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Topic 2: Genes and Health
2.6 Genetic Screening and Counseling
2.6.1 Prenatal Testing
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What is the primary purpose of prenatal testing?
Identify fetal genetic abnormalities
NIPT is a diagnostic test that confirms genetic abnormalities directly.
False
Amniocentesis is typically performed between 15-20
weeks
What is the primary method used in amniocentesis?
Extracting amniotic fluid
Chorionic villus sampling (CVS) has a slightly higher risk of
miscarriage
compared to amniocentesis.
Non-invasive prenatal testing (
NIPT
) carries no risk of miscarriage.
Which two prenatal tests are considered diagnostic?
Amniocentesis and CVS
One purpose of prenatal testing is to assess the
risk
of inherited conditions.
What are three potential decisions parents can make based on prenatal testing results?
Continue, prepare, terminate
Order the prenatal tests based on when they are typically performed during pregnancy.
1️⃣ Chorionic Villus Sampling (CVS) - 10-13 weeks
2️⃣ Non-Invasive Prenatal Testing (NIPT) - After 10 weeks
3️⃣ Amniocentesis - 15-20 weeks
Chorionic villus sampling (
CVS
) involves removing cells from the placenta.
Amniocentesis involves extracting amniotic
fluid
via a needle.
Why does chorionic villus sampling (CVS) have a slightly higher risk than amniocentesis?
It's performed earlier
What are the three main types of prenatal tests?
Amniocentesis, CVS, NIPT
Chorionic Villus Sampling (CVS) involves removing cells from the
placenta
Non-Invasive Prenatal Testing (NIPT) analyzes
fetal DNA
from maternal blood.
At what gestational age is Amniocentesis typically performed?
15-20 weeks
Chorionic Villus Sampling (CVS) is performed between
10-13
weeks.
After how many weeks can Non-Invasive Prenatal Testing (NIPT) be performed?
After 10 weeks
Prenatal tests help parents assess the risk of
genetic abnormalities
.
Match the prenatal test with its description:
Amniocentesis ↔️ Extracting amniotic fluid
CVS ↔️ Removing placental cells
NIPT ↔️ Analyzing fetal DNA from blood
The purpose of prenatal testing is to identify potential fetal genetic
abnormalities
.
Which prenatal test is highly accurate and has no risk associated with it?
NIPT
Diagnostic tests confirm or rule out specific
genetic conditions
.
Non-Invasive Prenatal Testing (NIPT) screens for common chromosomal
abnormalities
.
What method is used in NIPT to analyze fetal DNA?
Maternal blood analysis
Prenatal testing helps parents make informed choices about their
pregnancy
.
Steps in prenatal testing decisions
1️⃣ Assess risk of genetic abnormalities
2️⃣ Make informed decisions (continue pregnancy, prepare for special needs, terminate)
3️⃣ Prepare for childbirth with necessary knowledge
Screening tests identify individuals who may have a genetic condition, while diagnostic tests confirm or rule out specific
conditions
What is the primary purpose of screening tests?
Identify high-risk individuals
Diagnostic tests usually carry no risk to the mother or fetus.
False
Match the prenatal test with its example:
Screening test ↔️ NIPT
Diagnostic test ↔️ Amniocentesis
Steps of Non-Invasive Prenatal Testing (NIPT)
1️⃣ Maternal blood sample is taken
2️⃣ Fetal DNA in blood is analyzed
3️⃣ Results indicate risk of abnormalities
4️⃣ Further diagnostic testing may be needed
NIPT is beneficial due to its safety and high
accuracy
NIPT
poses no risk to the fetus.
When is amniocentesis typically performed during pregnancy?
15-20 weeks
Match the prenatal test with its key feature:
NIPT ↔️ No risk
Amniocentesis ↔️ Low miscarriage risk
Chorionic Villus Sampling (CVS) involves removing cells from the
placenta
What type of test is CVS (Chorionic Villus Sampling)?
Diagnostic
Amniocentesis is performed earlier in pregnancy than CVS.
False
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