Prenatal Genetic Counseling

Frequency of Turner syndrome in pregnancy is

A. 1 in 7500 live births
B. 1 in 5000 girls
C. 1 in 15,000 live births
D. 1 in 1000 girls

Not true of serum screening options for aneuploidy

A. First-trimester screen – 10–13 wks
B. Triple screen – 15–22 wks
C. Quad screen – 15–22 wks
D. Cell-free DNA – 10–13 wks

Not included in Quad screen

A. uE3
B. Papp-A

All are risk factors for Prenatal genetic screening except

A. Uncontrolled diabetes mellitus in the periconceptional period
B. Polyhydramnios
C. Abnormal maternal serum screening
D. Recent history of miscarriage

MSAFP level is elevated in all of the conditions except

A. Open neural tube defects
B. Rh isoimmunization
C. Gestational trophoblastic disease
D. Multiple pregnancy

Not true of Chorionic Villus Sampling (CVS)

A. Limb reduction deformity (LRD) is low when CVS is performed after 9 completed weeks of gestation.
B. Villi are collected from the chorion frondosum under ultrasonic guidance
C. Transcervical-CVS is avoided in cases with fibroid uterus
D. Karyotype result need culture of cells

In shorts

  • Quadscreen can detect trisomy 21 in 85% of cases with a false-positive rate of 0.9%. Levels of serum in cases with trisomy 21:
    hCG—increased; uE3—reduced; inhibin A—elevated; MSAFP—reduced.
  • Triple test in an affected pregnancy shows- levels of MSAFP and uE3 tend to be low while that of hCG is high.
  • Materials for study in Chorionic Villus Sampling (CVS) are trophoblast cells whereas in amniocentesis it is fetal fibroblasts.

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