Preimplantation genetic diagnosis – an overview and recent advances 2016 TOG

Question 1

Most common AR condition in Europe/in the world

Answer 1

Europe: CF
Worldwide: Thalassaemia

Question 1

5 modes inheritance of monogenic diseases?

Answer 1

autosomal recessive
autosomal dominant
X-linked recessive
X-linked dominant
Y-linked

Question 2

Table showing, risk to offspring, examples and PDG for AR, AR & X-linked R

Answer 2

Question 3

Which chromosome is HLA gene found?

Answer 3

Chromsome 6
- HLA matching if need stem cell transplant for seriously ill child.

Question 4

How common are mitochondrial disorders?

Answer 4

1:5-8000
Most common group of inborn errors of metabolism.
Maternal inheritance

Question 5

Table comparing different methods of genetic diagnosis for different gene abnormalities.

Answer 5

Question 6

Baseline investigation required for PGD (similar to IVF)

Answer 6

Question 7

For which conditions in ICSI performed?

Answer 7

Single gene disorders & infertile men

Question 8

At which stage can biopsy be performed?

Answer 8

1st polar body - cleavage stage
2nd polar body - blastocyst stage

Blastocyst - stage preferred, more DNA material better sensitivity/specifity, better rate implantation