Congenital abnormalities and their identification Flashcards
What sort of abnormalities does congenital abnormalities encompass?
Structural deformities; chromosomal abnormalities; inherited diseases; intrauterine infections and drug exposure
What is a screening test?
Available for all women and gives a measure of the risk of the fetus being affected by a particular disorder. The ‘higher-risk’ patient can then be offered a diagnostic test.
What is a diagnostic test?
Performed on ‘high risk’ women to confirm or refute the possibility.
What does a good screening test need to be?
Cheap, high sensitivity, high specificity, have an acceptable diagnostic test, condition should be serious,
What is sensitivity?
The proportion of subjects with the condition classified by the test as screen positive for the conditions
What is the negative predictive value?
The probability that a subject who is screen negative will not have the condition
What is specificity?
The proportion of subjects without the condition who are classified as screen negative
What is the screen positive rate?
The proportion of subjects who are classified as high risk by the test
What is the positive predictive value?
The probability that a subject who is screen positive will have the condition
What is the false positive rate?
The number classified as high risk who do not nevertheless have the condition
What methods can be used for prenatal testing of congenital abnormalities?
Maternal blood testing, ultrasound, fetal MRI, 3D ultrasound, amniocentesis, chorionic villus sampling, preimplantation genetic diagnosis (IVF)
What can maternal blood testing be used to prenatally test for?
Neural tube defects (Alpha fetoprotein raised), chromosomal abnormalities (beta-HCG, PAPPA, AFP, oestriol and inhibin A will be altered).
Why is AFP raised in neural tube defects?
It is a product of the fetal liver, when the fetus has an open neural tube defect maternal levels are often raised
Can US be used as a screening of diagnostic test?
Both. Screening for downs and cardiac (nuchal translucency). Diagnostic for structural abnormalities
When is amniocentesis performed?
15 weeks gestation
What is the risk of miscarriage of amniocentesis?
1%, lower risk than CVS
When is chorionic villous sampling performed?
11 weeks gestation
What is CVS used to diagnose?
Chromosomal problems, autosomal dominant and recessive conditions