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目的通过对产前诊断病例中出现的染色体小片段异常胎儿的核型及相关临床资料的分析,探讨胎儿染色体小片段异常所导致的遗传学效应。方法对2012~2014年产前诊断中发现的10例染色体小片段异常胎儿的临床病史、B超检查、家系情况及妊娠结局等资料进行回顾性分析。结果在4966例产前诊断病例中发现染色体小片段结构异常10例:包括平衡易位5例,不平衡易位3例,倒位1例,小片段缺失1例。其中不平衡易位和小片段缺失的病例中,胎儿均有不同程度的畸形。平衡易位和倒位的病例,经过检查发现胎儿核型与父母一方核型完全一致。结论染色体小片段异常胎儿可以存活,染色体不平衡时会导致胎儿畸形,因此,产前诊断是有效降低出生缺陷的重要方法。
OBJECTIVE: To investigate the genetic effects caused by the abnormality of fetal chromosome fragments by analyzing the karyotypes and related clinical data of fetuses with small chromosomal abnormalities in prenatal diagnosis. Methods The clinical data of 10 fetuses with small chromosomal abnormalities detected during prenatal diagnosis from 2012 to 2014 were retrospectively analyzed. The clinical data including B-ultrasound, pedigree and pregnancy outcome were retrospectively analyzed. Results In 4966 cases of prenatal diagnosis, 10 cases were found to be structural abnormalities in chromosomes, including 5 cases of balanced translocation, 3 cases of unbalanced translocation, 1 case of inverted position and 1 case of small fragment deletion. In which cases of unbalanced translocation and small fragment deletion, the fetus has varying degrees of deformity. Balance translocation and inversions of the cases, after examination found that the fetal karyotype and one of the parents karyotype exactly the same. Conclusion Fetal chromosomal abnormalities can survive fetal fetus chromosome imbalance will lead to fetal malformations, therefore, prenatal diagnosis is an important method to effectively reduce birth defects.