Testing for Genetic Disorders Flashcards
1
Q
When can ultrasound screening be done?
A
Any time, as early as 8-10 weeks but by 18 weeks major structural issues can be seen
2
Q
Which screening test can be done at 10-13 weeks?
A
Nuchal translucency- can give increased risks of having Down Syndrome but not definitive
3
Q
When can maternal serum testing be done and what is it good for?
A
15-17 weeks, shows increased Down Syndrome risk and spina bifida when used with ultrasound
4
Q
What is the diagnostic test that can be done the earliest?
A
Chorionic villus sampling at 11-12 weeks Taken from the placenta Definitive test for Down Syndrome Results take 1-2 weeks Small risk of miscarriage
5
Q
When can an amniocentesis be performed?
A
15-19 weeks Taken from babies DNA Definitive test for Down Syndrome Results take 1-2 weeks Small risk of miscarriage
6
Q
During IVF, when can an embryo be genetically analysed?
A
6-8 cell stage
Can tell sex of the embryo and genetic disorders
7
Q
How do these diagnostic tests get analysed in a lab?
A
Fluorescence in situ hybridisation
Polymerase chain reaction
