Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy
X-linked dominant chondrodysplasia punctata

Česká verze

Authors: P. Polák ¹; A. Baxová ²; A. Křepelová ³; M. Balák ⁴
Authors place of work: Centrum prenatální diagnostiky U. S. G. POL, s. r. o., Olomouc, ved. lékař MUDr. P. Polák, CSc. ¹; Ústav biologie a lékařské genetiky 1. LF UK a VFN, Praha, přednostka doc. MUDr. M. Kohoutová, CSc. ²; Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Praha, přednosta prof. MUDr. M. Macek Jr., DrSc. ³; MUDr. Martin Balák, s. r. o., soukromá gynekologická ambulance, Prostějov ⁴
Published in the journal: Ceska Gynekol 2014; 79(3): 193-197

Summary

Case report describes successful prenatal diagnosis of skeletal dysplasia in the first trimester of pregnancy in a female patient affected with X-linked dominat 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 established on the basis of ultrasonographic (US) examination and mutation analysis of the EBP gene in the material of chorionic villus sampling (CVS). Keywords: prenatal diagnosis, ultrasonograpy, X-linked dominant chondrodysplasia punctata, DNA analysis

Zdroje

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