Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy X-linked dominant chondrodysplasia punctata
2014
Abstract
Case report describes successful prenatal diagnosis of skeletal dysplasia in the first trimester of pregnancy in a female patient affected with x-linked dominant chondrodysplasia punctata (CDPX2). Her first pregnancy was terminated in the second trimester due to skeletal dysplasia of the foetus.
The diagnosis in the following pregnancy was finished in the first trimester - before the end of the 13th gestational week. The diagnosis was estabilished on the basis of ultrasonographic (US) examination and mutation analysis of the EBP gene in the material of chorionic villus sampling (CVS).