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用于β地中海贫血的绒毛取样:伊朗经验的首次报告。

Chorionic villus sampling for beta-thalassemia: the first report of experience in Iran.

作者信息

Akhlaghpoor Shahram

机构信息

Novin Medical Radiation Institute, Medical Imaging.

出版信息

Prenat Diagn. 2006 Dec;26(12):1131-6. doi: 10.1002/pd.1572.

Abstract

OBJECTIVES

Beta-thalassemia is one of the most common hereditary disorders in Iran. The prenatal diagnosis of beta-thalassemia is part of a control program in our country and it began 13 years ago. During the past 8 years the number of procedures has increased significantly as also the legal abortions. This is the first report made on the CVS program in Iran.

MATERIALS AND METHODS

One thousand six hundred and sixty-one cases of transabdominal Chorionic Villus Sampling (CVS) have been retrospectively evaluated. Among them 1381 cases had inclusion criteria. CVS results, complications and fetal loss rate were evaluated. The distributions of the population at risk were divided between eight regions that have been proposed for beta-thalassemia mapping previously.

RESULTS

The mean age of the patients was 26.2 +/- 5.2 years with mean gestational age of 11.4 +/- 1.4 weeks. CVS was successful in all the patients (100%) although 1% required a second procedure. Post CVS fetal loss was 1.45%. Other minor complications were bleeding or spotting (1.81%), amniotic fluid leak (0.5%), small sub-chorionic hematoma (0.58%), severe abdominal pain (0.6%) and severe vasovagal reaction (0.14%). Late complications were seen in 0.21% (oligohydraminos). Approximately 2/3 of the patients were referred from three regions of the country, North (26.8%), South West (22.4%), Central (19.5%) and the remainder (31.3%) were from the other five regions.

CONCLUSION

CVS is a safe and effective method for prenatal diagnosis of beta-thalassemia in countries with a high prevalence as in Iran. The overall complication rate is quite low and acceptable. Fortunately the recent acceptance of legal abortion with respect to Muslim rules has increased the effectiveness of the procedure and made great advances in its application in Iran. Correspondingly, social knowledge has also improved but still there is a gap between the population at risk and the required prenatal diagnosis laboratories and sampling centers.

摘要

目的

β地中海贫血是伊朗最常见的遗传性疾病之一。β地中海贫血的产前诊断是我国控制计划的一部分,始于13年前。在过去8年中,操作数量和合法堕胎数量都显著增加。这是伊朗关于绒毛取样(CVS)计划的首份报告。

材料与方法

对1661例经腹绒毛取样(CVS)病例进行了回顾性评估。其中1381例符合纳入标准。评估了CVS结果、并发症和胎儿丢失率。将高危人群分布在先前为β地中海贫血图谱研究提议的八个区域。

结果

患者平均年龄为26.2±5.2岁,平均孕周为11.4±1.4周。所有患者(100%)的CVS均成功,尽管1%的患者需要进行第二次操作。CVS术后胎儿丢失率为1.45%。其他轻微并发症包括出血或点滴出血(1.81%)、羊水渗漏(0.5%)、绒毛膜下小血肿(0.58%)、严重腹痛(0.6%)和严重血管迷走神经反应(0.14%)。晚期并发症发生率为0.21%(羊水过少)。约2/3的患者来自该国的三个地区,北部(26.8%)、西南部(22.4%)、中部(19.5%),其余(31.3%)来自其他五个地区。

结论

在伊朗这样患病率较高的国家,CVS是β地中海贫血产前诊断的一种安全有效的方法。总体并发症发生率相当低且可接受。幸运的是,最近根据穆斯林规则对合法堕胎的认可提高了该操作的有效性,并使其在伊朗的应用取得了巨大进展。相应地,社会认知也有所改善,但高危人群与所需的产前诊断实验室和取样中心之间仍存在差距。

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