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目的分析产前诊断中胎儿新发生染色体异常的临床结局。方法对某院1997年1月～2009年12月1346例产前诊断细胞染色体核型分析发现的6例新发生的胎儿染色体异常病例进行分析,观察6例新发生的胎儿染色体异常病例的细胞遗传学检测结果、产前超声检查结果及妊娠结局。结果 6例新发生染色体异常的胎儿中,非平衡性染色体异常4例,占66.7%;2例平衡性染色体异常,占33.3%;4例非平衡染色体异常的胎儿中有2例选择引产终止妊娠,有1例足月分娩,1例出生后失访。足月分娩者随访至2周岁发现语言功能发育迟缓。2例平衡性染色体异常的胎儿均足月分娩,出生后随访未发现异常。结论新发生染色体异常的胎儿表型可通过详细的染色体核型分析以及进一步的分子细胞遗传学检测所提供的染色体成分进行预测,产前超声结构畸形检查可为妊娠结局的评估提供有力的参考依据。
Objective To analyze the clinical outcome of prenatal diagnosis of fetal chromosomal abnormalities. Methods Six cases of newly diagnosed fetal chromosomal abnormalities were found in 1346 prenatal diagnosis of karyotype analysis in a hospital from January 1997 to December 2009, and 6 cases of newly diagnosed cases of fetal chromosomal abnormalities were observed. School test results, prenatal ultrasound findings and pregnancy outcomes. Results Among 6 newly diagnosed fetuses with chromosomal abnormalities, 4 cases were unbalanced chromosomal abnormalities (66.7%), 2 cases were balanced chromosomal abnormalities (33.3%), and 2 of 4 non-balanced fetal abnormalities chose termination of pregnancy , One case of full-term delivery, one case lost after birth. Full-term births were followed up to 2 years of age found that language dysfunction. 2 cases of balanced chromosome abnormalities were full-term fetal delivery, postnatal follow-up found no abnormalities. Conclusions Fetal phenotype of new chromosomal abnormalities can be predicted by detailed chromosomal karyotype analysis and further analysis of chromosomal elements provided by molecular cytogenetics. Prenatal ultrasound structural abnormalities can provide a powerful reference for the assessment of pregnancy outcome .