The results of molecular cytogenetic study of spontaneous abortions and material non progressive pregnancies in the first trimester in 43 couples who were treated with various methods of ART are presented in this report. Chromosomal pathology (CP) was present in 28 (65 %) samples of chorionic villi. A comparative analysis of the frequency and types of CPs in groups, composed according to the pathological states in the semen of men was done.
View Article and Find Full Text PDFData about some male infertility genetic factors is presented and methods that can be used for its diagnostics are considered. Among genetic factors changes of the genetic apparatus at gene level (mutations), chromosome level (chromosomal aberrations), and total DNA (chromatin dispersion, DNA fragmentation) are pointed out. Beside standard cytogenetic diagnostic techniques, spermogram and DNA diagnostics, there are a number of molecular-cytogenetic methods (FISH, TUNEL, SCSA, SCGE, SCD).
View Article and Find Full Text PDFWe present the prenatally identified case of mosaicism of chromosome 16 trisomy. A patient with the pregnancy complicated in the first trimester by the threat of breaking was refered to the high risk group according to the results of the screening program. The ultrasonic research revealed a number of phenotypical pathologies in 19-weeks-old fetus such as congenital heart disease (ventricular septal defect), hyperechoic bowel, single umbilical artery and some other ones.
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