2 475 cases of fetal karyotype detection and prenatal diagnosis indications analysis / 重庆医学

ABSTRACT

Objective To analyze the chromosome karyotypes,prenatal diagnosis indications and pregnancy outcomes of high-risk pregnant women in Guangzhou.Methods 2 475 cases pregnant women with screening high risk were operated amniocen-tesis or cordocentesis from January 2010 to September 2012,then amniotic fluids and cord bloods were cultured and the cell were collected for chromosome preparation,G banding,karyotype analysis.We completed follow-up works lastly.Results 38 cases were detected chromosomal abnormality(including 12 cases Down′s syndrome,9 cases sex chromosome abnormality,7 cases transloca-tion,5 cases Edwards′syndrome,2 cases inversion,2 cases deletion,1 cases triploid),the abnormal rate was 1.54%.132 cases were detected chromosomal polymorphism(60 cases 1,9,16qh+ ,30 cases inv(9),25 cases D/Gs+ ,17 cases Y polymorphism).Research on prenatal diagnosis indications,there were 449 cases advanced age,668 cases Down′s screening with high risk,158 cases with ab-normal B ultrasound screening,38 cases with adverse pregnancy history.Conclusion The highest percentage abnormal karyotype is Down′s syndrome.Down′s screening high risk is the main reason for prenatal diagnosis.It is very important to do prenatal diagnos-tic and system B ultrasound for the high-risk pregnant women.