Types of Tests
Testing Details
Placental Labs
Timing
TORCH Infections (each is worth 300)
100
In what phase of cell division is karyotyping performed?
Metaphase
100
What types of fetal abnormalities are cfDNA tests best for screening
trisomies 21, 18, and 13
100
↑b-HCG, ↑Inhibin A, ↓AFP, ↓free estriol
is most concerning for what fetal abnormality?
Down Syndrome
100
During which weeks do you provide a quad screen? (β-hCG, AFP, unconjugated estriol, inhibin A)
Weeks 15-22.
100
What is the "O" in TORCH infections?
- Syphilis (Treponema pallidum)
- Varicella-zoster virus (chickenpox and shingles)
- Parvovirus B19 (fifth disease)
- Hepatitis B and C
- Human Immunodeficiency Virus (HIV)
- Zika virus
- Listeria
200
Why use CVS vs Amniocentesis for sample collection?
Timeline: CVS from 10-14 weeks; amniocentesis after 15 weeks.
200
What two tests are used to confirm positive cfDNA screenings?
Amniocentesis and CVS
200
↑ AFP; normal β-hCG, normal inhibin A, and normal unconjugated estriol
is most concerning for what fetal abnormality?
Neural Tube Defects
200
At what range of gestational weeks is amniocentesis performed
Weeks 15-20
200
At what 3 timepoints do you screen for syphilis in pregnancy
screen at initial prenatal visit, 28 weeks, and delivery
300
What does Chromosomal Microarray (CMA) test for?
Small deletions or duplications (copy number variants)
300
What are the anatomical landmarks for fundal height (be specific)?
superior (upper) edge of the pubic symphysis to top of uterine fundus
300
↓b-HCG, ↓Inhibin A, ↓AFP, ↓free estriol
is most concerning for what fetal abnormality?
Trisomy 18
300
At what range of gestational weeks is CVS performed
Weeks 10-13
300
What is the treatment for positive GBS screening during pregnancy
intrapartum antibiotic prophylaxis
400
Sample collection for AFP confirmation testing (not quad screen/cdFNA) requires which collection method?
Only amniocentesis fluid (not CVS)
400
What is this image depicting: 
Array Comparative Genomic Hybridization (aCGH)
- I will accept Chromosomal Microarray as correct as well.
400
Increased levels of acetylcholinesterase in the amniotic fluid can primarily be a sign for what?
Neural tube defects
400
Until what week is crown rump ultrasound a preferred fetal measurement?
Up to 14 weeks.
- After the fetus becomes too mobile to measure accurately; switch to head circumference or femur length.
500
What are the most common specific genes tested in targeted gene testing? (Only need 1)
• CFTR (Cystic fibrosis)
• SMN1 (Spinal muscular atrophy / SMA)
• HBA1 / HBA2 (Alpha-thalassemia)
• HBB (Beta-hemoglobinopathies, including sickle cell disease)
• Fragile X syndrome
500
A fetus is screened for a gene via aCHG. The result shows: log₂ > 0. What does this mean?
More patient DNA → duplication
- Patient/reference was: 3/2 = 1.5; log₂(1.5) ≈ +0.6
500
↑ AFP; normal β-hCG, inhibin A, and unconjugated estriol. Neural tube defects have been ruled out. What is likely the cause?
Incorrect estimation of gestational age
500
Some states ban pregnancy termination after 10 weeks. On a molecular level, why is this an obstacle to decision-making based on cfDNA testing?
10 weeks is the point at which 10% of cfDNA is present in amniotic fluid. Before this point, the mother's cfDNA will likely interfere with the testing.