介入性产前诊断技术在胎儿地中海贫血基因诊断的临床应用价值探讨

Application of gene diagnosis for fetal thalassenia with intervenfional prenatal diagnosis

目的探讨介入性产前诊断技术在胎儿地中海贫血基因诊断的临床应用价值。方法回顾性分析2014年至2015年间因有生育地中海贫血高危儿风险到本院进行介入性产前诊断手术的976例孕妇的临床资料。结果 3种介入性穿刺的手术成功率分别为:一次穿刺成功96.41%;二次穿刺成功2.86%,三次穿刺成功0.72%;113例(11.57%)行胎儿绒毛地贫基因检测,发生术后1w胎儿丢失2例(1.77%),早产1例(0.88%);710例(72.75%)行胎儿羊水检测地贫基因检测,发生早产13例(1.8 3%);153例(15.68%)行胎儿脐血地贫基因检测,发生术后1w胎儿丢失1例(0.65%),宫内死胎1例(0.65%),早产3例(1.96%),3组均未发生胎儿损伤及穿刺感染、胎盘早剥、羊水栓塞等并发症。976例手术样本无一例母血污染,全部检测成功,检测成功率100%。胎儿经检测确诊为正常基因型(未携带父母地贫基因)297例(30.43%);静止型及轻型地贫472例(48.36%);中间型α地贫(HbH病)胎儿92例(9.43%);重型α地贫胎儿50例(5.12%);重型β地贫胎儿65例(6.66%),治疗性引产129例,自行引产4例,843例胎儿均成功分娩。结论介入性产前诊断手术是一种具有较高的成功率和安全性的产前诊断取材技术,检测准确性高,是明确诊断重型地贫儿的重要方法,为临床治疗性引产提供可靠依据,在避免重型地贫儿出生,预防出生缺陷等方面具有积极意义,具有很高的临床应用价值。

Objective： To evaluate the interventional prenatal diagnosis technology in the clinical value of fetal thalassemia gene diagnosis. Methods.. From 2014 to 2015 were retrospectively analyzed in risk have fertility Mediterranean anemia highrisk infants to surgery in our hospital with interventional prenatal diagnosis of the clinical data of 976 cases of pregnant women. Results： Three interventional puncture success rate of surgery are： a puncture success 96.41%; Double puncture success 2.86%, three times puncture success 0.72%; 113 cases （11.57%） line of fetal villi poor genetic testing, a week after fetal loss occurred in 2 cases （1.77%） , premature birth in 1 case （0.88%） ; 710 cases （72.75%） of fetal amniotic fluid detection to lean gene detection, preterm delivery in 13 （1.83%） ; 153 cases （15.68%） of fetal umbilical cord blood to the poor genetic testing, occurred postoperative week fetal loss in 1 case （0.65%） , intrauterine demise in 1 case （0.65%） , premature birth in 3 patients （1.96%） , three groups were not fetal injury and puncture complications such as infection, placental abruption, amniotic fluid embolism. 976 cases of surgical samples without a mother blood pollution, all testing successfully, the detection rate of 100%. Normal fetal via detecting diagnosed with genotype （not to carry their parents poor gene） 297 cases （30.43%） . Static type and light to lean 472 cases （48.36%） ; Intermediate of alpha to lean （HbH disease） , 92 cases of fetus （9.43%） ; Heavy alpha to poor fetal 50 cases （5.12%） ; Heavy beta to poor fetal 65 cases （6.66%） , therapeutic induced labor 129 cases, 4 cases were induced labor itself, 843 cases of fetus were successful delivery. Conclusion： interventional surgery for prenatal diagnosis is a high success rate and safety of prenatal diagnosis based technology, high detection accuracy, and is an important method in diagnosis of heavy pauper, provide reliable basis for clinical therapeutic induced labor, was born in avoid heavy to pauper, prevention of birth defects has positive significance, are of great value in clinical application.