PU Fetal Anomaly Detection 2 — Questions and Answers
Question 1: What is an omphalocele?
- A midline abdominal wall defect with herniation of organs covered by a membrane (Correct answer)
- A right-sided defect with free bowel herniation
- A diaphragmatic hernia
- A bladder exstrophy
Correct answer: A midline abdominal wall defect with herniation of organs covered by a membrane
An omphalocele is a midline defect at the umbilical cord insertion where abdominal organs herniate into the base of the cord, covered by a peritoneal/amniotic membrane.
Question 2: Nuchal fold thickness greater than how many millimeters at 16–20 weeks is considered abnormal?
- 6 mm (Correct answer)
- 4 mm
- 8 mm
- 10 mm
Correct answer: 6 mm
A nuchal fold thickness of 6 mm or greater measured at 16 to 20 weeks gestation is considered an abnormal finding and a soft marker for Down syndrome.
Question 3: What condition does a 'strawberry-shaped' fetal skull suggest?
- Trisomy 18 (Edwards syndrome) (Correct answer)
- Trisomy 21 (Down syndrome)
- Trisomy 13 (Patau syndrome)
- Turner syndrome
Correct answer: Trisomy 18 (Edwards syndrome)
A strawberry-shaped skull, with flattening of the occiput and pointed frontal bones, is a classic cranial marker associated with Trisomy 18.
Question 4: Which ultrasound finding is associated with congenital diaphragmatic hernia (CDH)?
- Stomach and bowel in the chest alongside the heart (Correct answer)
- Absent stomach bubble
- Hyperechoic lung mass
- Pericardial effusion
Correct answer: Stomach and bowel in the chest alongside the heart
In CDH, abdominal organs herniate through a diaphragmatic defect into the chest, causing the stomach and bowel to appear alongside or displacing the heart.
Question 5: What does a single umbilical artery (SUA) indicate?
- An association with chromosomal and structural anomalies (Correct answer)
- Normal variant with no clinical significance
- Always associated with IUGR
- Indicates placenta previa
Correct answer: An association with chromosomal and structural anomalies
A single umbilical artery (two-vessel cord) is associated with an increased risk of chromosomal abnormalities, structural anomalies, and IUGR compared to a normal three-vessel cord.
Question 6: Choroid plexus cysts (CPCs) are most strongly associated with which chromosomal abnormality?
- Trisomy 18 (Correct answer)
- Trisomy 21
- Trisomy 13
- Monosomy X
Correct answer: Trisomy 18
While CPCs can be a normal variant, when found in combination with other structural abnormalities, they are most strongly associated with Trisomy 18.
PU Fetal Anomaly Detection 2
What is an omphalocele?