B超引导下经腹绒毛与羊膜腔穿刺术在地中海贫血产前诊断中的应用

目的 探讨B超引导下经腹绒毛与羊膜腔穿刺术在地中海贫血产前诊断中的临床应用，寻找适合钦州市地中海贫血产前诊断的方法。方法 选取2021年3月至2022年4月在钦州市妇幼保健院医学遗传与产前诊断科就诊的531例单胎妊娠有生育重型或中间型地中海贫血患儿的高风险孕妇进行研究。根据取材方法分为对照组（羊膜腔穿刺取材，n=415）和研究组（经腹绒毛穿刺取材，n=116），比较两组患者的穿刺成功率、并发症发生率等。结果 对照组穿刺成功率100%，术后2周内流产2例，诊断为重型α-地中海贫血17例，重型β-地中海贫血10例及中间型地中海贫血64例；中间型及重型地中海贫血引产48例。研究组穿刺成功率100%，诊断为重型α-地中海贫血10例，重型β-地中海贫血4例及中间型地中海贫血17例；中间型及重型地中海贫血引产26例。两种方法在穿刺成功率及流产率方面比较，差异无统计学意义（P>0.05）。结论 两种穿刺术取材方法均安全、有效，但经腹绒毛穿刺取材术可在孕早期发现胎儿地中海贫血情况，临床上更值得推广应用。

Application of B-ultrasound-guided transabdominal villus and amniocentesis in prenatal diagnosis of thalassemia

Objective To explore the clinical application of ultrasound-guided transabdominal villus and amniocentesis in the prenatal diagnosis of thalassemia, and to find a suitable method for the prenatal diagnosis of thalassemia in Qinzhou. Methods A total of 531 high-risk pregnant women with severe or intermediate thalassemia during single pregnancy who were treated in the Department of Medical Genetics and Prenatal Diagnosis, Qinzhou Maternal and Child Health Hospital from March 2021 to April 2022 were selected for the study. According to different sampling methods, they were divided into control group (amniocentesis, n=415) and study group (transabdominal villus puncture, n=116). The success rate, complication rate of the two groups were compared. Results The success rate of puncture in the control group was 100%, 2 cases were aborted within 2 weeks after surgery, 17 cases were diagnosed with severe alpha-thalassemia, 10 cases with severe β-thalassemia and 64 cases with intermediate thalassemia, 48 cases with moderate and severe thalassemia induced labor. The success rate of puncture in the research group was 100%, 10 cases were diagnosed with severe alpha-thalassemia, 4 cases with severe β-thalassemia and 17 cases with intermediate thalassemia, and 26 cases with moderate severe thalassemia were induced labor. There was no significant difference in puncture success rate and abortion rate between the two methods (P>0.05). Conclusion Both methods are safe and effective. Transabdominal villus sampling can detect fetal thalassemia in early pregnancy, and it is worth promoting and applying in clinical practice.