Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients
Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients
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DOI：
10.1016/j.fertnstert.2004.07.964
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发表时间：
2005-02-01
影响因子：
6.7
通讯作者：
DeBaun, MR
中科院分区：
文献类型：
--
作者：
Chang, AS;Moley, KH;DeBaun, MR
目的：最近发现辅助生殖技术(ART)与特定的印迹突变有关，如Beckwith-Wiedemann综合征(BWS)。在家畜实验的基础上，证明了ART过程中培养液的改变与大后代综合征之间的关系，我们假设培养液可能是ART后受孕BWS的共同因素。设计：回顾性病例系列。地点：学术医学中心登记。患者(S)：19名ART后出生的儿童在登记范围内。主要结果衡量(S)：患者的人口统计学、ART类型、培养介质、试管受精参数。结果(S)：从生殖内分泌中心获得19份病历。在12名BWS儿童的母亲中，有10名有LVF，但在这组儿童中没有使用单一、一致的培养液。其中一半患者接受了卵胞浆内单精子注射(ICSI；n=5)的体外受精，另一半患者接受了常规的体外受精。一个孩子是通过克罗尼芬(CC)刺激和人工授精受孕的，而另一名患者是通过促性腺激素刺激和宫内人工授精(IUI)受孕的。促性腺激素的剂量和移植胚胎的数量也有显著差异。唯一一致的发现是所有12名妇女都接受了某种类型的促卵巢药物。结论(S)：需要进行大规模的流行病学研究来进一步研究BWS与ART的关系。(Fertil Steril((R))2005；83：349-54.(C)2005年由美国生殖医学会提供。)
Objective: An association between assisted reproductive technique (ART) and specific imprinting mutations, such as Beckwith-Wiedemann syndrome (BWS), has recently been documented. Based on experiments in farm animals that demonstrated an association between alterations in culture media during ART and large offspring syndrome, we hypothesized that the culture media could be implicated as a common factor among the children with BWS conceived after ART.Design: Retrospective case series.Setting: Registry from Academic Medical Center.Patient(s): Nineteen children born after ART were identified within the registry.Main Outcome Measure(S): Demographics of patients, type of ART, culture media, IVF parameters.Result(S): Twelve of the 19 medical records from the reproductive endocrine centers were successfully obtained. Ten of 12 mothers of children with BWS had lVF, but no single, consistent culture media was used in this group. Half of the patients underwent IVF with intracytoplasmic sperm injection (ICSI; n = 5), whereas the other half had routine IVF. One child was conceived through clorniphene citrate (CC) stimulation and artificial insemination, whereas another patient conceived through gonadotropin stimulation with intrauterine insemination (IUI). The gonadotropin dosage and quantity of embryos transferred also varied significantly. The only consistent finding was that all 12 women received some type of ovarian stimulation medication.Conclusion(s): Large epidenniologic studies are needed to further study the association between BWS and ART. (Fertil Steril((R)) 2005;83:349-54. (C) 2005 by American Society for Reproductive Medicine.)