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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
Chinese Journal of Practical Gynecology and Obstetrics ›› 2013, Vol. 9 ›› Issue (8) : 614-618.
PDF(897 KB)
PDF(897 KB)
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.
karyotypes / abnormal number / abnormal structure / genetic counseling
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