CAJ | 학술논문

　　目的探讨产前诊断常见染色体数目异常的技术策略。方法2010年4月-2012年8月来我院产科门诊进行产前诊断的孕妇，常规穿刺采集羊水或脐带血样本，同时采用常规的染色体核型和荧光原位杂交(fluorescence in situ hybridization， FISH)方法进行检测，比较两种方法的产前诊断结果。结果染色体核型分析报告时间平均为4~5周，494例羊水或脐血样本中有2例分析失败；总染色体异常为8.74%(43/492)；数目异常占异常总数的81.40%(35/43)，结构异常占18.60%(8/43)。在数目异常中，21三体占74.29%(26/35)，18三体17.14%(6/35)，性染色体数目异常8.57%(3/35)。染色体荧光原位杂交报告时间平均为72~96 h；染色体数目异常为7.09%(35/494)，21三体占数目异常的74.29%(26/35)，18三体17.14%(6/35)，性染色体数目异常8.57%(3/35)，对于染色体数目异常的分析结果与核型分析结果一致。FISH未能检出染色体结构异常。结论针对常见的染色体数目异常(21三体、18三体、13三体、性染色体单体或三体)，FISH可直接进行产前诊断；FISH联合染色体核型分析是较全面了解染色体畸形的产前诊断技术策略。
　　목적탐토산전진단상견염색체수목이상적기술책략。방법2010년4월-2012년8월래아원산과문진진행산전진단적잉부，상규천자채집양수혹제대혈양본，동시채용상규적염색체핵형화형광원위잡교(fluorescence in situ hybridization， FISH)방법진행검측，비교량충방법적산전진단결과。결과염색체핵형분석보고시간평균위4~5주，494례양수혹제혈양본중유2례분석실패；총염색체이상위8.74%(43/492)；수목이상점이상총수적81.40%(35/43)，결구이상점18.60%(8/43)。재수목이상중，21삼체점74.29%(26/35)，18삼체17.14%(6/35)，성염색체수목이상8.57%(3/35)。염색체형광원위잡교보고시간평균위72~96 h；염색체수목이상위7.09%(35/494)，21삼체점수목이상적74.29%(26/35)，18삼체17.14%(6/35)，성염색체수목이상8.57%(3/35)，대우염색체수목이상적분석결과여핵형분석결과일치。FISH미능검출염색체결구이상。결론침대상견적염색체수목이상(21삼체、18삼체、13삼체、성염색체단체혹삼체)，FISH가직접진행산전진단；FISH연합염색체핵형분석시교전면료해염색체기형적산전진단기술책략。
Objective To study the techniques for prenatal diagnosis of abnormal chromosomes. Methods Amniotic fluid or umbilical cord blood samples were taken from pregnant women who visited our department from April 2010 to August 2012. Their prenatal abnormal chromosomes were diagnosed by fluorescence in situ hybridization (FISH) and routine chromosome karyotyping, respectively, and compared. Results The average time of chromosome karyotype analysis was 4-5 weeks. Of the 492 amniotic fluid or umbilical cord blood samples that were analyzed, 2 were failed. The chromosome karyotype analysis showed that the total abnormal chromosomes accounted for 8.74% (43/492), the abnormal chromosomes accounted for 81.40% of the total abnormal chromosomes (35/43), the chromosomes with abnormal structures accounted for 18.60%(8/43), the trisomes 21 and 18 accounted for 74.29%(26/35) and 17.14%(6/35) respectively, the abnormal sex chromosomes accounted for 8.57%(3/35). The average time of FISH was 72-96 h. The FISH showed that the abnormal chromosomes accounted for 7.09%(35/494), and the trisomes 21 and 18 accounted for 74.29%(26/35)and 17.14%(6/35) respectively, and the abnormal sex chromosomes accounted for 8.57%(3/35), which were consistent with those of chromosome karyotype analysis. No abnormal chromosome structure was detected by FISH. Conclusion FISH can diagnose the prenatal abnormal trisomes 21, 18, 13 and sex chromosome monosome and trisome. FISH in combination with chromosome karotype analysis is strategy for understanding the chromosome.