ABSTRACT
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. The recommendations to improve the efficiency of ART were developed based on the data.
Subject(s)
Abortion, Spontaneous/genetics , Aneuploidy , Asthenozoospermia/genetics , Chorionic Villi/pathology , Reproductive Techniques, Assisted , Semen/cytology , Stillbirth/genetics , Abortion, Spontaneous/pathology , Adult , Aged , Asthenozoospermia/pathology , Chorionic Villi Sampling , Female , Humans , Karyotyping , Male , Middle Aged , Pregnancy , Pregnancy Trimester, First , Semen AnalysisABSTRACT
Data 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). Profound studying of infertile men sperm at several levels of the genetic material organization will allow to estimate the informativity of each method separately and in a complex, and also to develop optimal algorithm for diagnostics performance with the aim of selection of the most effective treatment for male infertility.
Subject(s)
Infertility, Male/genetics , Spermatogenesis/genetics , Apoptosis/genetics , Chromosome Aberrations , DNA/genetics , DNA Fragmentation , Genetic Testing , Humans , Infertility, Male/pathology , Male , Spermatozoa/metabolism , Spermatozoa/pathologyABSTRACT
We 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. Cytogenetical and FISH analyses of the placental villi revealed karyotype with chromosome 16 trisomy. The further research of amniotic fluid cells revealed the karyotype of fetus as mos47,XX,+16 / 46,XX. The pathologoanatomic research of the abortus has verified the multiple congenital malformations.
