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目的分析145例怀疑染色体异常新生儿的细胞遗传学检测结果,为优生优育提供科学依据。方法选择有资料记载的1997至2014在长宁妇保院出生的,怀疑染色体异常的新生儿145例进行细胞遗传学检查,对异常患儿的染色体核型及临床表现进行总结。结果因不同送检原因检出的染色体异常核型54例,异常检出率37.2%,其中常染色体异常核型50例,占92.5%,性染色体异常核型4例,占7.5%,涉及异常核型20种。检出率排名前三位的送检原因为怀疑先天愚型、泌尿生殖系统畸形以及羊水染色体出生后随访。结论我院新生儿染色体核型异常检出率高,检出率差异与送检原因有关。21三体综合征是新生儿时期最常见的染色体异常。
Objective To analyze the cytogenetic test results of 145 suspected neonates with chromosomal abnormalities and provide scientific basis for prenatal and postnatal care. Methods 145 patients with suspected neonatal chromosomal abnormalities born in Changning Women’s Hospital from 1997 to 2014 were enrolled in this study. Cytogenetic tests were performed to summarize the chromosomal karyotypes and clinical manifestations of children with abnormalities. Results There were 54 cases of chromosomal aberration karyotype detected by different reasons, the rate of abnormality was 37.2%. There were 50 cases of autosomal karyotype accounting for 92.5%, 4 cases of chromosomal abnormal karyotype accounting for 7.5% Karyotype 20 species. The detection rate of the top three reasons for the detection of Down’s syndrome, genitourinary system deformity and amniotic fluid chromosomes after birth follow-up. Conclusion Our hospital neonatal chromosome karyotype abnormality detection rate is high, the detection rate difference and the reason of submission. Trisomy 21 is the most common chromosomal abnormality in the neonatal period.