Diagnosis of cleft lip is based on a physical exam of your baby's mouth. Cleft lip usually is obvious at birth because of distinctive facial characteristics. A baby with cleft lip should be examined carefully for the presence of other birth defects, such as cleft palate.

If cleft lip occurs with cleft palate, it is sometimes associated with another health condition, such as fetal alcohol syndrome or chromosomal disorders. For this reason, it is important for children to be evaluated for other conditions beginning at birth, especially if other symptoms are present, such as other facial deformities or learning disabilities.

Some children with cleft lip may need testing for complications, such as speech and hearing problems.

Early detection

Fetal ultrasound can sometimes detect cleft lip as early as 14 to 16 weeks of gestation. But fetal ultrasound is not reliable for this purpose. Cleft lip may go completely undetected or its appearance on the ultrasound may be misinterpreted.

Cleft lip or cleft palate can be passed down through families (inherited). If you have a family history of cleft lip or cleft palate, you may benefit from genetic counseling. A genetic counselor can help you understand your chances of having a child with a cleft lip or cleft palate.

Sometimes an inherited disease or condition causes a number of defects that includes cleft lip and/or cleft palate. If you have had a fetal ultrasound that shows your fetus is likely to have cleft lip and/or cleft palate along with other defects, you may decide to have genetic counseling along with amniocentesis or karyotype testing. These tests and genetic counseling can help you learn whether your fetus is likely to have a condition caused by chromosomes that aren't normal. Karyotype testing can also be done after your baby is born.