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目的通过分析湛江地区畸形新生儿染色体核型及报道1例世界首报的染色体异常核型,为产前筛查与诊断提供科学依据。方法对2005年1月-2012年12月在湛江市妇幼保健院产科出生的畸形新生儿共计250例进行外周血染色体核型分析。结果发现染色体异常核型160例,异常检出率64%;其中常染色体异常核型153例,占异常数的95.62%;性染色体异常核型7例,占异常数的4.38%;世界首报的1例染色体异常核型为46,XX,t(1,8,18,5)(p21;q23;q11;q21)(1qter→1p21::5q21→5qter;8pter→8q23::1p21→1pter;18pter→18q11::8q23→8qter;5pter→5q21::18q11→18qter)。结论染色体核型异常是引起新生儿畸形的重要原因之一;医院应该重视优生优育健康宣教,加强产前筛查与诊断,特别是高龄产妇的产前筛查与诊断工作,以降低围产儿和婴儿病死率,减少新生儿缺陷的发生率。
Objective To analyze the karyotype of chromosomal abnormalities in Zhanjiang area and report a case of chromosomal abnormal karyotype in the world for the first time to provide a scientific basis for prenatal screening and diagnosis. Methods A total of 250 cases of deformed neonates born in obstetrics department of Zhanjiang Maternal and Child Health Hospital from January 2005 to December 2012 were analyzed for karyotype of peripheral blood. The results showed that there were 160 cases of chromosomal aberration karyotype, the rate of abnormality was 64%. There were 153 cases of autosomal karyotype accounting for 95.62% of the abnormal number, 7 cases of sex chromosome abnormal karyotype accounting for 4.38% of the abnormal number. (1qter → 1p21 :: 5q21 → 5qter; 8pter → 8q23 :: 1p21 → 1 pk; p21; q23; q21; 18pter → 18q11 :: 8q23 → 8qter; 5pter → 5q21 :: 18q11 → 18qter). Conclusions Chromosome karyotype is one of the most important causes of neonatal malformations. The hospital should pay attention to the health missionary education of prenatal and postnatal care, strengthen the prenatal screening and diagnosis, especially the prenatal screening and diagnosis of the elder mothers to reduce the incidence of perinatal and Infant mortality, reduce the incidence of neonatal defects.