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“当闪电再次击中时”——一次活检用于两种指征的植入前基因检测

'When Lightning Strikes Twice'-Preimplantation Genetic Testing for Two Indications in One Biopsy.

作者信息

Kremer Einav, Daum Hagit, Solnica Amy, Krisher Tamar, Ben Meir Assaf, Esh-Broder Efrat, Gilad Mali Ketzinel, Mordechai Talya Daniel, Imbar Tal

机构信息

IVF Unit, Department of Obstetrics and Gynecology, Hadassah Medical Organization and Faculty of Medicine, The Hebrew University, Jerusalem, Israel.

Department of Genetics, Hadassah Medical Organization and Faculty of Medicine, The Hebrew University, Jerusalem, Israel.

出版信息

Prenat Diagn. 2025 May;45(5):631-637. doi: 10.1002/pd.6779. Epub 2025 Mar 17.

Abstract

OBJECTIVE

We aimed to investigate whether the clinical pregnancy and live birth rates in women undergoing preimplantation genetic testing for two indications (PGT2) differ from PGT for one autosomal dominant indication (PGT1).

METHOD

This retrospective cohort study summarizes data from 44 PGT patients treated between 2015 and 2023. Data were divided into PGT2 (n = 22 patients, 113 treatment cycles) and PGT1 (n = 22 patients, 108 treatment cycles) groups. Statistical analysis included descriptive statistics, independent t-tests, Mann-Whitney U tests, mixed models, and multivariable mixed logistic regressions.

RESULTS

The groups did not differ in clinical pregnancy and live birth rates. PGT2 patients had more fresh embryos per cycle than the PGT1 group (4.84 vs. 3.18 respectively; p = 0.067) and a significantly lower number of frozen embryos after biopsy (0.29 vs. 0.60 respectively; p = 0.037). No difference was found regarding the mean suitable embryos for biopsy. The PGT2 group had fewer embryos to transfer per cycle (1.30 vs.1.89; p = 0.007), yet there was no difference regarding the number of transferred embryos per cycle.

CONCLUSION

Testing for two genetic indications in one biopsy is feasible yet yields a lower proportion of embryos genetically suitable for transfer but with a similar live birth rate.

摘要

目的

我们旨在研究因两种指征接受植入前基因检测(PGT2)的女性的临床妊娠率和活产率是否与因一种常染色体显性指征接受PGT(PGT1)的女性不同。

方法

这项回顾性队列研究总结了2015年至2023年期间接受治疗的44例PGT患者的数据。数据分为PGT2组(n = 22例患者,113个治疗周期)和PGT1组(n = 22例患者,108个治疗周期)。统计分析包括描述性统计、独立t检验、曼-惠特尼U检验、混合模型和多变量混合逻辑回归。

结果

两组在临床妊娠率和活产率方面没有差异。PGT2患者每个周期的新鲜胚胎比PGT1组多(分别为4.84个和3.18个;p = 0.067),活检后冷冻胚胎数量显著更少(分别为0.29个和0.60个;p = 0.037)。在适合活检的平均胚胎数量方面未发现差异。PGT2组每个周期可移植的胚胎更少(1.30个对1.89个;p = 0.007),但每个周期移植的胚胎数量没有差异。

结论

在一次活检中检测两种遗传指征是可行的,但产生的基因适合移植的胚胎比例较低,但活产率相似。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fed/12054392/de32f9681482/PD-45-631-g002.jpg

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