摘要
目的对2 018例孕中期胎儿进行羊水细胞培养及染色体核型结果分析,探讨高风险孕妇的胎儿染色体异常核型类型、比例及其与产前诊断指征的关系,并对异常嵌合核型的胎儿进行妊娠结局分析。方法于孕16~24周抽取不同产前诊断指征下孕妇的羊水标本,进行羊水细胞培养及染色体核型分析。结果检测出异常核型61例,异常检出率3.0%（61/2 018）。其中血清学筛查高风险、高龄孕妇（≥35岁）、超声检测异常、不良妊娠或家族史组别的异常检出率分别为2.8%、2.3%、9.2%和10.6%,血清学筛查高风险与高龄孕妇组之间异常核型检出率差异无统计学意义（P〉0.05）。61例异常核型中数目异常43例,其中常染色体数目异常33例（21三体23例、18三体9例、13三体1例）,性染色体数目异常10例;结构异常12例,包括平衡易位7例,罗氏易位2例,插入、缺失、倒位各1例。另检出6例染色体嵌合核型,其中2例低比例嵌合胎儿的父母选择继续妊娠,随访结果未见表型异常。结论胎儿染色体核型异常在各产前诊断指征下均具有较高的检出率;低比例嵌合个体出生后表型可正常;羊水细胞染色体核型分析能为产前诊断胎儿染色体病提供可靠的依据。
ObjectiveTo analyze retrospectively the results of amniotic fluid cell culture and chromosome karyotypes among 2 018 fetuses in the 2nd trimester pregnancy,and to investigate the relationships of abnormal chromosome karyotypes and proportions with the syndromes of prenatal diagnosis and the pregnancy outcomes for fetuses with abnormal mosaic karyotypes. MethodsAmniotic fluid samples were extracted from pregnant women according to prenatal diagnosis syndromes,whose gestational ages were 16 to 24 weeks. The samples were determined for amniotic fluid cell culture and chromosome karyotypes. ResultsA total of 61 cases of abnormal chromosome karyotypes were determined,and the abnormal rate was 3.0%（61/2 018）. The abnormal rates in groups with high risk results of serological screening,high pregnant ages（≥35 years old）,abnormal ultrasound determination results and adverse pregnancy or family history were 2.8%,2.3%,9.2% and 10.6%,respectively. The abnormal rates between the groups with high risk results of serological screening and high pregnant ages showed no statistical significance（P〉0.05）. A total of 43 cases of numerical abnormality of chromosome karyotypes were determined,including 23 cases of trisomy 21,9 cases of trisomy 18 and 1 case of trisomy 13 and 10 cases of sex chromosome. There were 12 cases of structural abnormality of chromosome karyotypes,including 7 cases of balanced translocation,2 cases of Robertsonian translocation,1 case of insertion,1 case of deletion and 1 case of inversion. Furthermore,6 cases of mosaic karyotypes were determined,and 2 pregnant women of the 6 cases with low proportion gave birth to their babies,but they showed no abnormal phenotypes after follow-up. Conclusions There are high abnormal rates under different syndromes of prenatal diagnosis. Fetuses with low proportion of mosaic karyotypes may have normal phenotypes. Amniotic fluid chromosome karyotype analysis can provide a reliable reference for the diagnosis of fetal chromosome abnormalities.
出处
《检验医学》
CAS
2016年第9期778-781,共4页
Laboratory Medicine
关键词
染色体
产前诊断
羊水穿刺
Chromosome
Prenatal diagnosis
Amniocentesis
