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染色体病分为染色体数目异常和结构异常。对于染色体数目异常尤其是常染色体数目异常的胎儿,建议终止妊娠。胎儿染色体核型为非平衡性结构异常者,因有遗传物质的缺失或重复,故建议终止妊娠;而平衡性遗传性结构异常因胎儿的核型遗传自夫妇之一,通常为表型正常的携带者,另外,夫妇一方有染色体异常时,再次妊娠时流产和生育畸形儿的风险较高,所以建议患者继续妊娠。平衡性非遗传性结构异常大多数情况为表型正常的携带者,但少数情况下有合并先天畸形的可能。
Chromosome disease is divided into abnormal chromosome number and structural abnormalities. For abnormal chromosome number, especially the number of autosomal abnormal fetus, it is recommended termination of pregnancy. Fetal karyotype for non-balanced structural abnormalities, due to genetic material missing or repeated, it is recommended termination of pregnancy; and balance of genetic structural abnormalities due to the fetal karyotype inherited from one of the couple, usually phenotypic normal In addition, the other side of the couple had chromosomal abnormalities, pregnancy again abortion and reproductive malformations higher risk of children, it is recommended that patients continue with pregnancy. Balance of non-genetic structural abnormalities in most cases phenotype normal carriers, but in a few cases the possibility of congenital malformations.