Anomaliile cromozomiale şi defectele orodentare – diagnosticul prenatal

Genetic disorders can be classified as single gene inhe­ri­tance, multifactorial inheritance, chromosome ab­nor­ma­li­ties and mitochondrial inheritance. Every congenital struc­tural defect in the body represents an inborn error in morphogenesis and may affect one or more systems. Cur­rently, craniofacial abnormalities can be detected by mo­dern ultrasound examination as early as at 16 weeks of ges­ta­tion. Several chromosomal disorders, numerical and struc­tu­ral as well, include oro-dental defects among their cli­ni­cal symptomatology. The severity of these disorders vary widely from extremely severe to mild, but oral defects are present in all. Chromosomal disorders and syndromes often arise from numerical and structural defects of the chro­mo­somes, leading to various manifestations, some of which also include the craniofacial region. Genetics and its understanding and applications enhance our abi­li­ty to understand the growth and development of cra­nio­fa­cial structures, leading to the early intervention and pre­ven­tion of disease onset. Knowledge of the genetic al­te­ra­tions that may cause oro-dental defects allows the ge­ne­tic examination, the prenatal diagnosis and counselling of future parents with traits of oral cleft in the family.