摘要
目的对153例Yq11.21-11.223区域缺失或重复的胎儿进行产前诊断,探讨Prental Bo Bs技术在产前诊断中的价值。方法对1973例有产前诊断指征的孕妇羊水细胞进行Prental Bo Bs和核型分析染色体,使用基因芯片对其结果进行验证。结果 1973例羊水中发现Yq11.21-11.223区域缺失或重复153例,异常率7.8%。其中26例胎儿筛查了父亲的染色体,父亲和胎儿染色体结果不一致的有3例。随访结果胎儿153例有6例引产,3例出生后不久夭折,其余均为正常男性胎儿,父亲有7例有轻微的少弱精症,其余均无临床症状。结论 Prental Bo Bs技术可以快速检测Yq11.21-11.223区域缺失或重复。
Objective：To use Prental Bo Bs for the prenatal diagnosis of 153 fetus with Yq11.21-11.223 deletions and duplications syndrome. Methods：The chromosome sample of fetal amniotic fluid cells from 1973 cases of high risk pregnant women by Prental Bo Bs detected and analyzed conventionally and the reliability of result with was validated by the determination of gene chip. Result：There were 153 cases of abnormal karyotypes in 1973 cases detected with amniocentesis,with an abnormal rate of 7.8%. Screening 26 cases fetus and father chromosome,among them 3 cases fetus and father chromosome are not consistent. Clinical follow-up results：6 cases fetus were induced labor,3 cases fetus die shortly after birth,the others were normal male fetus.There were 7 cases asthenozoospermia in 26 cases father′s follow-up results. Conclusion：Prental Bo Bs analysis technique can exactly and rapidly detect Yq11.21-11.223 deletions and duplications.
出处
《中国优生与遗传杂志》
2017年第12期17-18,共2页
Chinese Journal of Birth Health & Heredity
