Cleft Lip and Palate Flashcards

1
Q

Describe the ultrasound findings associated with cleft lip and palate.

A

Coronal view - defect in lips
Axial view - defect in alveolar ridge
Use 3D
Best seen after 18 weeks

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2
Q

How do you counsel a patient if you identify cleft lip and palate on ultrasound?

A
  • excellent prognosis if isolated (60%)
  • poor prognosis if associated with other anomalies
  • associated with feeding, speech difficulties
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3
Q

What genetic conditions are associated with cleft lip and palate?

A

10% of cases are associated with genetic conditions namely:
T13
T18

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4
Q

What is the likelihood of associated anomalies in the setting of cleft lip and palate?

A

40%

Anomalies include:

  • Rocker bottom feet (T18)
  • Cardiac
  • Holoprosencephaly (T13)
  • Hypotelorism (T13)
  • Polyhydramnios (can’t swallow)
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5
Q

What additional evaluation do you perform if a cleft lip and palate is identified?

A
  • Detailed anatomic survey
  • Intermittent fetal growth
  • Fetal echocardiogram
  • amniocentesis
  • Pediatric surgeons (maxillofacial and ENT)
  • Antenatal NICU consultation
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6
Q

Do you offer amniocentesis for fetuses with a cleft lip and palate?

A

Yes because 10% are associated with aneuploidy namely T13 and T18

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7
Q

If you perform an amniocentesis what do you send the sample for?

A

FISH, Karyotype and reflex to CMA if normal

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8
Q

What is the likelihood of genetic abnormality in cleft lip/palate?

A

10% (especially T13)

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9
Q

What pregnancy complications can occur if the fetus has cleft lip and palate?

A
  • Polyhydramnios
  • Preterm contractions, preterm birth
  • Airway difficulty
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10
Q

What is the significance of a midline facial cleft?

A

This is because normal brain development induces frontonasal development; lack of normal brain development will increase risk of midline facial defect

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11
Q

What is the significance of a cleft palate without a cleft lip?

A

More likely in females than males

Harder to diagnose on ultrasound

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12
Q

What is the recurrence risk of cleft lip/cleft palate?

A

4%.

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13
Q

Type 1 cleft lip:

A

Defined as unilateral cleft lip (NO cleft palate)

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14
Q

Type 2 cleft lip:

A

Defined as unilateral cleft lip AND cleft palate

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15
Q

Type 3 cleft lip:

A

Defined as bilateral cleft lip AND cleft palate

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16
Q

Type 4 cleft lip:

A

Defined as midline cleft lip AND cleft palate

17
Q

Risk factors for cleft lip:

A
hyperthermia
 chronic steroids
methotrexate
alcohol
hydantoin
maternal rubella
phenylketonuria
folic acid deficiency
zinc deficiency