论文部分内容阅读
目的研究新生儿先天性畸形的临床与染色体异常核型特征,为提高产前诊断提供依据。方法采用常规外周血培养及制备染色体,G显带核型分析。结果 56例先天性畸形中,染色体异常以21-三体最为多见(40例占71.43%),其次有18-三体及13-三体,同时还发现一些罕见的染色体异常。临床上,常以特殊面容表现最为突出,同时先心、唇腭裂等较严重畸形在三体型中较为常见。结论染色体异常所致胎儿特殊异常表现,重点心血管,唇腭裂检查是提高产前诊断检出染色体异常的重要依据。
Objective To study the clinical and chromosomal abnormality karyotypes of congenital malformations in neonates and provide the basis for the improvement of prenatal diagnosis. Methods The routine peripheral blood culture and preparation of chromosomes, G-band karyotype analysis. Results Of the 56 congenital malformations, the most common chromosomal abnormalities were 21-trisomy (40 cases, 71.43%), followed by 18-trisomy and 13-trisomy. Some rare chromosomal abnormalities were also found. Clinically, often with a special facial performance of the most prominent, at the same time heart, cleft lip and palate and other more serious deformity in the three body type is more common. Conclusion Fetal abnormalities caused by chromosomal abnormalities in the performance of specific cardiovascular, cleft lip and palate check is an important basis for improving the detection of chromosomal abnormalities in prenatal diagnosis.