Genetics in Repro medicine

Question 1

Targetted screening- Pre-conception / Early pregnancy

Answer 1

Family history – AD / AR/ XL
Previous obstetric history
Population carrier screening
AR or XL

Question 2

Mutation in Haemoglobin Gene- HbS

Answer 2

sickle cell disease /anaemia

Question 3

what are complications of sickle cell disease

Answer 3

stroke
cerebrovascular disease

retinopathy

hearing loss

balance problems

asthma
acute chest syndrome
PE

Question 4

autosomal recessive

Answer 4

adventitia screening?

Question 5

Reproductive choices for Inherited / known disease in family

Answer 5

Early detection & treatment
Pre-implantation genetic diagnosis: PGT-M
Prenatal diagnosis
NIPD- non-invasive prenatal diagnosis (NIPT is trisomy screening)

Remain childless / adopt
Gamete donation

Question 6

preimplantation diagnosis

Answer 6

genetic testing

Question 7

prenatal diagnosis

Answer 7

chronic villus sampling

Question 8

Screening for aneuploidy- maternal age

Question 9

Investigation of abnormal scans

Answer 9

Chromosomal microarray
Gene panel e.g. skeletal dysplasia
Quick, targeted interpretation
Prenatal exome sequencing
interpretation has to be phenotypically driven
Slower, more expensive

Question 10

Investigation of seriously ill neonate

Answer 10

Targetted testing
Rapid trio-whole exome or whole genome sequencing
Time intensive but cost-effective if case selection is good