General info

Question 1

Definition of infertility?

Answer 1

Failure to conceive after 12 months of unprotected intercourse OR inability to sustain a pregnancy through to live birth

Question 2

Percentage of couples who suffer infertility?

Answer 2

10-15%

Question 3

Causes of infertility in females (other than genetic) (8)

Answer 3

Increased weight
Thyrotoxicosis
Polycystic ovarian syndrome
Premature ovarian failure
Stress
Endometriosis
Antisperm antibodies
Increasing maternal age

Question 4

Causes of male infertility (5)

Answer 4

Infection
Antisperm antibodies
Trauma/torsion of testes
Chemo
Cryptorchidism

Question 5

What is cryptorchidism?

Answer 5

Absence of one or both testes in the scrotum

Question 6

How are antisperm antibodies produced?

Answer 6

Mixing of blood and sperm

Question 7

First-line investigations for infertility? (2)

Answer 7

Semen analysis

FSH/LH/AM

Question 8

Absence of sperm?

Answer 8

Azoospermia

Question 9

Low sperm count?

Answer 9

Oligospermia

Question 10

Methods of assisted reproduction?

Answer 10

IVF
ICSI
PGD

Question 11

How does PGD differ from IVF?

Answer 11

Embryos are screened for mutation prior to implanttaion

Question 12

Where and how are a) single gene disorders b) chromosomal disorders tested for PGD?

Answer 12

a) Edinburgh- segregation analysis using haplotypes

b) Glasgow- FISH

Question 13

Conditions/chromosomal abnormalities which are tested for? (8)

Answer 13

Cystic fibrosis
POF
Myotonic dystrophy
Kallman syndrome
ADPKD
Primary ciliary dyskinesia
Fragile X syndrome
Congenital adrenal hyperplasia

Question 14

Why may females be less severely affected by fragile X syndrome?

Answer 14

Think pattern of X inactivation