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Cleft Lip and Palate - Prenatal Diagnosis and Counselling

Publication at Central Library of Charles University, First Faculty of Medicine |
1998

Abstract

The most frequent congenital developmental defect in the orofacial region are, no doubt, facial clefts which are a serious stress for health professionals and the population. Depending on the type of cleft, the prevalence is between 1 : 1000-2800 births.

According to contemporary views in the etiology of orofacial clefts participate genetic as well as environmental factors. That means that specific genetic factors create a certain "sensitivity" for specific factors of the external environment which act as a trigger mechanism and combined they produce the cleft.

Cleft lip can be diagnosed already during the 13th week of gestation, while a cleft palate is not necessarily apparent till after the 18th week of gestation as the maxilla is in the process of joining. Presentation of the foetal face and its profile is thus important in particular during the second trimester of gestation and should be part of ultrasonographic screening between the 18th and 20th week of gestation.

As more than 8% of facial clefts are associated with chromosomal abnormalities, in all affected foetuses karyotyping is done. The prognosis of satisfactory cosmetic and functional repair in cleft lip and in cleft lip and palate is favourable.

In case of associated malformations all depends on the type and severity of these associated defects or on the diagnosis of the syndrome. If median clefts are extensive or associated with cerebral anomalies, the prognosis is as a rule poor.

Prenatal diagnosis and management of defects of the orofacial area calls for collaboration of the obstetrician, neonatologist and plastic surgeon already in the stage when the defect is detected to give the expectant mother an opportunity to obtain accurate and unbiased information on possible treatment and prognosis for the foetus.