Correlation Between Ultrasonic Structural Malformation and Chromosomal Microarray Analysis / 中国医学影像学杂志

ABSTRACT

Purpose To discuss the correlation between ultrasonic structural malformation and chromosomal microarray analysis (CMA) to provide a reliable basis for establishment of a prenatal diagnosis process of fetal malformation.Materials and Methods 104 pregnant women with structural malformation,who received prenatal ultrasonic screening in Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University,were subjected to CMA detection.According to the results,they were divided into pathogenic group,Vous group and normal group,and the ultrasonic results and CMA results were compared and analyzed.Results Fifteen cases (14.42％) in the pathogenic group,including 9 cases of fetal aneuploidy,and 6 cases of microdeletion or mirco repetitive fetuses;28 cases (26.92％) in the Vous group and 61 cases (58.65％) in the normal group.There were 12 cases of two or more systems of deformity in the pathogenic group,in which the most common was complex congenital heart disease (9 cases),followed by nasal bone loss (4 cases);in the normal group and Vous group,most were single-system malformation,and the difference among three groups was statistically significant (x2=17.34,P＜0.01).There were 4 cases of pathogenic chromosomal abnormalities in the 17 cases of high risk pregnant women.Conclusion In prenatal counseling,if the fetus is found to have the malformation of two or more systems;the malformation variety contains complex congenital heart disease,nasal bone loss or malformation of other parts;high risk pregnant women combined with fetal structural malformation should be proposed to receive CMA detection to eliminate pathogenic chromosomal abnormalities.