产前诊断中胎儿新发生染色体异常的临床结局与遗传咨询

Genetic counseling and clinical outcome of fetus with de novo chromosomal aberrations

目的分析在产前诊断中胎儿新发生染色体异常的检测结果和临床结局，为胎儿新发生染色体异常的遗传咨询积累有价值的临床资料。方法2006年1月至2009年12月，在2583例产前诊断的细胞染色体核型分析中，共发现12例新发生的胎儿染色体异常，回顾性分析这12例胎儿的细胞和（或）分子细胞遗传学检测结果、产前超声检查结果、妊娠结局和出生后的随访结果。结果12例新发生染色体异常的胎儿有10例是非平衡性染色体异常，2例平衡性染色体异常。10例非平衡染色体异常的胎儿中有8例引产终止妊娠，有2例足月顺娩，其中l例是标记染色体异常出生后随访未见异常，另1例出生后随访至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顺娩，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 chromosome rearrangements and clinical outcome in fetus detected at prenatal diagnosis, and provide information for genetic counseling about de novo chromosomal aberrations. Methods From January 2006 to December 2009, we found 12 cases of de novo chromosomal aberrations in 2 583 cases of prenatal eytogenetic analyses and reviewed the karyotypes, other experimental analyses data, fetal ultrasound findings and clinical outcomes. Results Out of the i2 de novo chromosomal aberrations, 10 had unbalanced translocations and 2 had balanced reciprocal translocations. Eight of the 10 unbalanced translocation cases were terminated therapeutically, and 2 were delivered with full term. Neonates were phenotypically normal in the 2 cases with unbalanced translocations, but 1 had language retardation when followed up. The two balanced translocation cases were delivered with full term, and the neonates were phenotypically normal and clinical examinations were normal too. Conclusion Detailed eytogenetic and molecular study will be adjunctive tools for predicting the phenotype of fetus with de novo chromosomal aberrations. Fetal ultrasound examination will provide convincible demonstration to determine the outcome of pregnancy.