“当闪电击中两次”——植入前基因检测在一次活检中有两个适应症。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2025-03-17 DOI:10.1002/pd.6779
Einav Kremer, Hagit Daum, Amy Solnica, Tamar Krisher, Assaf Ben Meir, Efrat Esh-Broder, Mali Ketzinel Gilad, Talya Daniel Mordechai, Tal Imbar
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引用次数: 0

摘要

目的:探讨两种适应症(PGT2)和一种常染色体显性遗传适应症(PGT1)进行胚胎植入前基因检测的妇女的临床妊娠率和活产率是否存在差异。方法:本回顾性队列研究总结了2015 - 2023年间44例PGT患者的治疗数据。数据分为PGT2组(n = 22例,113个治疗周期)和PGT1组(n = 22例,108个治疗周期)。统计分析包括描述性统计、独立t检验、Mann-Whitney U检验、混合模型和多变量混合逻辑回归。结果:两组临床妊娠率和活产率无差异。PGT2患者比PGT1组每个周期有更多的新鲜胚胎(分别为4.84 vs 3.18;P = 0.067),活检后冷冻胚胎数量显著减少(分别为0.29 vs 0.60;p = 0.037)。在平均适合活检的胚胎方面没有发现差异。PGT2组每周期移植的胚胎较少(1.30 vs 1.89;P = 0.007),但每个周期移植胚胎的数量没有差异。结论:在一次活检中检测两种遗传适应症是可行的,但产生的胚胎基因适合移植的比例较低,但活产率相似。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
'When Lightning Strikes Twice'-Preimplantation Genetic Testing for Two Indications in One Biopsy.

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.

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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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