Suppr超能文献

孟加拉国绒毛取样(CVS)用于地中海贫血产前诊断的可行性和安全性

Feasibility and Safety of Chorionic Villus Sampling (CVS) for Prenatal Diagnosis of Thalassemia in Bangladesh.

作者信息

Kazal R K, Chowdhury S A, Mirza T T, Pervin H H, Noor F, Chakma B, Aalpona F Z

机构信息

Dr Rezaul Karim Kazal, Associate Professor, Department of Obstetrics and Gynaecology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh.

出版信息

Mymensingh Med J. 2018 Jul;27(3):578-584.

Abstract

Thalassaemia is one of the commonest inherited disorders in Bangladesh. Since population is rapidly increasing in Bangladesh, therefore birth of large number of new cases is expected every year. Chorionic villus sampling (CVS) is an invasive diagnostic procedure done in early pregnancy to obtain fetal cells for the prenatal diagnosis of chromosomal and genetic disorders like thalassemia. To investigate the feasibility, safety, and outcome of transabdominal Chorionic Villus Sampling (CVS) for prenatal diagnosis of Beta Thalassemia, this retrospective analytical study was carried out on women who had undergone transabdominal CVS for prenatal diagnosis of Beta thalassemia. All CVS are done at Fetal Medicine Centre, Family Foundation, Green Road, Dhaka, Bangladesh from June 2013 to December 2016. A total of 236 couples who were referred for prenatal diagnosis of thalassemia (Beta thalassemia & Hb-E beta thalassemia) were studied. Transabdominal CVS was done under local anesthesia and real-time ultrasound guidance. A 18G/88mm Spinal Needle (B Braun, Germany) was used. Most procedures were done between 11 and 13 weeks (range 11-14 weeks). All CVS were performed with the "2 operators" technique. The samples were sent for prenatal diagnosis by genetic analysis. Results were recorded and analyzed for descriptive statistics. Out of 236, 123 (52.1%) fetuses were diagnosed as trait (Beta trait or HbE trait), 64 (27.1%) as healthy fetuses and 49 (20.7%) as affected fetuses. A total of 236 CVSs were performed as outdoor basis. Most aspirations (95.1%) were easy; however, in 4.8% cases the aspiration was difficult due to a variety of factors. The overall success rate was 100%. Minor complications like placental hematoma and pervaginal (P/V) bleeding occurred in 2% & 1.3% respectively which were subsided by conservative management. The procedure related miscarriage within three weeks not occurred in any cases. Transabdominal CVS under real-time sonography is a useful outdoor procedure for prenatal diagnosis of beta thalassaemia in early pregnancy without significant risk to the mother and the fetus.

摘要

地中海贫血是孟加拉国最常见的遗传性疾病之一。由于孟加拉国人口迅速增长,因此预计每年会有大量新病例出生。绒毛取样(CVS)是在妊娠早期进行的一种侵入性诊断程序,用于获取胎儿细胞,以进行地中海贫血等染色体和遗传疾病的产前诊断。为了研究经腹绒毛取样(CVS)用于β地中海贫血产前诊断的可行性、安全性和结果,对接受经腹CVS进行β地中海贫血产前诊断的女性进行了这项回顾性分析研究。所有CVS均于2013年6月至2016年12月在孟加拉国达卡格林路家庭基金会胎儿医学中心进行。共研究了236对因地中海贫血(β地中海贫血和Hb-Eβ地中海贫血)转诊进行产前诊断的夫妇。经腹CVS在局部麻醉和实时超声引导下进行。使用了18G/88mm脊椎穿刺针(德国贝朗公司)。大多数操作在11至13周(范围为11 - 14周)进行。所有CVS均采用“两名操作人员”技术进行。样本通过基因分析送去进行产前诊断。记录结果并进行描述性统计分析。在236例中,123例(52.1%)胎儿被诊断为携带者(β携带者或HbE携带者),64例(27.1%)为健康胎儿,49例(20.7%)为患病胎儿。总共236次CVS在门诊进行。大多数抽吸(95.1%)操作容易;然而,4.8%的病例由于各种因素抽吸困难。总体成功率为100%。分别有2%和1.3%的病例出现胎盘血肿和经阴道(P/V)出血等轻微并发症,经保守治疗后症状缓解。在任何病例中均未发生与操作相关的三周内流产。实时超声引导下的经腹CVS是一种有用的门诊程序,可用于妊娠早期β地中海贫血的产前诊断,对母亲和胎儿无显著风险。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验