产前诊断检出染色体嵌合体对遗传咨询的影响

Influence of karyotype mosaicism detected in prenatal diagnosis on genetic counseling

随着国家不断重视妇幼围产方面的发展以及人们优生意识的增强,产前诊断技术得到了飞速的发展更深入的分子检测结果结果需正确解读,但是对遗传咨询医生是一道难题。目前染色体嵌合是影响产前诊断准确性的重要因素之一,受父母遗传学因素或者胎盘等因素的影响,普遍存在染色体嵌合现象。嵌合体形成的主要原因可能为有丝分裂期染色体错误分离。嵌合体对产前诊断的影响主要为绒毛或羊水染色体核型分析时提示嵌合的存在需要行羊膜腔穿刺或脐静脉穿刺进行验证。但检测过程中出现染色体嵌合体的真实性仍然对遗传医师咨询造成巨大的困恼,需要正确认识染色体嵌合的起源、形成机制等,为病人提供更多有价值的遗传信息,是做好产前诊断工作并提供合理的遗传咨询的重要前提。

With the country's continuous attention to the development of perinatal women and children and the enhancement of people's eugenics awareness,prenatal diagnosis technology has been rapidly developed.More in-depth molecular testing results need to be correctly interpreted,but it is a difficult problem to genetic counseling doctors.At present,chromosomal mosaicism is one of the important factors affecting the accuracy of prenatal diagnosis.Due to the influence of parents'genetic factors or placenta and other factors,the phenomenon of chromosomal mosaicism is common.The main cause of mosaicism formation may be mitotic chromosome misseparation.The influence of mosaicism on prenatal diagnosis mainly lies in the analysis of villi or amniotic fluid chromosome karyotype,suggesting that the existence of mosaicism requires amniocentesis or umbilical vein puncture for verification.However,the authenticity of chromosomal mosaicism in the detection process still causes great difficulties to genetic doctors'consultation.Therefore,it is necessary to correctly understand the origin and formation mechanism of chromosomal mosaicism and provide more valuable genetic information for patients,which is an important prerequisite for prenatal diagnosis and reasonable genetic consultation.