palate, atresias, heart disease
Features of Turners
XO – cystic hygroma, oedema + cardiac defects. Short stature, cubitus valgus, coarctation of aorta, bicuspid aortic valve
Features of XXY
Klinefelters = phenotypically tale male, gynaecomastia, associated with hypothyroidism, diabetes, asthma
What is anencephaly?
skull vault + cerebral cortex absent – stillborn
What is encephalocele?
bony defect in cranial vault which brain tissue protrudes through
What is renal dysplasia?
kidneys have large non-communicating cysts with central core
What is polycystic kidney disease?
autosomal dominant, causes issues in 50s. Infantile disease presents with cysts, oligohydramnios, large bright kidneys
What is Potter’s syndrome?
bilateral renal agenesis associated with extreme oligohydraminos causing pulmonary hypoplasia + limb deformity
What are the consequences of severe oligohydraminos?
pulmonary hypoplasia. Can occur in PPROM or Potter’s
What are the genetics in Huntingtons?
CAG trinucleotide expansion on ch4 = allows prenatal testing
What is Tay-Sachs?
Ashkenazi Jews, due to build up of gangliosides in CNS causing developmental delay, paralysis + blindness
What does a sinusoidal pattern on CTG signify?
can indicate fetal anaemia but may be result of behaviour eg thumb sucking
