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目的通过研究我院5590例孕妇羊水染色体核型检测结果,为优生优育提供实验依据。方法统计2015年1月至2015年12月柳州市妇幼保健院5590例孕妇羊水染色体结果,分析其阳性率、各异常核型分布情况以及各年龄段阳性差异。结果染色体阳性标本为152例,累积阳性率为2.72%,检出率为:三体综合征为73(48.03%)包括:47,XN,+21为58(38.16%)、47,XN,+18为8(5.26%)、47,XN,+13为7(4.61%)、易位t为15(9.87%)、倒位inv为9(5.92%)、缺失del为1(0.66%)、衍生染色体der为16(10.53%)、等臂染色体i为2(1.32%)、标记染色体mar/来自母体mat为4(2.63%)/其他染色体异常为32(21.71%),染色体阳性结果以三体综合征为主;三体综合征的比例随年龄增大而增加。结论羊水染色体检查是产前诊断的重要方法,可对降低出生缺陷、优生优育、提高人口素质起到重要作用。
Objective To investigate the results of amniotic fluid chromosome karyotype test in 5590 pregnant women in our hospital to provide experimental evidence for prenatal and postnatal care. Methods A total of 5590 pregnant women with amniotic fluid chromosome from January 2015 to December 2015 in Liuzhou Maternal and Child Health Hospital were collected to analyze the positive rate, the distribution of abnormal karyotypes and the positive differences among all age groups. Results The positive rate of chromosomal positive samples was 152, with a positive rate of 2.72%. The detection rates were as follows: trisomy 73 (48.03%) included 47, XN, + 21 58, 38.16% 18 is 8 (5.26%), 47, XN, + 13 is 7 (4.61%), translocation t is 15 (9.87%), inverted inv is 9 (5.92%), del is 1 (0.66% Derived chromosomes der were 16 (10.53%), arm II was 2.32%, marker mar / 4 (2.63%) from maternal maturity and 32 (21.71%) were other chromosomal abnormalities. Chromosome-positive results were expressed as tris Body syndrome; the proportion of trisomy increased with age. Conclusions Amniotic fluid chromosome examination is an important method of prenatal diagnosis, which can play an important role in reducing birth defects, prenatal and postnatal care, and improving population quality.