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《Chinese Journal of Birth Health & Heredity》 2011-01
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The prognosis analysis on the 32 cases with chromosome abnormality among 1075 cases in prenatal diagnosis

QIN Ting,TIAN Mao,MO Wei-ying,SHI Yue-qiu.(People's Hospital of Guangxi Zhuang Autonomous Region,530021)  
Objective: To study the relationship between fetal chromosome abnormality and the high risk factors of prenatal diagnosis,and fetal prognosis.Methods: To analyze the fetal chromosome karyotypes which were performed the amniocentesis or cordocentesis in prenatal diagnosis due to various reasons in our hospital from October 2004-August 2009.Results: In 1075 cases,the number of fetal chromosome abnormality was 32 in prenatal diagnosis,and the detection rate of chromosome abnormality was 2.97%.There was one case of 45,XY,t(21;14) ,two cases of both fetuses of 46,XX,22Pstk + ,one case of 47,XY,+ (?) ,one case of 46,XX,t(8;16) ,one case of 46,XY,t(1;18) ,one case of 46,XY,t(2;14) ,one case of 46,XX,t(11;12) The indication of prenatal diagnosis was the chromosome balanced translocation.In one case of 46,XY,inv(Y) ,the indication of prenatal diagnosis showed that the patient has given birth to the baby with Down syndrome.In ten cases of 46,XY,inv(9) ,the indications of prenatal diagnosis were as follows: oligohydramnios(1) single umbilical artery (1) ,history of taking embryotoxicity medicine in pregnancy (1) ,high risk for Down syndrome through screening (4) ,advanced maternal age (2) ,thalassemia (1).In one case of 47,XXY,the indication of prenatal diagnosis was fetal pyelic separation.In six cases of Down syndrome,the indications of prenatal diagnosis were as follows: two cases of high risk for Down syndrome,three cases of advanced maternal age and one case with high NT value.In two cases of 47,XYY,the indications of prenatal diagnosis were one case of high risk for Down syndrome and one case of advanced maternal age.In one case of 47,XXY/46,XX,the indication of prenatal diagnosis was high risk for Down syndrome.In three cases of trisomy 18,the indications of prenatal diagnosis were as follows: one case of advanced maternal age,one case with high NT value and one case of high risk for trisomy 18 and 13.Conclusions: the variety of fetal chromosome karyotype is caused by the chromosome balanced translocation of one of the couple.The fetuses with Down syndrome and trimosy 18 are common in those patients: pregnant women in elder age,pregnant women at high risk for Down syndrome through serologic screening and pregnant women with high NT value.To improve the efficiency of prenatal diagnosis and reduce the birth defects,the following methods can be adopted: measuring the NT value with the ultrasonic B examination at 11-14 weeks of gestation and adopting the serologic screening for Down syndrome at midgestation.
【CateGory Index】: R714.55
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