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Abstract To analyze the situation of chromosomal karyotype abnormality based on gene chip analyzed of fetal malformation after ultraphonic screening. Methods: From November 2016 to October 2019, the data of 312 pregnant women who had experienced gene chip technique because of their fetal malformation after ultraphonic screening were collected retrospectively. The results of fetal chromosome gene chip and karyotype analysis of these women were statistically analyzed. Results: Among the fetus of these 312 pregnant women, there were 65 cases with neurological abnormalities, 57 cases with thickened NT/NF, and 45 cases with cardiovascular abnormalities after ultrasound screening. There were 63 abnormal case diagnosed by gene chip technique, and the detection rate of multiple malformations was the highest (54.6%). Among 260 cases with successful karyotype analysis, there were 29 cases with abnormal chromosome karyotype, and the detection rate of tumor (36.8%), the multiple malformation rate (30.0%) was the highest, which included 2 cases with 47, XN, + mar, 1 case with balanced translocation, 1 case with roche translocation, and 1 case with sex chromosome abnormal. There were 23 cases with karyotype abnormalities, which were consistent with the results of gene chip technique. 1 case with sex chromosomal mosaic by gene chip technique was confirmed by cerotype analysis. Conclusion: Gene chip technique can improve the detection rate of fetal malformation chromosome abnormality, and the detection rate of gene chip technique is higher than that of chromosome karyotype.
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