植入前遗传学诊断周期促排卵方案选择及特点分析

doi:10.7504/fk2016020108

摘要/Abstract

摘要：

控制性促排卵是植入前遗传学诊断（PGD）中的关键步骤之一。不同遗传性疾病可供移植的胚胎比例不同，因此对获卵数的要求有所不同。某些遗传性疾病本身对卵巢反应性可能有一定影响。文章首先介绍遗传性疾病中遗传方式决定的可供移植胚胎比例，然后重点分析PGD中控制性促排卵的特点，包括遗传性疾病可能对卵巢反应性的影响以及PGD中促排卵方案的选择和目前文献报道PGD获卵数的截断值。

关键词: 植入前遗传学诊断, 控制性超排卵, 卵巢反应性

Abstract:

Abstract:Controlled ovarian hyperstimulation（COH）plays a key role in preimplantation genetic diagnosis （PGD）.The ratio of genetically available transferable embryos after PGD to biopsied embryos is different among various hereditary diseases undergoing PGD，thus，the demand for the number of oocytes is different.Hereditary diseases may have impact on ovarian response to some extent.We firstly introduce the ratio of genetically available transferable embryos to biopsied embryos determined by hereditary pattern of various hereditary diseases，then emphasize the characteristics of COH，including the impact of hereditary diseases in PGD cycles on the ovarian response to COH，the choice of COH protocols in clinical work and the cutoff value of the number of oocytes reported from the recent literatures.

Key words: preimplantation genetic diagnosis, controlled ovarian hyperstimulation, ovarian response

中图分类号:

R321-33

胡晓坤，徐艳文. 植入前遗传学诊断周期促排卵方案选择及特点分析[J]. 中国实用妇科与产科杂志, DOI: 10.7504/fk2016020108.

HU Xiao-kun，XU Yan-wen.. Selection of ovarian stimulation protocols and characteristics analysis of preimplantation genetic diagnosis cycles.[J]. Acta Metallurgica Sinica, DOI: 10.7504/fk2016020108.

参考文献

[1]     Tsafrir A，Altarescu G，Margalioth E，et al.PGD for fragile X syndrome: ovarian function is the main determinant of success[J].Human Reprod，2010，25（10）:2629-2636.

[2] Feyereisen E，Amar A，Kerbrat V，et al.Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?[J].Human Reprod，2006，21（1）:175-182.

[3]    Sahu B，Ozturk O，Deo N，et al.Response to controlled ovarian stimulation and oocyte quality in women with myotonic dystrophy type I[J].J Assi Reprod Gene，2008，25（1）:1-5.

[4]     Srebnik N，Margalioth EJ，Rabinowitz R，et al.Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy[J].Reprod Biom Online，2014，29（1）:94-101.

[5]     Kawano Y，Narahara H，Matsui N，et al.Premature ovarian failure associated with a Robertsonian translocation[J].Acta Obstet Et Gynecol Scandi，1998，77（4）:467-469.

[6]     Kummer N，Martin JR，Pal L.Diminished ovarian reserve in a woman with a balanced 13;21 translocation[J].Fertil Steril，2009，91（3）:931e3-5.

[7]     Chen SH，Escudero T，Cekleniak NA，et al.Patterns of ovarian response to gonadotropin stimulation in female carriers of balanced translocation[J].Fertil Steril，2005，83（5）:1504-1509.

[8]     Dechanet C，Castelli C，Reyftmann L，et al.Do female translocations influence the ovarian response pattern to controlled ovarian stimulation in preimplantation genetic diagnosis? [J].Hum Re       prod，2011，26（5）:1232-1240.

[9]    Tur-Kaspa I.Clinical management of in vitro fertilization with preimplantation genetic diagnosis[J].Semin Reprod Med，2012，30（4）:309-322.

[10]    Liu Y，Zhou C，Xu Y，et al.Pregnancy outcome in preimplantation genetic diagnosis cycle by blastomere biopsy is related to both quality and quantity of embryos on day 3[J].Fertil Steril,2009,91（4 Suppl）:1355-1357.

[11]   Hu X，Wang J，Li Y，et al.Clinical considerations of preimplantation genetic diagnosis for monogenic diseases[J].PloS One,2015,10（9）:e0139613.

（2015-12-10收稿）

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