Osteogenesis imperecta - A genetikai tanacsadas es a magzati diagnosztika lehetosegei

Translated title of the contribution: Osteogenesis imperfecta - Genetic counselling and prenatal diagnosis

A. Ujhazy, L. Csabay, C. Papp, T. Tóth

Research output: Contribution to journalArticle

Abstract

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.

Original languageHungarian
Pages (from-to)612-618
Number of pages7
JournalLege Artis Medicinae
Volume7
Issue number10
Publication statusPublished - 1997

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Osteogenesis Imperfecta
Genetic Counseling
Prenatal Diagnosis
Inheritance Patterns
Recurrence
Conduction Anesthesia
Pedigree
Cesarean Section
Molecular Biology
Autopsy
Fetus
Parents
Mothers
Pregnancy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Osteogenesis imperecta - A genetikai tanacsadas es a magzati diagnosztika lehetosegei. / Ujhazy, A.; Csabay, L.; Papp, C.; Tóth, T.

In: Lege Artis Medicinae, Vol. 7, No. 10, 1997, p. 612-618.

Research output: Contribution to journalArticle

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