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自1968年Valcnti 等利用羊水细胞报道首例染色体病21三体(先天愚型)儿的产前诊断以来,至今已20多年,其间相继开发了绒毛细胞、胎血细胞的产前诊断技术,开创了预防医学的新方向,是临床细胞遗传学的最大成就.在我国对染色体病的产前诊断技术也取得了较大进展并应用于临床.染色体病有360多种,常见的60多种,严重的染色体病在妊娠早期已被自然淘汰而流产,其总的自然淘汰率为93.6%出生率仅占6.4%有染色体病的新生儿约占新生儿的1/160～200,估计我国每年约有4～5万个染色体病患儿出生.在染色体异常中,除平衡易位携带者外,几乎都伴有智力低下、多发畸形、发育迟
Since 1968 Valcnti and other use of amniotic fluid cells reported the first case of trisomy 21 (chromosome 3) prenatal diagnosis of children has so far been more than 20 years, during which have been developed villi cells, prenatal fetal blood cell diagnosis and pioneered Preventive medicine is the new direction of clinical cytogenetics is the greatest achievement in our country on chromosome disease prenatal diagnosis technology has made great progress and applied to clinical.Chromosome disease has more than 360 kinds of common 60 kinds of serious Of chromosomal diseases have been spontaneously eliminated in the first trimester of pregnancy and abortion, the total natural elimination rate of 93.6% of the birth rate of only 6.4% of newborns with chromosomal disease accounted for about 1/160 ~ 200 newborns, an estimated about 4 ~ 50,000 chromosomes were born in children with chromosomal abnormalities, in addition to balanced translocation carriers, almost all accompanied by mental retardation, multiple deformities, delayed development