Prenatal diagnosis and clinical analysis of fetal sex chromosome abnormalities / 重庆医科大学学报

ABSTRACT

Objectives:To analyze the association between fetal sexchromosome abnormalities and various high-risk indications during pregnancy. Methods:mid-trimester amniocentesis was used to detect fetal sex chromosomes in 2 346 high-risk pregnant women. Results:Among the 16 cases of abnormal sex chromosome,there were 3 cases of 45,X,1 case of 45,X/46,XX ,1 case of 45,X/46,X,i (X)(q10;q10),1 case of 45,X/46,XX,del(X)(q11),1 case of 46,X,i(X)(q10;q10),4 cases of 47,XXY,1 case of 47,XYY,2 cases of 47,XXX,1 case of 46,XY/47,XXY,and 1 case of 46,XX,inv9(X). Conclusion:To reduce the number of abnormal fetuses, invasive prenatal diagnostic techniques are feasible tools for confirming fetal sex chromosomes abnormalities. Advanced maternal age, positive serum screening results or ultrasound shows fetal abnormalities or fetal hygroma were associated with a higher frequency of fetal sex chromosome abnormalities.