2. Dear Dr Claus,
I would be very grateful if you could see Mr and Mrs Snow in your clinic
who have been trying for a baby for some time now. Unfortunately, Mrs
Snow has suffered three first trimester miscarriages and the couple are
finding it hard to come to terms with this. There is a positive family
history on the paternal side with Mr Snow’s mother suffering from two
miscarriages. His sister is also in very early pregnancy and may also
therefore benefit from cytochromal genetic analysis and a referral to
your clinic.
I have arranged for lupus anticoagulant and anticardiolipin antibody
studies and a cytogenetic chromosomal analysis for each partner and
the results should now be available to you. On further discussing the
situation with the couple I have mentioned the possibility of a genetic
cause for their recurrent miscarriages with this being the reason for
their referral to your clinic for further information.
I hope you are able to help this couple.
Yours sincerely,
Dr. S. Leigh
3. History
• Personal
• Family History
– Affected and at risk relatives
– Automimmune disease
Why does miscarriage happen?
– Uterine abnormalities
– Immunologic reasons
– Medical (thyroid, DM)
– PCOS
– Infection
– Lifestyle
– Genetics
• Commonest – trisomy 16
5. Genes are found
in paired
chromsomes
Each parent has 23
chromosome pairs and a
pair of sex chromosomes
Each parent passes on one
chromosome from each
pair to their offspring
