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在美国使用植入前遗传学诊断和植入前遗传学筛查:辅助生殖技术学会工作组论文。

Use of preimplantation genetic diagnosis and preimplantation genetic screening in the United States: a Society for Assisted Reproductive Technology Writing Group paper.

机构信息

Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.

出版信息

Fertil Steril. 2011 Oct;96(4):865-8. doi: 10.1016/j.fertnstert.2011.07.1139. Epub 2011 Aug 26.

DOI:10.1016/j.fertnstert.2011.07.1139
PMID:21872229
Abstract

OBJECTIVE

To comprehensively report Society for Assisted Reproductive Technology (SART) member program usage of preimplantation genetic testing (PGT), preimplantation genetic diagnosis (PGD) for diagnosis of specific conditions, and preimplantation genetic screening for aneuploidy (PGS).

DESIGN

Retrospective study.

SETTING

United States SART cohort data.

PATIENT(S): Women undergoing a PGT cycle in which at least one embryo underwent biopsy.

INTERVENTION(S): PGT.

MAIN OUTCOME MEASURE(S): PGT use, indications, and delivery rates.

RESULT(S): Of 190,260 fresh, nondonor assisted reproductive technology (ART) cycles reported to SART CORS in 2007-2008, 8,337 included PGT. Of 6,971 cycles with a defined indication, 1,382 cycles were for genetic diagnosis, 3,645 for aneuploidy screening (PGS), 527 for translocation, and 1,417 for elective sex election. Although the total number of fresh, autologous cycles increased by 3.6% from 2007 to 2008, the percentage of cycles with PGT decreased by 5.8% (4,293 in 2007 and 4,044 in 2008). As a percentage of fresh, nondonor ART cycles, use dropped from 4.6% (4,293/93,433) in 2007 to 4.2% (4,044/96,827) in 2008. The primary indication for PGT was PGS: cycles performed for this indication decreased (-8.0%). PGD use for single-gene defects (+3.2%), elective sex selection (+5.3%), and translocation analysis (+0.5%) increased. PGT usage varied significantly by geographical region.

CONCLUSION(S): PGT usage in the United States decreased between 2007 and 2008 owing to a decrease in PGS. Use of elective sex selection increased. High transfer cancellation rates correlated with reduced live-birth rates for some PGT indications.

摘要

目的

全面报告辅助生殖技术协会(SART)成员对植入前遗传学检测(PGT)、特定疾病诊断的植入前遗传学诊断(PGD)和非整倍体筛查(PGS)的应用情况。

设计

回顾性研究。

设置

美国 SART 队列数据。

患者

在至少一个胚胎进行活检的 PGT 周期中接受治疗的女性。

干预措施

PGT。

主要观察指标

PGT 的使用、适应证和分娩率。

结果

在 2007-2008 年向 SART CORS 报告的 190260 个新鲜非捐赠者辅助生殖技术(ART)周期中,有 8337 个包含 PGT。在有明确适应证的 6971 个周期中,1382 个周期用于遗传诊断,3645 个周期用于非整倍体筛查(PGS),527 个周期用于易位分析,1417 个周期用于选择性性别选择。尽管 2007 年至 2008 年新鲜自体周期的总数增加了 3.6%,但进行 PGT 的周期比例却下降了 5.8%(2007 年为 4293 个,2008 年为 4044 个)。从新鲜非捐赠者 ART 周期的百分比来看,使用率从 2007 年的 4.6%(4293/93433)下降到 2008 年的 4.2%(4044/96827)。PGT 的主要适应证是 PGS:用于该适应证的周期减少了(-8.0%)。用于单基因缺陷的 PGD 使用率(+3.2%)、选择性性别选择(+5.3%)和易位分析(+0.5%)增加。PGT 的使用情况在地理区域上存在显著差异。

结论

由于 PGS 的减少,2007 年至 2008 年美国 PGT 的使用量下降。选择性性别选择的使用增加。对于某些 PGT 适应证,高的胚胎移植取消率与活产率降低相关。

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