Thirty Years of Prenatal Cleft Diagnosis: What Have We Learned?

Prenatal ultrasound diagnosis of cleft lip with or without cleft palate has received little attention in the plastic surgery literature despite its initial description more than 30 years ago. With more families presenting in the prenatal period, it is critical for plastic surgeons to understand the techniques in use today for prenatal cleft diagnosis as well as their associated limitations. Moreover, it is incumbent on surgeons to understand the implications of the diagnosis as well as how to appropriately counsel affected families, including how to handle questions pertaining to termination. A comprehensive review was initiated to educate plastic surgeons with respect to these aims. The following points may be inferred: (1) Based on the rates of associated anomalies in low-risk screened populations, as opposed to the high-risk groups in previous reports, prenatally detected clefts do not appear intrinsically different from historically described cohorts; (2) in the absence of structural anomalies, chromosomal anomalies in prenatally detected cleft patients are rare; (3) ultrasound detection rates are highly variable across studies (10 percent to 90 percent); (4) reporting errors range from 10 percent to 60 percent and largely relate to characterization of the secondary palate; (5) accuracy is improving with the adoption of newer technologies, including three-dimensional ultrasound; and (6) prenatal diagnosis enables counseling and a sense of preparedness for the majority of affected families and only rarely results in termination for isolated clefts.