Analysis on karyotype of amniotic fluid cells from 306 fetus

Objective:To analyze the fetal chromosomal karyotypes in prenatal diagnosis and the relationship between abnormal karyotypes and the indications of prenatal diagnosis. Methods: Fetal chromosomal karyotypes were examined in 306 pregnant women (17 to 24 weeks' gestation) by amniocentesis. Results: 16 abnormal chromosomal karyotypes were detected,the abnormal rate was 5.23%(16/306). Balanced chromosomal translocation was the major abnormality,it was 7 out of 16(43.75%),including 6 cases of reciprocal autosomal translocation and 1 case of robertsonian translocation; Both of Trisomy and deletion had 2 cases,translocated trisomy 21 and inversion both had 1 case,and 3 cases were chromosomal polymorphism. Conclusion: In pregnant women with high-risk prenatal diagnosis indications,the frequency of fetus abnormal chromosomal karyotype is 5.23%,and chromosomal translocation,Trisomy and deletion are the major abnormalities.