Genetics in obstetric care Flashcards
what do people need to know before undergoing a genetics test?
what the test is for how likely is it to be positive what happens if it is positive what if its negative what is false positive/false negatives implications for other family members if its positive DNA stored
what invasive and non-invasive methods are used for genetic testing in pregnancy?
chorionic villus sampling
amniocentesis
non-invasive prenatal testing
when can amniocentesis be carried out?
14-20 weeks
who can chorionic villus sampling be carried out?
11-14 weeks
what is tay-sacks disease?
progressive, genetic, lysosomal storage disease hexosaminidase A (hex A) deficiency
what methods of newborn screening are carried out after birth?
clinical examination
blood spot
hearing
when is the dried blood spot carried out?
5 days
why do we screen babies?
to enable early detection of pre-symptomatic babies
to enable early treatment to improve health
to reduce anxiety caused by uncertainty over symptoms before diagnosis is made
what is PKU?
phenylketonuria
inability to break down phenylalanine (amino acid)
if they are treated with strict diet, can prevent disability)
what is MCADD?
recessive condition
inability to break down fat to make enough energy
serious life threatening symptoms occur quickly
when can non-invasive prenatal testing be carried out?
week 10
