Cleft Lip and Palate Flashcards
Describe the ultrasound findings associated with cleft lip and palate.
Coronal view - defect in lips
Axial view - defect in alveolar ridge
Use 3D
Best seen after 18 weeks
How do you counsel a patient if you identify cleft lip and palate on ultrasound?
- excellent prognosis if isolated (60%)
- poor prognosis if associated with other anomalies
- associated with feeding, speech difficulties
What genetic conditions are associated with cleft lip and palate?
10% of cases are associated with genetic conditions namely:
T13
T18
What is the likelihood of associated anomalies in the setting of cleft lip and palate?
40%
Anomalies include:
- Rocker bottom feet (T18)
- Cardiac
- Holoprosencephaly (T13)
- Hypotelorism (T13)
- Polyhydramnios (can’t swallow)
What additional evaluation do you perform if a cleft lip and palate is identified?
- Detailed anatomic survey
- Intermittent fetal growth
- Fetal echocardiogram
- amniocentesis
- Pediatric surgeons (maxillofacial and ENT)
- Antenatal NICU consultation
Do you offer amniocentesis for fetuses with a cleft lip and palate?
Yes because 10% are associated with aneuploidy namely T13 and T18
If you perform an amniocentesis what do you send the sample for?
FISH, Karyotype and reflex to CMA if normal
What is the likelihood of genetic abnormality in cleft lip/palate?
10% (especially T13)
What pregnancy complications can occur if the fetus has cleft lip and palate?
- Polyhydramnios
- Preterm contractions, preterm birth
- Airway difficulty
What is the significance of a midline facial cleft?
This is because normal brain development induces frontonasal development; lack of normal brain development will increase risk of midline facial defect
What is the significance of a cleft palate without a cleft lip?
More likely in females than males
Harder to diagnose on ultrasound
What is the recurrence risk of cleft lip/cleft palate?
4%.
Type 1 cleft lip:
Defined as unilateral cleft lip (NO cleft palate)
Type 2 cleft lip:
Defined as unilateral cleft lip AND cleft palate
Type 3 cleft lip:
Defined as bilateral cleft lip AND cleft palate