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Tests and diagnosis
By Mayo Clinic staffMost cases of cleft lip and cleft palate are immediately apparent at birth and don't require special tests for diagnosis.
Ultrasound to diagnose cleft lip and cleft palate before birth
Increasingly, cleft lip and cleft palate are being diagnosed by ultrasound before the baby is born. An ultrasound is a test that uses sound waves to create pictures of the developing fetus. When analyzing the pictures, a doctor may detect an abnormality in the facial structures.
Cleft lip may be detected with ultrasound beginning around the 18th week of pregnancy. As the fetus continues developing, it may be easier to accurately diagnose a cleft lip. Cleft palate that occurs on its own is more difficult to diagnose using ultrasound, since it can be difficult to see inside the fetus' mouth.
If fetal ultrasound shows a cleft, your doctor may offer a procedure to take a sample of amniotic fluid from your uterus (amniocentesis). Analyzing the fluid may reveal abnormalities that indicate the fetus has inherited a genetic syndrome that can cause other birth defects. However, most often cleft lip and cleft palate occur on their own.
- Flint PW, et al. Cummings Otolaryngology: Head & Neck Surgery. 5th ed. Philadelphia, Pa.: Mosby Elsevier; 2010. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-0-323-05283-2..X0001-8--TOP&isbn=978-0-323-05283-2&uniqId=230100505-57. Accessed May 24, 2012.
- Kliegman RM, et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed May 24, 2012.
- Submucous clefts. Cleft Palate Foundation. http://www.cleftline.org/what-we-do/publications/fact-sheets/submucous-clefts/. Accessed May 25, 2012.
- Dixon MJ, et al. Cleft lip and palate: Understanding genetic and environmental influences. Nature Reviews Genetics. 2011;12:167.
- Wilkins-Haug L. Etiology, prenatal diagnosis, obstetrical management and recurrence of orofacial clefts. http://www.uptodate.com/index. Accessed May 29, 2012.
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