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在针对单基因疾病和染色体结构重排的植入前基因检测(PGT)周期中,活产率与卵母细胞产量、活检的囊胚数量以及适合移植的囊胚数量相关。

Live birth rate is associated with oocyte yield and number of biopsied and suitable blastocysts to transfer in preimplantation genetic testing (PGT) cycles for monogenic disorders and chromosomal structural rearrangements.

作者信息

Ben-Nagi Jara, Jones Benjamin, Naja Roy, Amer Ahmed, Sunkara Sesh, SenGupta Sioban, Serhal Paul

机构信息

Centre for Reproductive and Genetic Health, 230-232 Great Portland Street, London, W1W 5QS, UK.

Imperial College London, Du Cane Road, London, W12 0NN, UK.

出版信息

Eur J Obstet Gynecol Reprod Biol X. 2019 Jun 1;4:100055. doi: 10.1016/j.eurox.2019.100055. eCollection 2019 Oct.

Abstract

OBJECTIVES

To investigate whether live birth (LB) is associated with oocyte yield and number of biopsied and suitable blastocyst to transfer following preimplantation genetic testing (PGT) for monogenic disorders (PGT-M) and chromosomal structural rearrangements (PGT-SR).

STUDY DESIGN

All couples underwent controlled ovarian stimulation, blastocyst biopsy, vitrification and transfer of suitable embryo(s) in a frozen embryo transfer (FET) cycle.

RESULTS

Of 175 couples who underwent PGT treatment, 249 oocytes retrievals were carried out and 230 FET were subsequently undertaken. 122/230 (53%, 95% CI 47-59) FET resulted in a LB and 16/230 (7%, 95% CI 4-11) have resulted in ongoing pregnancies. 21/230 (9%, 95% CI 6-14) FET resulted in miscarriage and 69/230 (30%, 95% CI 24-36) concluded with failed implantation. Two (1%, 95% CI 0-3) transfers underwent termination for congenital malformation, with no evidence of misdiagnosis by prenatal testing. The relationship between number of oocytes retrieved and number of blastocysts biopsied and suitable embryos to transfer were significant (p = 0.00; Incidence rate ratio (IRR) 1.05; 95% 1.04-1.06; p = 0.00; IRR 1.04; 95%, 1.03-1.06), respectively. The number of oocytes collected (p = 0.007; OR 1.06; 95% CI 1.01-1.10), the number of blastocysts biopsied (p = 0.001; OR 1.14; 95% 95% CI 1.06-1.23) and the number of suitable embryos to transfer (p = 0.00; OR 1.38; 95% CI 1.17-1.64) were all significantly associated with the odds of achieving a LB. There is a 14% and 38% increased chance of a LB per additional blastocyst biopsied and suitable embryo to transfer, respectively.

CONCLUSIONS

PGT-M and PGT-SR outcomes are significantly associated with egg yield, number of blastocysts to biopsy and suitable embryos to transfer.

摘要

目的

探讨单基因疾病植入前基因检测(PGT-M)和染色体结构重排植入前基因检测(PGT-SR)后活产(LB)与卵母细胞产量、活检及适合移植的囊胚数量之间是否存在关联。

研究设计

所有夫妇均接受控制性卵巢刺激、囊胚活检、玻璃化冷冻,并在冻融胚胎移植(FET)周期中移植合适的胚胎。

结果

在接受PGT治疗的175对夫妇中,共进行了249次卵母细胞采集,随后进行了230次FET。230次FET中有122次(53%,95%可信区间47-59)活产,16次(7%,95%可信区间4-11)为持续妊娠。230次FET中有21次(9%,95%可信区间6-14)流产,69次(30%,95%可信区间24-36)以植入失败告终。2次(1%,95%可信区间0-3)移植因先天性畸形而终止妊娠,产前检查未发现误诊证据。检索到的卵母细胞数量与活检的囊胚数量及适合移植的胚胎数量之间的关系均具有显著性(p = 0.00;发病率比(IRR)1.05;95% 1.04-1.06;p = 0.00;IRR 1.04;95%,1.03-1.06)。采集的卵母细胞数量(p = 0.007;OR 1.06;95%可信区间1.01-1.10)、活检的囊胚数量(p = 0.001;OR 1.14;95% 95%可信区间1.06-1.23)和适合移植的胚胎数量(p = 0.00;OR 1.38;95%可信区间1.17-1.64)均与活产几率显著相关。每增加一个活检的囊胚和适合移植的胚胎,活产几率分别增加14%和38%。

结论

PGT-M和PGT-SR的结果与卵母细胞产量、活检的囊胚数量及适合移植的胚胎数量显著相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ad9/6817602/63882619a64c/gr1.jpg

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