An orofacial cleft, which is a cleft lip with or without a cleft palate (CL/P) or isolated cleft palate (CP), is the most common craniofacial malformation in newborns. This condition can occur as part of a syndrome, which involves other organs, or as a separate, isolated malformation.
Medical studies suggest that about 70 percent of CL/P and 50 percent of CP do not correlate with a syndrome. Although these conditions may seem similar, CL/P and CP are different in embryology, etiology, candidate genes, associated abnormalities and recurrence risk.
It is necessary for fetuses with orofacial clefts to undergo a careful assessment for any additional structural abnormalities, since these defects are seen in as many as 50 percent of newborns with isolated CP, 20 percent of newborns with CL and CP, and 8 percent of newborns with isolated CL.
Recommendations for pregnant women shown to have a fetus with orofacial clefts:
- A fetal echocardiogram is recommended, which is a test to see the structure and function of the fetus’ heart.
- Amniocentesis for karyotype should also be considered to determine if there are any associated chromosomal defects. Fortunately, with isolated CL/P and CP, the likelihood of a genetic abnormality is low.
If the woman undergoes this testing, many professionals recommend that a CGH microarray should be sent to detect genetic syndromes that were not diagnosed with a routine karyotype. With genetic amniocentesis, women are informed of an approximate 1/500 risk of pregnancy loss.
In the setting of a suspected orofacial cleft, patients may be referred to a pediatric plastic surgeon for after birth surgical correction. Fortunately, most cosmetic outcomes are excellent.
Carnegie Imaging for Women blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!