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Prenatal diagnosis: evolution in craniofacial surgery
F S De Ponte1, D J Bottini, E Maggi
1Maxillofacial Unit, La Sapienza University of Rome, Italy.
Insights
Prenatal diagnosis of craniomaxillofacial malformations like cleft lip and palate (CLP) enables timely surgical intervention for optimal outcomes. Early detection aids informed parental decisions and surgical planning.
Area of Science:
- Medical imaging
- Embryology
- Pediatric surgery
Background:
- Advances in embryology enhance diagnosis and classification of craniomaxillofacial anomalies.
- Prenatal diagnosis allows for timely surgical planning, aiming for improved aesthetic and functional results.
Observation:
- Ultrasonography diagnosed cleft lip and palate (CLP), isolated or with other anomalies, in nine pregnancies.
- One case involved a fetus with CLP and micrognathia, successfully operated on within 6 months.
Findings:
- Early prenatal diagnosis of CLP facilitated informed parental choices regarding pregnancy continuation.
- Successful surgical correction was achieved for an infant diagnosed prenatally with CLP.
Implications:
- Prenatal diagnosis of craniomaxillofacial malformations is crucial for early intervention and improved patient outcomes.
- Knowledge of embryology is vital for accurate diagnosis and effective therapeutic strategies.
- Informed parental counseling is a key component following prenatal diagnosis of congenital anomalies.
Abstract:
Prenatal diagnosis of craniomaxillofacial malformations permits early surgery, before 6 months of life and possibly, in the near future, in utero, thereby obtaining the best aesthetic and functional results. Increased knowledge of embryology has largely improved the diagnosis of craniomaxillofacial anomalies, their classification, and therapeutic protocols. We analyzed nine pregnancies (one twin) in which cleft lip and palate (CLP)--isolated or associated with, for example, holoprosencephaly, hypertelorism, and micrognathia--was diagnosed by ultrasonography. Only one fetus of these pregnancies was later operated on in our unit. This patient, with 7 years follow-up, represents our clinical case. For these cases, early diagnosis of CLP allowed informed parental choice regarding the continuation or termination of the affected pregnancy and planning of surgical procedures to correct the malformation. This is demonstrated by the presented clinical case involving an infant operated on within 6 months with success.