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You are seeing a five year old girl for a follow up in the Community Paediatric clinic. She has a complex medical history including a ventricular septal defect, which required surgical closure, and a cleft palate. She has learning difficulty with particular problems with language and communication. Her facial features are unusual; her forehead is broad with bifrontal narrowing, she has epicanthic folds, a broad upturned nose, a long and shallow philtrum and a long upper lip. In her family history, her mother has epilepsy and has been on medication since she was a child, her father has severe dyslexia and a maternal cousin has been diagnosed with autism.The mother would like to have another baby but is concerned about another child having similar medical problems.What is the most appropriate advice to give the mother to aim to reduce this risk?


A、 Advise her to avoid alcohol in a future pregnancy
B、 Advise that she take folic acid daily for 6 weeks prior to conception until the end of the first trimester
C、 Ask her GP to refer her to a Neurologist to review her anticonvulsant prescription and dosing
D、 Ensure that her blood glucose levels are monitored closely in pregnancy and treated appropriately
E、 Refer the daughter to a Clinical Geneticist for investigation as, if a genetic cause is identified, she could have testing in a future pregnancy

发布时间:2025-07-18 10:59:51
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答案:C
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