CAJ | 학술논문

目的分析在产前诊断中胎儿新发生染色体异常的检测结果和临床结局,为胎儿新发生染色体异常的遗传咨询积累有价值的临床资料.方法 2006年1月至2009年12月,在2583例产前诊断的细胞染色体核型分析中,共发现12例新发生的胎儿染色体异常,回顾性分析这12例胎儿的细胞和(或)分子细胞遗传学检测结果、产前超声检查结果、妊娠结局和出生后的随访结果.结果 12例新发生染色体异常的胎儿有10例是非平衡性染色体异常,2例平衡性染色体异常.10例非平衡染色体异常的胎儿中有8例引产终止妊娠,有2例足月顺娩,其中1例是标记染色体异常出生后随访未见异常,另1例出生后随访至2周岁发现语言功能发育迟缓.2例平衡性染色体异常的胎儿均足月顺娩,出生后随访未发现异常.结论新发生染色体异常的胎儿表型可通过详细的染色体核型分析以及进一步的分子细胞遗传学检测所提供的染色体成分进行预测,产前超声结构畸形检查可为妊娠结局的评估提供有力的参考依据.
목적 분석재산전진단중태인신발생염색체이상적검측결과화림상결국,위태인신발생염색체이상적유전자순적루유개치적림상자료.방법 2006년1월지2009년12월,재2583례산전진단적세포염색체핵형분석중,공발현12례신발생적태인염색체이상,회고성분석저12례태인적세포화(혹)분자세포유전학검측결과、산전초성검사결과、임신결국화출생후적수방결과.결과 12례신발생염색체이상적태인유10례시비평형성염색체이상,2례평형성염색체이상.10례비평형염색체이상적태인중유8례인산종지임신,유2례족월순면,기중1례시표기염색체이상출생후수방미견이상,령1례출생후수방지2주세발현어언공능발육지완.2례평형성염색체이상적태인균족월순면,출생후수방미발현이상.결론 신발생염색체이상적태인표형가통과상세적염색체핵형분석이급진일보적분자세포유전학검측소제공적염색체성분진행예측,산전초성결구기형검사가위임신결국적평고제공유력적삼고의거.
Objective To analyze the chromosome rearrangements and clinical outcome in fetus detected at prenatal diagnosis, and provide information for genetic counseling about de novo chromosomal aberrations. Methods From January 2006 to December 2009, we found 12 cases of de novo chromosomal aberrations in 2 583 cases of prenatal cytogenetic analyses and reviewed the karyotypes, other experimental analyses data, fetal ultrasound findings and clinical outcomes. Results Out of the 12 de novo chromosomal aberrations, 10 had unbalanced translocations and 2 had balanced reciprocal translocations. Eight of the 10unbalanced translocation cases were terminated therapeutically, and 2 were delivered with full term.Neonates were phenotypically normal in the 2 cases with unbalanced translocations, but 1 had language retardation when followed up. The two balanced translocation cases were delivered with full term, and the neonates were phenotypically normal and clinical examinations were normal too. Conclusion Detailed cytogenetic and molecular study will be adjunctive tools for predicting the phenotype of fetus with de novo chromosomal aberrations. Fetal ultrasound examination will provide convincible demonstration to determine the outcome of pregnancy.