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Craniofacial anomalies (CFA). Cleft lip and/or cleft palate

The most common craniofacial anomaly in newborns is the orofacial cleft which consists of a cleft lip (cleft or separation on the upper lip) with or without a cleft palate. It can happen as part of a syndrome that involves multiple other organs or as an isolated deformity.

A cleft lip and palate can:

  • Affect the appearance of the face
  • Lead to problems with feeding and speech
  • Lead to ear infections

Risk factors are, among others, a family history of a cleft lip and palate or other congenital birth defects. Approximately 1 person in every 2500 suffers from cleft palate.

Prevention

Both genetic as well as environmental factors influence the development of orofacial clefts. Prevention methods include:

  • Stop taking medicines associated with this anomaly
  • Quit smoking and limit alcohol intake
  • Avoid folate deficiency in the diet or take supplements

Amniocentesis for karyotype (early diagnosis) should be offered to those women whose ultrasounds show fetal orofacial clefts and the associated anomalies due to the high rate of defective chromosomes.

Gene or region studied

  • 1q32.2
  • 8q24.21
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