Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome
复制标题
DOI：
10.1093/humrep/dew012
复制
发表时间：
2016-04-01
影响因子：
6.1
通讯作者：
Christin-Maitre, Sophie
中科院分区：
文献类型：
--
作者：
Bernard, Valerie;Donadille, Bruno;Christin-Maitre, Sophie
研究问题：在一大群患有特纳综合征 (TS) 的法国妇女中，自然妊娠 (SP) 的患病率和结果如何？总结答案：在 480 名患有 TS 的妇女中，27 名妇女 (5.6%) 总共有 52 名 SP，其中 18 名妇女有 30 次足月分娩。 已知信息： 原发性卵巢功能不全是TS。到目前为止，很少有研究评估这些患者中 SP 的发生率。 研究设计、规模、持续时间：法国卫生部设立了国家罕见生长障碍参考中心 (CRMERC)，其中包括 TS。我们研究了 1999 年 1 月至 2014 年 1 月期间来自该中心七个内分泌科室（Saint-Antoine、Pitie-Salpetriere、Bicetre、里昂、马赛、布雷斯特、兰斯医院）的成年 TS 患者队列。 参与者/材料、环境、方法：总共纳入了 480 名 TS 成年患者。在知情同意后，患者的临床特征、核型和生殖史被收集到名为 CEMARA 的网络数据库中。我们的参考人群来自法国卫生部的数据库，收集法国普通人群的妊娠结果。为了找到 SP 的预测特征，我们将自然妊娠的 TS 患者与我们队列中的非妊娠 TS 患者进行了比较。主要结果和机会的作用：有 27 名患者 (5.6%) 总共有 52 个 SP。与SP发生相关的两个预测因素是自发初潮和镶嵌核型。受孕延迟中位数为 6 个月（范围 0-84）。 16 次妊娠中发生流产，流产率为 30.8%，法国普通人群流产率为 15%（P < 0.01）。其余妊娠结局为合法堕胎 (n = 2)、医疗中断 (n = 3)、宫内胎儿死亡 (n = 1) 和足月分娩 (n = 30)。剖腹产率高于一般人群，分别为 46.7% 和 21% (P < 0.001)。妊娠高血压疾病（PHD）4例（13.3%），其中轻度子痫前期2例（6.7%）。未观察到主动脉根部扩张或主动脉夹层。出生体重中位数为 3030 克（范围 2020-3460）。在该队列的 17 名女儿中发现了 2 例 TS 病例。 局限性和注意原因：评估 AMH 水平和 SP 发生率作为预测因素会很有趣。不幸的是，一些患者缺少激素测量。有必要进行前瞻性研究来显示 AMH 对 SP 的预后价值，从而更好地针对 TS 患者的生育力保存计划。研究结果的更广泛影响：本研究表明，SP 的妊娠结局比 TS 患者捐献卵母细胞后的妊娠结局更好。然而，胎儿染色体异常的风险仍然很高。我们的研究将有助于为 TS 患者、其家人、儿科医生和参与生殖的医生提供有关其生育能力的更好咨询。
STUDY QUESTION: What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)?SUMMARY ANSWER: Amongst 480 women with TS, 27 women (5.6%) had a total of 52 SP, with 30 full-term deliveries for 18 women.WHAT IS KNOWN ALREADY: Primary ovarian insufficiency is a classic feature of TS. So far, few studies have evaluated the rate of SP in these patients.STUDY DESIGN, SIZE, DURATION: The French Ministry of Health set up a National Reference Centre for Rare Growth Disorders (CRMERC), including TS. We studied a cohort of adult TS patients from seven endocrine units (Saint-Antoine, Pitie-Salpetriere, Bicetre, Lyon, Marseille, Brest, Reims Hospitals) belonging to this centre, between January 1999 and January 2014.PARTICIPANTS/MATERIALS, SETTING, METHODS: A total of 480 adult patients with TS were included. The patients' clinical characteristics, karyotypes and reproductive histories had been collected, after informed consent, in a web database called CEMARA. Our reference population was issued from a database belonging to the French Health Ministry, collecting pregnancy outcomes in the French general population. In order to find predictive characteristics of SP, TS with spontaneous pregnancies were compared with non-pregnant TS patients from our cohort.MAIN RESULTS AND THE ROLE OF CHANCE: There were 27 patients (5.6%) who had a total of 52 SP. The two predictive factors which correlated with occurrence of a SP were spontaneous menarche and mosaic karyotype. The median delay to conception was 6 months (range 0-84). Miscarriage occurred in 16 pregnancies, 30.8% versus 15% in the general French population (P < 0.01). The remaining pregnancy outcomes were legal abortion (n = 2), medical interruption (n = 3), intrauterine fetal death (n = 1) and delivery at term (n = 30). Caesarean section rates were higher than in the general population, respectively 46.7% versus 21% (P < 0.001). Pregnancy-induced hypertensive disorders (PHDs) occurred in four cases (13.3%), including two cases of mild pre-eclampsia (6.7%). Neither aortic root dilatation nor aortic dissection were observed. The median birthweight was 3030 g (range 2020-3460). Two cases of TS were identified in the 17 daughters issued from this cohort.LIMITATIONS, REASONS FOR CAUTION: It would have been interesting to evaluate AMH levels and SP occurrence, as a predictive factor. Unfortunately, hormonal measurements were missing for some patients. Prospective studies are necessary to display prognostic values of AMH for SP and thus better target fertility preservation programmes in TS patients.WIDER IMPLICATIONS OF THE FINDINGS: This study suggests that pregnancy outcomes in SPs are more favourable than those after oocyte donation in TS patients. However, the risk of fetal chromosomal abnormalities remains high. Our study will be useful in order to give patients with TS, their families, paediatricians and physicians involved in reproduction, better counselling concerning their fertility.