Real possibilities of prenatal diagnosis of translocation form Down’s syndrome

Abstract

Objective: analyses of real possibilities of prenatal diagnosis of translocation form Down’s syndrome. Materials: 243 cases of Down's syndrome were diagnosed within 15 years, translocation variant of trisomy 21 was found in 5 cases (2 %). The article provides the analyses of the results of prenatal examination of the fetuses with the translocation form of Down's syndrome. Results: in all 5 cases abnormal biochemical screening and ultrasound markers of chromosomal abnormalities were recorded. Prenatal karyotyping was carried out in one observation. In 4 cases cytogenetic diagnosis was performed postnatally. The perinatal outcome is known in all the observations. Conclusion: Prenatal diagnosis of the translocation form of Down's syndrome is possible in most cases, provided that the screening time of the examination of pregnant women is met and the indications for an expert ultrasound evaluation of the fetus using the latest technology are broadened