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MRCOG PART 2 SBAs and EMQs

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Mock essay from busyspr.com- counselling

Mock essay from busyspr.com- counselling Posted by clarice M.
A 35 year old woman whose first child has cystic fibrosis is planning a second pregnancy. How would you counsel her?

History:
Assess her knowledge and explain mode of inheritance of cystic fibrosis (CF). If she is with the same partner then her risk of another affected child is 1:4. Assess if there is a family history of other affected members with CF as this could be a new mutation. Background risk of being a carrier is 1:25. Enquire about impact of current child with cf on family.

Enquire about menstrual history and if had any difficulty conceiving as some carriers are subfertile.

INFO:
Genetic tests for her and her partner to assess carrier status is available but will only identify 80% of common mutations. Testing has implications for other family members. Knowledge of carrier status may guide further management in the next pregnancy for example whether or not to proceed with an invasive test such as amnio or cvs.

Discuss timing of cvs and amnio. Pros and cons of cvs and amnio. Departmental figures for miscarriage risk.

Enquire about what she would do if the fetus tests positive. If will carry on with the pregnancy regardless, then another option is postnatal testing of the fetus as cvs/amnio carries a risk of miscarriage.

If she would opt for a termination if the fetus tests positive earlier testing would offer opportunity for medical termination. Discuss benefits and risks of medical termination, alternatives-surgery.

Provide written literature and info regarding cystic fibrosis support groups






Posted by Joanna L.
Earlier testing would allow surgical termination, medical is available at all gestations.

Also you didn\'t mention pre-implantation genetic diagnosis.

Do you remember all the figures off by heart? V impressive if so!
Posted by clarice M.
Autosomal recessive mode of inheritance means always 1:4 of affected child.
25 is a quarter of 100
80 is 20x4.

A play of numbers :)
Posted by Anjum M.
rubella screning and folic acid