Genetic carrier screening on MBS now – what does that mean?

25th November 2023, A/Prof Chee L Khoo

genetic carrier screening

Reproductive genetic carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) has become available on the Medicare Benefits Scheme (MBS). Screening for those three conditions is recommended for all couples prior to, or in the early stages of pregnancy. Great but what is this genetic screening all about?…

Gastrointestinal Malignancies in Cystic Fibrosis

July 15, 2018, Dr Chee L Khoo

It’s always sad to lose a patient due to complications of a disease. It’s even harder if the patient is another doctor especially if the disease has well recognised complications. Many of you may have read about the sad story of Dr Rana, known to have cystic fibrosis, who died of complications resulting from an unrecognised bowel obstruction.…