Cytogenetic Screening And Reproductive Guidance For Patients With Genetic Counseling

Objectives:Do chromosomal karyotype screening and cytogenetic etiology analysis for the patients with genetic counseling.Combined with their medical history and the latest progress of genetic research,help for their genetic counseling and rebirth guidance.Methods:Choose between January 2019 and December 2020,because of infertility,recurrent abortion and assisted reproductive failure patients with reproductive problems and attendance,collected the clinical data,develop peripheral blood chromosome karyotype detection,in 320-400 banding karyotype analysis,combined with clinical data,statistical analysis of peripheral blood karyotype analysis results.According to the results of chromosome karyotype analysis and etiology analysis,provide genetic counseling and refertility guidance.Results:Among the 3814 patients,214 cases had one or more abnormal chromosomal karyotypes in peripheral blood,accounting for 5.61%of the total detected chromosomal abnormalities.Among the abnormal cases,the number and structure of sex chromosomes were abnormal in 76 cases,accounting for 35.51%of the total;72 cases(33.64%)had abnormal autosome number and structure;74 cases(34.58%)had chromosome polymorphism.Sexual chromosome abnormality included 66 cases of abnormal number of sex chromosomes,including 13 cases of Turner syndrome,1 case of 47,XXX syndrome,1 case of 47,XYY syndrome,51 cases of Klinefelter syndrome;4 cases of abnormal sexual differentiation,including 2 cases of XX male syndrome and 2 cases of XY female syndrome;there were 11 cases of abnormal sex chromosome structure,including duplication,deletion,equiarm and balanced translocation.Autosomal abnormalities included 12 cases of abnormal number of autosomes,3 cases of trisomy and 9 cases of Robertson translocation;chromosome balanced translocation occurred in 28 cases,and some translocations occurred between sex chromosomes;29 cases of autosomal fragment inversion;other abnormal autosomal structures were found in 4 cases,including insertion,fragment increase and chromosome derivation.Chromosome polymorphism included:25 cases of secondary constriction or chromosome negative site variation;34 cases with variation in the body region;4 cases with large Y chromosome;11 cases of small Y chromosome.Conclusions:There is a certain proportion of chromosome abnormality in patients with genetic counseling,which is often related to infertility,adverse pregnancy and sexual development abnormality.Early detection and early treatment are particularly important for improving the prognosis of patients with chromosomal abnormalities.For patients with possible gamete abnormalities and recurrent pregnancy loss or birth abnormalities,preimplantation genetic diagnosis or prenatal fetal chromosomal karyotype analysis can be used to screen out the fetus with normal chromosomes and help patients obtain their own normal offspring.