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目的探讨染色体平衡易位携带者的妊娠风险。方法统计60例易位携带者生育情况,并对孕妇进行羊水染色体分析,随访妊娠结果。结果 60例为染色体易位携带者,女性41例,男性19例,其中平衡易位携带者40例,罗伯逊易位18例。60例孕妇既往妊娠134例次(不包括人工流产和本次妊娠),其中自然流产101例次(75.37%)、B超诊断胎儿畸形、死胎终止妊娠10例次(7.46%),活产缺陷儿14例次(10.45%),未经产前诊断出生的正常表现儿9例次(6.72%)。60次产前诊断,检出正常细胞核型19例(31.67%),平衡易位30例(50%),不平衡易位11例(18.33%),染色体异常检出率为(平衡易位和不平衡易位)68.33%。结论染色体平衡易位是造成流产、死胎、生育畸形的主要原因,男性和女性携带者的生育能力有所不同,羊水细胞染色体分析能有效预防患儿出生。
Objective To investigate the risk of pregnancy in chromosomal equilibrium translocation carriers. Methods The statistics of 60 cases of translocation carriers of fertility, and pregnant women for amniotic fluid chromosome analysis, follow-up of pregnancy results. Results Sixty cases were carriers of chromosomal translocations, including 41 females and 19 males, of whom 40 were carriers of balanced translocations and 18 were Robertsonian translocations. Among the 60 pregnant women, 134 were pregnant (excluding abortion and this pregnancy), including 101 cases of spontaneous abortion (75.37%), B ultrasound diagnosis of fetal malformation, 10 cases of stillbirth termination (7.46%), live birth defect 14 cases (10.45%), 9 cases (6.72%) were normal without prenatal diagnosis. Sixty cases of prenatal diagnosis were found in 19 cases (31.67%) with normal cell karyotype, 30 cases (50%) with balanced translocation and 11 cases (18.33%) with unbalanced translocation. The detection rate of chromosome abnormality was Unbalanced translocation) 68.33%. Conclusions Chromosomal balance translocation is the main cause of miscarriage, stillbirth and maternal malformation. The fertility of male and female carriers is different. Chromosome analysis of amniotic fluid cells can effectively prevent the birth of children.