Genetics Flashcards
1
Q
What reasons are used for referral to genetics?
A
- Family history genetic condition
- Diagnosis of genetic conditions (Known/conditions)
- Management of genetic conditions
- Genetic counselling
2
Q
When may genetics testing be involved in reproductive choices?
A
Testing at birth Chorionic villus sampling Amniocentesis Pre-implantation genetic diagnosis Adoption Gamete donation Non-invasive prenatal diagnosis / testing
3
Q
What can Noninvasive Prenatal Testing (NIPT) be used in the screening of?
A
Downs Syndrome
4
Q
What is the inheritance of duchenne muscular dystrophy?
A
X-linked
5
Q
What screening is used for Down syndrome?
A
Maternal age Triple screening CUBS screening Seletion for amniocentesis Free fetal DNA
6
Q
List some common recessive disorders that raise screening issues?
A
- Cystic Fibrosis (N. Europe)
- Sickle Cell Diseases (Africans)
- Thalassaemias (Mediterranean, Asia)
- Ashkenazi Jews
- Tay-Sachs disease
- CFW1282X
- Breast/ovarian cancer
7
Q
What carrier testing is available for targeted testing in the UK?
A
- CF mutation
- Haemoglobinpathy, MCV, Hb electrophoresis, sickledex
- Tay-Sachs enzyme activity
8
Q
What is screened for in blood spot genetic screening?
A
Phenylkutonuria (PKU) Congenital Hypothyroidism (CHT) Sickle Cell Disorders (SCD) Cystic Fibrosis (CF) MCADD - medium chain acyl-coA deydrogenase deficiency Homocysteinuria Isovaleric acidaemia Maple syrup urine disease Glutaric aciduria type 1
