摘要
目的:研究染色体微阵列和核型分析在颈项透明层(NT)增厚胎儿产前诊断中的价值。方法:选取产前诊断中NT增厚胎儿的孕妇85例,NT≥2.5 mm,均接受染色体微阵列及核型分析,同时结合临床资料,探讨诊断价值。结果:通过对染色体微阵列及核型的比较发现,染色体微阵列异常阳性率为42.35%(36/85);核型异常阳性率为24.71%(21/85);微阵列异常但核型正常15例,其中临床意义不明拷贝数变异(CNV)8例、良性CNV 3例、致病性CNV 4例。对不同因素下染色体微阵列结果进行统计学分析显示,高龄孕妇与非高龄孕妇的染色体微阵列异常程度比较,差异无统计学意义(P>0.05);单独NT异常孕妇的异常程度明显低于NT合并超声其他异常孕妇,差异有统计学意义(P<0.05);且继续妊娠孕妇的异常程度显著低于引产孕妇,差异有统计学意义(P<0.05)。结论:在产前诊断中,通过对NT增厚胎儿的染色体微阵列和核型分析,能够达到了解其染色体的微覆盖以及微缺失等情况的目的,可为临床诊断提供更多的参考依据。
Objective:To investigate the value of chromosomal microarray and karyotype analysis in the prenatal diagnosis of NT.Methods:85 pregnant women who diagnosed with NT thickened fetus,NT≥2.5 mm were enrolled,all of them were analyzed by chromosome microarray and karyotype analysis,combined with their clinical data to explore the diagnostic value.Results:By comparing chromosome microarray and karyotypes analysis,the positive rate of chromosome microarray was 42.35%(36/85).The positive rate of karyotype abnormality was 24.71%(21/85).There were 15 cases of abnormal microarray but normal karyotype,included 8 cases with unknown copy number variation(CNV)of clinical significance,3 cases of benign CNV and 4 cases of pathogenicity CNV.Chromosome microarray results under different factors by statistical analysis showed that,the chromosomal microarray abnormalities between senile and non-senile pregnant women was compared,the difference was not statistically significant(P>0.05).Separate NT abnormal pregnant women was significantly lower than other anomalies NT combined ultrasonic level of pregnant women,the difference was statistically significant(P<0.05).The degree of abnormality in pregnant women who continue to be pregnant was significantly lower than that of pregnant women who had induced labor,the difference was statistically significant(P<0.05).Conclusion:In prenatal diagnosis,chromosome microarray and karyotype analysis of NT thickened fetus can be used to understand the microcoverage and microdeletion of chromosomes,which can provide more reference for clinical diagnosis.
作者
熊敏
Xiong Min(Maternal and Child Care Hospital of Jin'an District,Lu'an City,Anhui Lu'an 237006)
出处
《中国社区医师》
2021年第16期101-102,共2页
Chinese Community Doctors
关键词
颈项透明层增厚
产前诊断
染色体微阵列
染色体核型
拷贝数变异
Fetuses with increased nuchal translucency
Prenatal diagnosis
Chromosome microarray
Karyotype
Copy number variation
