• Optimization of modern diagnosis of chromosomal abnormalities detected in couples with reproductive dysfunction

Optimization of modern diagnosis of chromosomal abnormalities detected in couples with reproductive dysfunction

HEALTH OF WOMAN. 2016.10(116):42–44 doi 10.15574/HW.2016.116.42 
 

Optimization of modern diagnosis of chromosomal abnormalities detected in couples with reproductive dysfunction


Dariy A. S., Stepanov A. A., Denisenko S. V.

Clinic problems of family planning, Kiev


The objective: To define the percentage of molecular-cytogenetic methods in chromosomal anomalies diagnosis among the couples who had visited Human Reproduction Problems Clinic. To define the algoritm of pregravidate service of couples using the molecular-cytogenetic results.


Patients and methods. Сytogenetic analysis was performed for 1812 couples (3624 patients) who visited Human Reproduction Problems Clinic. Molecular-cytogenetic analysis was performed for 426 patients.


Results. Molecular-cytogenetic methods were used in 11.75% cases. Mostly (in 78.2% cases) it was used for knowing the correlation between normal and abnormal clones in karyotype. Also it was used for identification of balanced translocations breakpoints (in 15.8% cases) and for identification of marker chromosomes (2.9% cases).


Conclusions. Our results demonstrate effectiveness of molecular-cytogenetic methods for genome and chromosomal mutations analysis among couples with reproductive problems. The results were taken in account during pregravidate service of couples with reproductive problems. Knowing of genetic mechanisms of reproductive failure is importing for preconception examination.


Key words: infertility, pregravidate service, chromosomal pathology, genome mutations, mosaicism, molecular-cytogenetic methods.


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