Diagnostic Genetic Testing Flashcards
List 7 prenatal diagnosis techniques.
Maternal serum test Ultrasound Ultrasound for gender isolation of foetal cells from maternal serum Amniocentesis Chronic villus sampling Pre-implantation genetic diagnosis
List three non-invasive prenatal testing techniques.
Maternal serum tests
Ultrasounds
Ultrasounds for gender
Isolation of foetal cells from maternal serum
List three invasive prenatal techniques.
Amniocentesis
Chronic villus sampling
In what cases may prenatal diagnosis take place?
Family history Tested as carriers Increasing maternal age Risk of a neural tube disorder Abnormal results from ultrasounds Routine
Explain what amniotic fluid alpha-fetoprotein (AFAFP) diagnosis is?
Detection of alpha-fetoprotein in the amniotic fluid, high levels of which are associated with NTD.
What is alpha-fetoprotein?
Glycoprotein produced by the foetal liver, which circulates in the foetal serum and is later secreted into the amniotic fluid.
What is maternal serum alpha-fetoprotein screening?
Non-invasive screening for alpha-fetoprotein using the mother’s serum.
What is Pregnancy associated plasma protein (PAPP-A)?
Protein that occurs in decreased quantities during the first semester when pregnancy involves trisomy.