Two-dimensional ultrasound is accurate in the diagnosis of fetal craniofacial malformation

To assess the accuracy of antenatal ultrasound in the diagnosis of craniofacial malformations and to compare two-dimensional with three-dimensional ultrasound.

This was a retrospective study in which the archives of our ultrasound laboratory were searched for cases with an ultrasound diagnosis of craniofacial malformation in the period 1986-2001. No attempt was made to look for false-negative diagnoses.

Sixty cases with an antenatal diagnosis of a craniofacial malformation were found: 37 with cleft lip/palate; 17 with heterogeneous dysmorphisms (including mostly micrognathia and craniosynostosis) and 6 with miscellaneous craniofacial malformations. Associated anomalies were present in 48/60 (80%) cases, and holoprosencephaly (25 cases) was the most frequent of these. In 43 (72%) cases the diagnosis was made before 24 weeks' gestation. Postnatal follow-up was available for 43 cases and there was always complete correlation between antenatal and postnatal diagnoses. Cleft lip/palate was always accurately differentiated from cleft lip. Three-dimensional ultrasound was performed in 12 cases and was successful in 11. However, it did not provide further diagnostic information with regard to the two-dimensional scan.

Current two-dimensional ultrasound in expert hands allows an accurate diagnosis of craniofacial abnormalities from early gestation. In our hands, three-dimensional ultrasound did not add any valuable diagnostic information. Three-dimensional ultrasound may facilitate the understanding of the lesion by the parents and facilitate communication with the plastic surgeons. However, these potential benefits need to be carefully weighed against the costs of the ultrasound instrumentation, increased examination time and training of personnel.