Week 2

Question 2

When does facial development begin during gestation?

Answer 2

Around 4–5 weeks gestation

Question 3

By what week is facial development almost complete?

Answer 3

By 10 weeks

Question 4

At what gestational age are facial features identifiable?

Answer 4

By 12 weeks

Question 5

Which ultrasound view is best suited for evaluating the intactness of the upper lip?

Answer 5

Coronal view

Question 6

What is the Binocular Distance (BOD)?

Answer 6

Outer to outer canthi

Question 7

What does Interocular Distance (IOD) measure?

Answer 7

Inner to inner canthi

Question 8

In a normal fetus, the Ocular Diameter is approximately equal to which measurement?

Answer 8

IOD

Question 9

What is hypertelorism?

Answer 9

Increased IOD > 95th percentile

Question 10

What conditions are associated with hypertelorism?

Answer 10

• Trisomy 13
• Trisomy 21
• Turner syndrome

Question 11

What is hypotelorism?

Answer 11

Decreased IOD < 5th percentile

Question 12

In which condition is hypotelorism commonly seen?

Answer 12

Holoprosencephaly

Question 13

What are some possible manifestations of holoprosencephaly?

Answer 13

• Cyclopia
• Cleft lip/palate
• Cebocephaly
• Ethmocephaly

Question 14

What is the prognosis for a fetus diagnosed with isolated hypertelorism?

Answer 14

Good outcome with potential for cosmetic correction

Question 15

What is the prognosis for a fetus diagnosed with hypotelorism as part of Trisomy 13?

Answer 15

Lethal condition

Question 16

What is anophthalmia?

Answer 16

Complete absence of eye(s)

Question 17

What is microphthalmia?

Answer 17

Abnormally small eyes

Question 18

What is the prognosis for a fetus diagnosed with isolated anophthalmia or microphthalmia?

Answer 18

Good outcome with potential for cosmetic and supportive care

Question 19

What does midface hypoplasia refer to?

Answer 19

Underdeveloped midface; depressed nasal bridge

Question 20

What is frontonasal dysplasia?

Answer 20

Defects of forehead, nose, eyes, often with hypertelorism

Question 21

What is a cephalocele?

Answer 21

Mass from skull defect

Question 22

What condition is characterized by premature skull suture fusion?

Answer 22

Clover-leaf Skull

Question 23

What is macroglossia?

Answer 23

Enlarged tongue

Question 24

In which conditions is micrognathia commonly seen?

Answer 24

• Pierre Robin sequence
• Treacher Collins syndrome
• Chromosomal anomalies

Question 25

What is the prognosis for a fetus with isolated micrognathia?

Answer 25

Good survival rate, but respiratory issues may occur at birth

Question 26

What imaging technique is used to assess fetal swallowing and breathing?

Answer 26

Color doppler

Question 27

What indicates absent nasal bone during first trimester screening?

Answer 27

Thin line = absent nasal bone

Question 28

Which chromosomal abnormality is most commonly associated with increased prenasal skin thickness in the second trimester?

Answer 28

Trisomy 21

Question 29

What is the most common facial defect occurring in 1 in 700 births?

Answer 29

Cleft lip and palate

Question 30

What causes cleft lip and palate?

Answer 30

Fusion failure of primary and secondary palate

Question 31

What are the types of cleft lip?

Answer 31

* Unilateral Incomplete * Unilateral Complete * Bilateral Complete

Question 32

Which imaging technique may assist in confirming a diagnosis of cleft palate?

Answer 32

Color Doppler

Question 33

What is hemifacial microsomia?

Answer 33

One side of face underdeveloped

Question 34

What syndrome is most commonly associated with hemifacial microsomia?

Answer 34

Goldenhar syndrome

Question 35

What is nuchal translucency (NT)?

Answer 35

thickness of the fluid-filled space at the back of a developing baby's neck during the first trimester of pregnancy, as seen during an ultrasound scan Measured between 11–14 weeks UP to 20 Weeks

Question 36

What measurement indicates abnormal nuchal thickness in the second trimester?

Answer 36

>5 mm (before 20 weeks)

Question 37

What is encephalocele?

Answer 37

Herniation of brain tissue

Question 38

What is the most common neck mass associated with lymphatic obstruction?

Answer 38

Cystic hygroma