Antenatal Diagnosis of Orofacial Clefts

Source: Russell KA, Allen VM, MacDonald ME, et al. A population-based evaluation of antenatal diagnosis of orofacial clefts. Cleft Palate-Craniofacial J. 2008:45(2):148–153; doi:10.1597/06-202.1Researchers from Dalhousie University, Nova Scotia, Canada performed a retrospective analysis to answer the question of whether antenatal diagnosis of facial clefting is more common now than it was in the 1990s when it was first reported.1Taking advantage of several regional data bases, the group conducted a population-based study assessing the prevalence of cleft lip, cleft palate, and orofacial clefts with associated anomalies among infants born in Nova Scotia between 1992 and 2002. The rates of antenatal diagnosis of clefting among the cohort born in 1992–1996 and those born in 1997–2002 were compared.During the 11-year period, 225 cases of clefting were identified in 108,220 births (2.1 per 1,000 births). The prevalence of clefting remained stable throughout the period. The overall antenatal detection of cleft lip with or without cleft palate was 23%. In the early cohort, the antenatal diagnosis rate was 14% and in the later cohort it was 30% (P=.03). No case of isolated cleft palate (cleft velum) was diagnosed antenatally. About one-third of cleft lip with or without cleft palate patients had associated anomalies and about 10% had identifiable chromosomal abnormalities.In addition to the overall increasing frequency of antenatal diagnosis of clefting, the authors note that antenatal diagnosis is more common in those with other major anomalies, reflecting the increased chance that once a major anomaly is found, clefting is detected. In the study population detection of isolated cleft lip/palate did not result in the termination of any pregnancy.Dr. Corcoran has disclosed no financial relationship relevant to this commentary. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.Since the early 1990s, quaternary referral centers in the UK and elsewhere have been reporting high incidences of antenatal diagnosis of orofacial clefting—cleft lip with or without cleft palate.2,3Initially, this trend reflected the use of high-resolution ultrasound. More recently, two-dimensional second trimester ultrasound has become more routine and ultrasonographers are more sophisticated, increasing the number of antenatal diagnoses of isolated cleft lip with or without cleft palate. Because of the lack of difference ultrasonically of the tongue musculature and velar musculature, clefts of the soft palate are unlikely to be diagnosed antenatally. Screening of the bony roof of the mouth is difficult with 2-D imaging but is possible with 3-D imaging. The lip is developing at 5–7 weeks and the palate at 6–8 weeks. Typical second trimester ultrasound checklists include mention of the nose and lip.My practice reflects the experience of the group in Nova Scotia. With more frequent antenatal diagnosis of clefting, parents are obtaining counseling about cleft care. Approximately 35% of my cleft lip/palate cases start with antenatal counseling. Most of these fetuses have isolated cleft lip/palate. Parents are sophisticated advocates for their fetus and will search out the cleft team.In addition to seeking reassurance that someone can help reconstruct the cleft, they want advice about feeding and caring for the infant. As these diagnoses are made more frequently, the pediatrician should be aware that antenatal counseling can be helpful.

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