Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2022, Vol. 18 ›› Issue (06): 652 -659. doi: 10.3877/cma.j.issn.1673-5250.2022.06.006

Original Article

Analysis of influencing factors on results of embryo preimplantation genetic testing for chromosome structural rearrangement in chromosomal reciprocal translocation carriers

Jun Wang, Zhenqiang Zhang, Xiyi Wang, Xingqing Gou, Yuping He()   

  1. Center for Reproductive Medicine, Department of Gynecology & Obsterics, Tangdu Hospital of Air Force Medical University, Xi′an 710038, Shaanxi Province, China
  • Received:2022-08-12 Revised:2022-11-10 Published:2022-12-01
  • Corresponding author: Yuping He
  • Supported by:
    General Project of Key Research and Development Program of Shaanxi Provincial Department of Science and Technology(2021SF-012)
Objective

To investigate the effects of one of the couples′ (parents) chromosomal reciprocal translocation carrier types on blastocyst chromosomal abnormalities.

Methods

From June 2018 to June 2021, a total of 1 091 blastocysts of 231 couples (one of the couple was carrier of chromosomal reciprocal translocation) who were assisted pregnancy by assisted reproductive technology (ART) in Tangdu Hospital of Air Force Medical University, and took embryo preimplantation genetic testing-chromosomal structural rearrangements (PGT-SR) were selected as research subjects. The clinical case data of the parents and their blastocyst PGT-SR results were retrospectively analyzed. Independent-samples t test and chi-square test were used to compare the clinical data of the parents (chromosomal reciprocal translocation carriers) between whose blastocysts with PGT-SR results of chromosomal abnormalities and normal (univariate analysis). The influencing factors on PGT-SR results of blastocysts of chromosomal translocation carriers were analyzed by multivariate unconditional logistic regression analysis. This study was approved by Ethics Committee of Tangdu Hospital of Air Force Medical University (Approval No. K202108-09). The guardians of the subjects signed the informed consents for embryo PGT-SR.

Results

① Univariate analysis of influencing factors on PGT-SR results of blastocysts of chromosomal translocation carriers showed that: the chromosomal translocation carriers′ proportion of parents with chromosome abnormal blastocysts whose ratio of the longest to the shortest translocated segments (TSR) ≥2 and chromosomal translocation fragment contained terminal breakpoint (76.8%, 38.0%) were higher than those with chromosome normal blastocysts (68.7%, 29.1%), and the differences were statistically significant (χ2=7.67, 7.91; P=0.006, 0.005). ② Multivariate unconditional logistic regression analysis showed that: female carriers of chromosomal translocation (OR=1.39, 95%CI: 1.05-1.85, P=0.021), TSR ≥2 (OR=1.48, 95%CI: 1.13-1.94, P=0.005), and chromosomal translocation fragments containing terminal breakpoints (OR=1.50, 95%CI: 1.13-2.00, P=0.005) all were independent risk factors for PGT-SR results of chromosomal abnormalities in blastocyst of chromosomal translocation carriers. ③There were significant differences in constituent ratio of blastocyst PGT-SR results (normal chromosome copy number, abnormal translocation chromosome, other chromosomal abnormalities) between TSR≥2 and TSR<2, between chromosomal translocation segments containing terminal breakpoints and translocation segments without terminal breakpoints (P<0.05).

Conclusions

For chromosomal translocation carriers of female, TSR≥2 and chromosomal translocation fragments containing terminal breakpoints, the risk of their blastocysts with chromosome abnormalities is higher. Embryo PGT-SR is recommended during ART to assist pregnancy, and adequate genetic counseling is required.

表1 囊胚PGT-SR结果为染色体异常与正常囊胚的亲代(染色体相互易位携带者)临床资料比较
囊胚PGT-SR结果 囊胚数(枚) 女性年龄(岁,±s) 男性年龄(岁,±s) 女性BMI(kg/m2±s) 不孕年限(年,±s) 血清基础FSH水平(mIU/mL,±s) 血清基础LH水平(mIU/mL,±s) 血清基础雌二醇水平(pg/mL,±s) 血清AMH水平(ng/mL,±s)
染色体异常 771 30.0±3.0 31.7±3.4 21.9±3.2 2.3±2.1 6.1±1.3 6.0±2.8 46.5±32.2 4.3±2.5
染色体正常 320 30.1±2.8 31.9±3.3 22.3±3.0 2.4±2.4 6.1±1.3 6.0±2.6 45.0±22.4 4.3±2.2
统计量 t=1.80 t=0.98 t=1.68 t=1.03 t=-0.25 t=-0.23 t=-0.18 t=-0.12
P 0.058 0.330 0.094 0.304 0.801 0.817 0.829 0.906
囊胚PGT-SR结果 囊胚数(枚) 不孕类型[枚数(%)] 不孕原因[枚数(%)] 卵巢刺激方案[枚数(%)] Gn使用量(IU,±s) Gn使用时间(d,±s)
原发性 继发性 单纯染色体因素 合并其他因素 GnRH长方案 GnRH拮抗剂方案
染色体异常 771 209(27.1) 562(72.9) 552(71.6) 219(28.4) 622(80.7) 149(19.3) 1 958±979 11.3±1.7
染色体正常 320 79(24.7) 241(75.3) 225(70.3) 95(29.7) 257(80.3) 63(19.7) 2 009±988 11.4±1.7
统计量 χ2=0.68 χ2=0.18 χ2=0.02 t=0.77 t=1.10
P 0.409 0.670 0.891 0.442 0.271
囊胚PGT-SR结果 囊胚数(枚) 获卵数(枚,±s) 成熟卵子数(枚,±s) 正常受精数(枚,±s) 囊胚形成数(枚,±s) 易位携带者性别[枚数(%)] 易位是否涉及近端着丝粒染色体[枚数(%)]
男性 女性
染色体异常 771 17.7±6.0 14.6±5.2 12.5±4.7 8.9±3.7 361(46.8) 410(53.2) 575(74.6) 196(25.4)
染色体正常 320 18.3±6.7 15.3±5.9 12.8±5.1 9.0±3.6 169(52.8) 151(47.2) 236(73.8) 84(26.2)
统计量 t=1.92 t=1.85 t=1.11 t=0.41 χ2=3.25 χ2=0.08
P 0.054 0.065 0.266 0.682 0.071 0.775
囊胚PGT-SR结果 囊胚数(枚) TSR[枚数(%)] CSR[枚数(%)] 易位片段是否含末端断点[枚数(%)]
<2 ≥2 <2 ≥2
染色体异常 771 179(23.2) 592(76.8) 253(32.8) 518(67.2) 478(62.0) 293(38.0)
染色体正常 320 100(31.3) 220(68.7) 110(34.4) 210(65.6) 227(70.9) 93(29.1)
统计量 χ2=7.67 χ2=0.25 χ2=7.91
P 0.006 0.618 0.005
表2 对染色体相互易位携带者的囊胚滋养外胚层细胞PGT-SR结果影响因素的多因素非条件logistic回归分析结果
表3 3种类型染色体相互易位携带者的囊胚滋养外胚层细胞PGT-SR结果构成比比较[枚数(%)]
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