CAJ | 학술논문

目的分析胎儿染色体相互易位的临床效应,建立产前诊断的流程和临床咨询的方法.方法应用常规染色体G显带核型分析法检测7901份胎儿染色体.对染色体易位携带者的父母进行核型分析,对新发突变相互易位者进行基因芯片检测以排除微缺失综合征.产前超声监测胎儿至出生,出生1年后随访,对新发相互易位携带者随访至3岁.结果共发现24例胎儿携带相互易位,检出率为0.30％.对其父母的核型进行溯源分析发现遗传型相互易位17例,其中母源9例,父源8例.发现新发生的相互易位突变4例,其中3例父母拒绝染色体检测.对17例遗传型相互易位者产前超声监测和随访结果未见明显异常.4例新发生相互易位者芯片扫描检测未发现基因拷贝数变化,但产前超声监测和随访结果显示3例异常,其中1例涉及X染色体和常染色体相互易位.结论对于产前诊断中发现的染色体相互易位需追溯其亲代来源.基因芯片检测可排除微小缺失或重复,但仍需重视超声监测和生后随访,并根据检测结果综合分析,以提供正确的临床咨询.
목적 분석태인염색체상호역위적림상효응,건립산전진단적류정화림상자순적방법.방법 응용상규염색체G현대핵형분석법검측7901빈태인염색체.대염색체역위휴대자적부모진행핵형분석,대신발돌변상호역위자진행기인심편검측이배제미결실종합정.산전초성감측태인지출생,출생1년후수방,대신발상호역위휴대자수방지3세.결과 공발현24례태인휴대상호역위,검출솔위0.30％.대기부모적핵형진행소원분석발현유전형상호역위17례,기중모원9례,부원8례.발현신발생적상호역위돌변4례,기중3례부모거절염색체검측.대17례유전형상호역위자산전초성감측화수방결과미견명현이상.4례신발생상호역위자심편소묘검측미발현기인고패수변화,단산전초성감측화수방결과현시3례이상,기중1례섭급X염색체화상염색체상호역위.결론 대우산전진단중발현적염색체상호역위수추소기친대래원.기인심편검측가배제미소결실혹중복,단잉수중시초성감측화생후수방,병근거검측결과종합분석,이제공정학적림상자순.
Objective To analyze the clinical effect of fetal chromosomal reciprocal translocation in order to optimize procedures for prenatal diagnosis and clinical counseling.Methods Conventional Gbanding karyotype analysis was performed on 7901 amniotic fluid samples.For fetuses found to have carried a reciprocal translocation,karyotypes of their parents were checked.Fetuses with de novo translocation also underwent microarray analysis to exclude small deletions.Above fetuses were subjected to prenatal ultrasound monitoring till birth and one year follow-up.Those with de novo translocations were followed till 3 years old.Results A total of 24 fetal reciprocal translocations have been identified,which gave a detection rate of 0.30％.Analysis of parental karyotypes has found reciprocal translocations in 17 cases,including 9 maternal and 8 paternal cases.The remaining 4 were of de novo mutations,for which parental examination was refused by three cases.For fetuses with inherited translocations,prenatal ultrasound monitoring and follow-up results were all normal.For those with de novo translocations,although gene chip analysis has failed to detect copy number variations (CNVs),prenatal ultrasound and follow-up results had found three with abnormal outcome.These included 1 case with reciprocal translocation involving the X chromosome and autosomes.Conclusion For prenatally detected reciprocal chromosome translocations,the parental origin should be traced.Gene chip analysis can help to exclude small deletions and duplications.However,ultrasound monitoring and follow-up after birth are equally important.Based on comprehensive analysis of the results of combined testing,accurate counseling can be provided.