Genetic specific studying Flashcards
What does carrier screening for hereditary conditions consists of
blood draw
When is carrier screening for hereditary conditions done
Optimal before pregnancy
but
can be done at any time
What does First trimester screen for chromosomal conditions consists of
Nuchal translucency (NT) + blood draw for maternal serum markers
When is First trimester screen done
10 (or 11) - 14 weeks
What does CVS for chromosomal conditions test consists of
sampling for chorionic villus
When is CVS done
10-13 (or 14) weeks
What does cell-free DNA for chromosomal conditions consists of
Blood draw
when is cfDNA for chromosomal conditions done
10 weeks - term
What does amniocentesis for chromosomal conditions and Neural tube defects (NTDs) consist of
Direct analysis of sample of amniotic fluid
When is amniocentesis for chromosomal conditions and Neural tube defects (NTDs) done
15 weeks and later
What does Quad screen AKA “second trimester screen” for chromosomal conditions and NTDs consist of
Blood draw for 4 analytes
When is Quad screen AKA “second trimester screen” fo rchromosomal conditions and NTDs done
15-22 weeks
(optimal 16-18)
What does integrated and sequential screens for chromosomal conditions and NTDs consist of
Combines first trimester (nuchal translucency (NT) + blood draw for maternal serum markers) and second trimester (Quad screen) screens
When is integrated and sequential screens for chromosomal conditions and NTDs done
First trimester portion = 10-14 weeks
Second trimester portion = 15-22 weeks
What is the only test done for hereditary conditions
Carrier screening
