Question 1

Which of the following is a disadvantage of chorionic villus sampling compared to amniocentesis?&#10;A) The need to culture cells before diagnostics can be performed&#10;B) CVS is done later in pregnancy than amniocentesis&#10;C) Higher rates of complication&#10;D) Biochemical analyses cannot be performed on CVS samples&#10;E) Fewer chromosomes can be analyzed specifically

Accepted Answer

Chorionic villus sampling has a higher rate of complications compared to amniocentesis, including miscarriage and limb defects.

Question 2

Which of the following is used as a prenatal screen for Down syndrome?&#10;A) Ultrasonography for polydactyly&#10;B) Ultrasonography for increased nuchal translucency&#10;C) Increased maternal serum AFP&#10;D) Ultrasonography for brain malformations&#10;E) All of the above

Accepted Answer

Ultrasonography for increased nuchal translucency is the most commonly used prenatal screen for Down syndrome. The other options listed may indicate other conditions or abnormalities, but are not specific to Down syndrome.

Question 3

There is evidence that children conceived as a result of artificial reproductive technologies are at greater risk of what type of disorder?&#10;A) Aneuploidy&#10;B) Single gene disorders&#10;C) Imprinting disorders&#10;D) Balanced translocations&#10;E) Mitochondrial disorders

Accepted Answer

Studies have shown that children conceived through ART have a slightly increased risk of developing imprinting disorders such as Beckwith-Wiedemann syndrome and Angelman syndrome. These disorders are caused by disturbances in the epigenetic regulation of genes during embryonic development.

Question 4

Detection of a rocker-bottom foot on ultrasonography is suggestive of which chromosomal abnormality?&#10;A) Trisomy 21&#10;B) Trisomy 18&#10;C) Trisomy 13&#10;D) Philadelphia chromosome&#10;E) Monosomy X

Accepted Answer

A rocker-bottom foot is a convex sole resulting from a prominent calcaneus and metatarsal heads. It is associated with Trisomy 18, also known as Edwards Syndrome, a chromosomal abnormality leading to developmental delay, growth retardation, and a high rate of miscarriages.

Deck 21: Prenatal Testing and Reproductive Genetics