全基因组扩增技术在产前诊断中的应用

摘要

目的：探讨全基因组扩增技术（WGA）结合微阵列比较基因组杂交技术（Array-CGH）在低 DNA浓度的产前样本中的应用价值。方法：对18例有产前诊断指征的孕妇进行侵入性产前诊断，所抽取的羊水或绒毛样本经DNA提取后因DNA浓度较低行全基因组扩增，再应用微阵列比较基因组杂交技术分析。结果：所检测的18例样本中，有3例异常，均提示为45，X0，其余芯片结果正常。随访15例正常aCGH结果的胎儿，有9例出生后正常。结论：应用WGA技术辅助微阵列比较基因组杂交技术对早孕期超声提示异常的胎儿进行产前诊断是可行的，它不仅缩短了发报告的时间也保持了应用aCGH技术检测的敏感性和精确性。%Objective To evaluate the value of whole genome amplification (WGA) combined with array comparative genomic hybridization (aCGH) in prenatal diagnosis. Methods Array CGH were performed by the DNA of 18 prenatal specimens , which were amplified by WGA because of the low DNA yield. Result 3 of the 18 fetuses were 45, X0 and 9 of 15 fetuses with normal aCGH results showed healthy outcome. Conclusion It’ s feasible for prenatal diagnosis using WGA combined with aCGH which not only can shorten the reporting time but also keep the sensitivity and accuracy of detection.