Genetic Screening Flashcards
What is genetic screening used for?
Genetic screening involves testing individuals or embryos for specific genetic conditions to provide information about genetic risks and assist with reproductive decision-making.
What is carrier screening?
Carrier screening tests identify individuals who carry one copy of a mutated gene but do not show symptoms, such as for conditions like cystic fibrosis.
Why is carrier screening important?
Carrier screening helps individuals understand the likelihood of passing the condition to their children, especially in populations with higher incidences of specific genetic disorders.
What is Pre-Implantation Genetic Diagnosis (PGD)?
PGD is a technique used with IVF to test embryos for genetic conditions before implantation to select embryos without genetic mutations.
How is PGD performed?
After fertilization, a cell is removed from the embryo, and its DNA is tested for specific genetic mutations. Embryos without mutations are implanted into the uterus
What is the purpose of PGD?
PGD allows couples at risk of passing on genetic conditions to select embryos free from the disorder, preventing the birth of children with inherited diseases like cystic fibrosis.
What is prenatal testing?
Prenatal testing is performed during pregnancy to assess the risk of a genetic disorder in the fetus.
: What is amniocentesis?
Amniocentesis involves taking a sample of amniotic fluid from the sac surrounding the fetus, typically after 15 weeks of pregnancy, to test for genetic conditions, including cystic fibrosis.
What are the risks of amniocentesis?
There is a small risk of miscarriage, estimated to be between 1 in 100 and 1 in 200.
What is Chorionic Villus Sampling
CVS involves taking a sample of tissue from the placenta, typically between the 10th and 13th week of pregnancy, to test for genetic disorders by analyzing fetal cells.
What are the risks of CVS?
The risk of miscarriage for CVS is slightly higher than for amniocentesis, around 1 in 100.
