中国实用妇科与产科杂志

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胎儿染色体结构和数目异常的遗传咨询和处理决策

高雪峰   

  1. 作者单位:北京大学第三医院妇产科生殖中心遗传室,北京100191
  • 出版日期:2013-08-02 发布日期:2013-07-23

  • Online:2013-08-02 Published:2013-07-23

摘要:

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。

关键词: 染色体核型, 数目异常, 结构异常, 遗传咨询

Abstract:

Abstract: Chromosome disease includes the numerical abnormalities and structural abnormalities of chromosomes. For the numerical abnormalities, especially for those with the abnormality of autosomal number, parents should be suggested to terminate pregnancy. For fetus with karyotype of unbalanced structural abnormalities, parents also should be commended to terminate the pregnancy because of the deletion or duplication of genetic material. If the karyotype of fetus is a balanced structural abnormality in de novo, the parents should be suggested to continue pregnancy. If the karyotype of fetus is a balanced structural abnormality de novo, probably there are some risks of congenital defects, counseling parents the likely phenotypes. If the parents select to continue the pregnancy, ultrasonic inspection prenatal and follow-up clinical information postnatal should be performed.

Key words: karyotypes, abnormal number, abnormal structure, genetic counseling

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