Recurrent miscarriage

Question 1

Pregnancy loss stats

Answer 1

~15-20% of recognised pregnancies miscarry

2-5% of women will have two or more miscarriages

~50% of miscarriages are chromosomally abnormal

Question 2

Aneuploidy in miscarriage

Answer 2

Miscarriages occur in:

95% of trisomy 13 and 18
80% of trisomy 21

Recurrence risk 1% (possibility of gonadal mosaicism or Robertsonian translocation)

Question 3

Translocations and recurrent miscarriage

Answer 3

~5% couples with recurrent miscarriage (3 or more) carry a balanced translocation

Question 4

Non-genetic risk factors for recurrent miscarriage

Answer 4

1. Epidemiological (maternal/paternal age and no. of previous miscarriages)
2. Antiphospholipid syndrome
3. Anatomical factors (Uterine malformations/Cervical weakness)
4. Endocrine factors (diabetes/thyroid disease)
5. Infective agents

Question 5

Investigation of recurrent miscarriage

Answer 5

Testing for antiphospholipid syndrome
Chromosome testing on POC
Pelvic unltasound (anatomical)

Question 6

Abnormal parental karyotype

Answer 6

Referral to clinical geneticist
Genetic counselling

Possibility for PGD or prenatal diagnosis