不同指征患者胚胎植入前非整倍体筛查的比较

Comparison of aneuploidy screening before embryo implantation in patients with different indications

目的通过对进行植入前遗传学筛查(PGS)患者的胚胎和染色体结果分析,比较不同PGS指征在胚胎染色体非整倍体的差异。方法收集2018年6月1日至2018年11月30日在西北妇女儿童医院生殖中心行PGS患者288例,胚胎培养囊胚期活检,PGS检测采用多次退火环状循环扩增技术-二代测序技术(MALBAC-NGS),比较不同年龄段、不同性别患者和不同PGS指征胚胎染色体非整倍体率。结果①PGS共活检288枚胚胎,最终有效检出结果的胚胎数为275枚。其中整倍体胚胎数目为141(51.27%),非整倍体胚胎数目为134(48.73%)。②在染色体异常的胚胎中以异常染色体数目为1条(42.54%)和2条(37.31%)最为常见。染色体异常的女性患者产生非整倍体胚胎数目为43个(59.72%),染色体异常的男性患者产生非整倍体胚胎数目为59个(49.17%),不同性别患者的整倍体率与非整倍体率比较无统计学差异(χ^2=2.01,P>0.05)。③随着女方年龄的增长,胚胎非整倍体率逐渐升高,≤27岁、28~30岁、31~33岁、34~36岁和≥37岁患者非整倍体胚胎数目分别为34个(43.04%)、43个(52.44%)、37个(59.68%)、10个(32.26%)、12个(57.14%)。然而,不同年龄女性患者的胚胎整倍体率与非整倍体率比较无统计学差异(χ^2=8.35,P>0.05)。④在不同PGS指征中,以相互易位(36.84%)和复发性流产(RSA,占18.60%)最为常见。相互易位、罗氏易位、倒位、非整倍体及衍生染色体患者产生的非整倍体胚胎数目分别为71个(67.72%)、8个(40.00%)、2个(66.67%)、11个(42.31%)和7个(77.78%);不良孕产史、反复种植失败、RSA患者产生的非整倍体胚胎数目分别为11个(39.29%)、2个(22.22%)、24个(45.28%);不同PGS指征患者的整倍体率与非整倍体率比较具有统计学差异(χ^2=23.94,P<0.05)。⑤胚胎染色体异常中11、13、14、22号染色体及性染色体异常发生率较高(分别占9.19%、10.95%、6.71%、6.01%、8.83%)。结论通过对PGS患者的染色体结果分析得出,随着年龄的增长,胚胎非整倍体率逐渐升高。在不同PGS指征中,以相互易位和RSA最为常见。平衡易位、倒位、衍生染色体等双亲染色体异常可能更易导致胚胎染色体非整倍体。染色体异常的胚胎中以异常染色体数目为1条和2条最为常见。染色体异常的女性患者胚胎非整倍体率较高。

Objective Embryo and chromosome results of preimplantation genetic screening(PGS) patients were analyzed to compare the differences of different PGS indications in chromosome aneuploidy in embryos.Methods From June 1,2018 to November 30,2018,288 patients were enrolled undergoing PGS in the Northwest Women and Children’s Hospital Reproductive Center.The embryo culture blastocysts biopsy,PGS ring test several times with annealing cycle amplification technolog-the second generation sequencing technology(MALBAC-NGS).Comparing embryo chromosome aneuploidy rate among patients with different ages,different gender and different PGS indications.Results A total of 288 embryo biopsy,including 141(51.27%) cases of euploid embryo and 134(48.73%) cases of aneuploidy embryo.It was the most common that one(42.54%) and two(37.31%) of abnormal chromosome number in chromosome abnormal embryo.The number of aneuploidy embryo in female patients with chromosomal abnormalities was 43(59.72%),and 59(49.17%) for male patients with chromosomal abnormalities,gender was not statistically different between euploid and aneuploidy(χ^2=2.01,P>0.05).The number of aneuploidy embryo were 34(43.04%),43(52.44%),37(59.68%),10(32.26%),and 12(57.14%) in female patients with ≤27,28-30 31-33,34-36 and ≥37 groups respectively,age was not statistically different between euploid and aneuploidy(χ^2=8.35,P>0.05).Mutual translocation(36.84%) and recurrent miscarriage(18.60%) were the most common among the different PGS indications.The number of aneuploidy embryo were 11(45.16%)、2(22.22)、24(45.28%)in patients with adverse pregnancy history,recurrent implantation failure,and recurrent spontaneous abortion respectively;71(67.72%)、8(40.00%)、2(66.67%)、11(42.31%)and 7(77.78%)for patients with balance translocation,roche translocation,inversion,aneuploidy,and derived chromosome.Different indications were statistically different between euploid and aneuploidy groups(χ^2=23.94,P<0.05).The incidence of chromosome 11,13,14,22 and sex chromosome abnormalities was higher(9.19%,10.95%,6.71%,6.01% and 8.83%,respectively).Conclusion By analyzing the results form PGS patients in our hospital,the aneuploidy rate was gradually increasing as the age increasing.It was the most common that mutual translocation and recurrent miscarriage among the different PGS indications.It may be more likely to cause embryo chromosome abnormal when balanced translocation,inversion,derivation of chromosomes happened on parents.It was the most common that one and two of abnormal chromosome number in chromosome abnormal embryo.The aneuploidy rates were higher in female patients with abnormal chromosome.