ANSWERS SURE A+
✔✔Alpha-fetoprotein (AFP) - ✔✔A blood test that measures the level of alpha-
fetoprotein in the mothers' blood during pregnancy as an indicator of possible birth
defects in a fetus
✔✔Unconjugated estriol (uE3) - ✔✔Part of the triple/quad/penta maternal screenings
performed in the 2nd trimester to detect Trisomy 21
✔✔Cell-free fetal DNA testing - ✔✔fetal DNA is sampled from mothers blood
-screening test
-must be confirmed with further testing
-placenta to mothers blood stream
-noninvasive
✔✔chronic villus sampling - ✔✔a test made in early pregnancy to detect congenital
abnormalities in the fetus. A tiny tissue sample is taken from the villi of the chorion,
which forms the fetal part of the placenta.
-VERY INVASIVE
-baby tissue
-risk of miscarriage
, ✔✔amniocentesis - ✔✔needle puncture of the amniotic sac to withdraw amniotic fluid
for analysis
✔✔Newborn screening - ✔✔tests performed to help early detection of disease,
especially genetic disorders, at birth
-Metabolic - PKU
-Endocrine - Congenital Adrenal Hyperplasia
-Hemoglobin -Sickle cell anemia
-Genetic-cystic fibrosis
✔✔adult tests - ✔✔Population Carrier Screen
Predisposition Test
Predictive Test
✔✔population carrier screen - ✔✔identifies heterozygotes-people with one copy of a
mutant gene
✔✔Predisposition test - ✔✔Also known as a Patch Test, is applying a small amount of
product on the skin to check for sensitivity and/or an allergic reaction to a
product/chemical
-detects alleles associated with illness (ex. BRCA 1 gene *breast cancer)
✔✔predictive testing - ✔✔a genetic test designed for asymptomatic persons wanting to
know about their risk of getting a genetic disease in the future
-huntingtons
-later in life
✔✔Direct to consumer genetic testing - ✔✔•DNA-based tests for traits, susceptibilities,
and genetic diseases to the general public
-used to inform not diagnose
-marketed to general public
-not all tests are regulated
✔✔genetic testing - ✔✔The use of methods to determine if someone has a genetic
disorder, will develop one, or is a carrier
✔✔Chromosomes - ✔✔threadlike structures made of DNA molecules that contain the
genes
✔✔genetic counseling - ✔✔guidance for prospective parents on the likelihood of
genetic disorders in their future children
✔✔Reasons to seek genetic counseling - ✔✔-family history of abnormal chromosomes