Abnormal Embryo Distribution And Clinical Pregnancy Outcome Analysis After PGT Assisted Pregnancy In Women With 47,XXX Syndrome

Background 47,XXX syndrome is also known as "Superfemale syndrome",the probability of the occurrence of newborn girls is about 1/1000.Most studies believe that normal reproduction is possible.The extra X chromosome will be preferentially isolated into the first polar body,resulting in a low proportion of abnormal embryos.So many experts do not recommend preimplantation genetic testing(PGT).However,some studies have suggested that PGT is also of some value as it is associated with decreased ovarian function and recurrent abortion,and the proportion of abnormal oocytes and embryos increases.Objective This study mainly discusses the proportion of abnormal embryos with sexual chromosome and pregnancy outcomes after PGT assisted pregnancy in women with 47,XXX syndrome,so as to prove whether PGT is more beneficial for such patients,or just to use conventional assisted reproductive technology.The most suitable genetic counseling is given to women with superfemale syndrome.Methods From 2012 to 2019,49 cases of superfemale syndrome women were admitted to our hospital for seeking assisted reproductive technology to pregnancy,among which 6 cases had incomplete basic data.Only 43 cases of 47,XXX women were analyzed for their general condition and previous pregnancy status.Among the 49 cases,15 cases failed PGT due to low number of eggs or poor quality of embryos,and 7 cases did not go to the doctor after genetic counseling.The remaining 27 cases received PGT assisted pregnancy,18 cases received FISH test,and 9 cases received Array-CGIH/NGS test,to summarize and analyze the abnormal status of embryo chromosome and the pregnancy outcome of transplantation in 27 cases with superfemale syndrome women.Outcomes1.The average age of the 43 cases of superfemale syndrome women was 29.86±3.21,and the average FSH was 9.51±7.59,among which 13 cases(the average FSH was 15.41±11.75)were FSH?10IU/L,accounting for 30.23%of the total.2.Among the 21 cases superfemale syndrome women with secondary infertility who had 35 pregnancies,45.71%had missed abortion and 11.43%had live birth.3.There were no statistically significant differences in age,body mass index(BMI),FSH,AMH,number of eggs harvested,number of injected MII,number of 2PN cells,number of cleavage,number of high quality embryos on day 3,superior embryo rate on day 3 and superior embryo rate on day 5 of 47,XXX women by the two methods(FISH and Array-CGH/NGS).4.74(84.09%)embryos had the normal number of sex chromosomes and 14(15.91%)embryos had the abnormal number of sex chromosomes among the 88 embryos that were definitively diagnosed by FISH.The number of sex chromosomes in 26 embryos detected by Array-CGH/NGS method was normal,including 18(69.23%)embryos with normal genome,5(19.23%)aneuploid embryos,and 3(11.54%)mosaic embryos.There was no statistical difference in abnormal embryo rate and aneuploid embryo rate between the two methods(P=0.092,P=0.920).Another 2 embryos were detected by FISH and then by Array-CGH/NGS method,and the number of sex chromosomes was both normal.Among 116 embryos,14(12%)embryos had abnormal sex chromosome.5.FISH method:a total of 37 embryos were transplanted in 26 transplantation cycles,with clinical pregnancy rate of 53.85%,live birth rate of 38.46%,and 11 newborns(6 females and 5 males).Array-CGH/NGS method:a total of 12 embryos were transplanted in 12 transplantation cycles,with embryo implantation rate of 66.67%,clinical pregnancy rate of 66.67%,live birth rate of transplantation of 50%,and 6 newborns(2 females and 4 males).There was no significant difference in the clinical pregnancy rate and delivery rate between the two methods(P=0.696,P=0.658).Conclusions The proportion of female embryos with sex chromosome abnormality in 47,XXX syndrome is low,which has limited influence on the pregnancy outcome.In principle,conventional assisted reproductive technology or PGT can be selected.Considering the high incidence of ovarian function decline and early abortion in this group,the application of PGT still has certain value,and the method of Array-CGH/NGS is preferred.Later,the sample size should be enlarged,and it is more meaningful to compare and analyze the pregnancy outcomes after conventional assisted reproductive technology and PGT technology.