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目的对1例胎儿产前诊断为7q11.2重复综合征的回顾性分析,评价产前BACs-on-Beads(Bo Bs)技术在产前诊断中的应用价值。方法应用G显带分析羊水细胞染色体,并用Bo Bs分析胎儿常见非整倍体染色体病及了解是否有目标区域微小缺失和重复。结果羊水细胞染色体结果为未见明显异常,Bo Bs结果显示胎儿7q11.2发生微重复。结论 BACson-Beads技术与传统细胞学技术相结合,大大提升产前诊断技术水平。
Objective To evaluate the value of prenatal BACs-on-Beads (Bo Bs) in prenatal diagnosis of a fetus prenatal diagnosis of 7q11.2 repeat syndrome. Methods G - banding was used to analyze the amniotic fluid cell chromosomes. The common aneuploidy chromosomes were analyzed by Bo Bs, and whether there were tiny deletions and duplications in the target area. Results The result of amniotic fluid cell chromosome showed no obvious abnormalities. Bo Bs results showed that fetal 7q11.2 microdissected. Conclusion BACson-Beads technology combined with traditional cytology techniques greatly enhance the level of prenatal diagnosis.