Osteogenesis imperfecta is one of the most common skeletal dysplasias. The clinical manifestation and the prognosis are wildly different depending on the four types of the disease. Since these types of osteogenesis imperfecta are homogeneous within a family, it is possible to determine the inheritance patterns for the disease and to counsel patients on the risk of recurrence using the pedigree, the diagnostic examinations of previous pregnancies such as ultrasound and radiographs and the post-mortem examination of the affected infants. In case of parents at high risk of delivering an affected infant, prenatal diagnostic examinations are necessary. With the ultrasound examination the diagnosis of osteogenesis imperfecta type II. can be made before the 20th gestational week. In the detection of the types I., III. and IV. ultrasound is not a reliable method. The diagnosis of these types can be performed by molecular genetic methods. If a fetus is affected, the decision on the mode of delivery depends on the type and the prognosis of the disease. If the mother is affected, the recommendation is cesarean section during regional anesthesia. Detailed post-mortem pathological and radiological examination is necessary to confirm the diagnosis and to determine the inheritance pattern and the recurrence risk of each particular case.
|Translated title of the contribution||Osteogenesis imperfecta - Genetic counselling and prenatal diagnosis|
|Number of pages||7|
|Journal||Lege Artis Medicinae|
|Publication status||Published - Nov 20 1997|
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