Objective:To measure the clinical value of Chromosome microarray in fetuses with ultrasonic soft markers disordersMethods:Retrospective analysis of 290 patients diagnosed with ultrasonic soft markers disorders in the department of Obstetrises and gynaecology in Jinan maternal and child care hospital were enrolled.Results:Among the 290 patients.26 cases of Abnormal karyotype,positive rate 8.97%,17 cases of 21 Trisomy syndrome,3 cases of 18 Trisomy syndrome,2 cases of Turner syndrome,2 case of Mark syndrome,1 case of der(5)t(5;10)(p14;p14),1 case of del(15).32 cases of CNVs by CMA,positive rate 11.03%and additional detection rate 2.06%.The additional detection can be detected in all kinds of ultrasonic soft markers disorders,the detection rate of the patients with soft markers disorders increased 2.24 times.The abnormal karyotype detection rate of patients are listed as below:NT abnormal 23/130,choroid plexus cyst 6/101,single umbilical artery 2/23,ventriculomegaly 1/15.Conclusion:Chromosome microarray combined with karyotyping in fetuses with ultrasonic soft markers disorders was ideal for diagnosis which increased the detection rate of 2.06%. |