目的探讨多重链接探针依赖扩增(multiplex ligation-dependent probe amplification,MLPA)技术对于检测自然流产组织染色体异常的价值,并对染色体异常病例的临床特点进行分析。方法采用MLPA对500例自然流产组织进行检测,分析检测结果,分析染色体异常与孕妇年龄、孕周及超声的关系。结果 500例自然流产组织中,染色体异常率42.2%,其中常染色三体最多,占77.7%,其次为性染色单体(即Turner综合征),占19.4%。5个年龄组(18~24岁、25~29岁、30~34岁、35~39岁、40~45岁)染色体异常率分别为35.1%、41.1%、44.2%、47.8%、57.9%,经卡方检验,各组间差异无统计学意义(P>0.05)。孕周≤7周、7周<孕周<12周和孕周≥12周者染色体异常率分别为46.4%、44.2%、2.6%,孕周≥12周组的染色体异常率较低,差异具有统计学意义(P<0.05)。回顾到225例早期自然流产患者彩超,有胎心组和无胎心组染色体异常率分别为45.8%、38.3%,差异无统计学意义(P<0.05)。有胎心组中可存活常染色三体(21三体、13三体、18三体)及(45,X)高于无胎心组,差异具有统计学意义(P<0.05)。结论染色体异常是导致自然流产的主要的因素,无论孕妇年龄大小,本次自然流产均有可能与染色体异常有关。早期自然流产染色体异常率比晚期自然流产高。可存活常染色三体(21三体、13三体、18三体)及(45,X)多发生在曾有胎心的自然流产中。 Objective To investigate the value of multiplex ligation-dependent probe amplification (MLPA) in the detection of chromosomal abnormalities in spontaneous abortion and to analyze the clinical features of chromosomal abnormalities. Methods MLPA was used to detect 500 cases of spontaneous abortion. The test results were analyzed. The relationship between chromosomal abnormalities and age, gestational age and ultrasound was analyzed. Results In 500 cases of spontaneous abortion, the abnormal rate of chromosome was 42.2%, of which the most often tristereted was 77.7%, followed by the sex chromosome monomer (Turner syndrome), accounting for 19.4%. The chromosomal abnormalities in 5 age groups (18-24 years old, 25-29 years old, 30-34 years old, 35-39 years old, 40-45 years old) were 35.1%, 41.1%, 44.2%, 47.8%, 57.9% The chi-square test, the difference between the groups was not statistically significant (P> 0.05). The gestational weeks ≤7 weeks, 7 weeks