Studies of prenatal screening and diagnosis in Down′s syndrome

Objective In order to reduce the frequency of natal defect,establish a rapid and accurate method to screen and diagnose Down′s syndrome and other congenital abnormality.Methods Detect the value of AFP and β HCG in the serum of 2395 pregnant women at about 14th～20th weeks gestation by ELISA and calculate their risk coefficient with professional software YOUSHENG SHENGSUAN.Analyze karyotype in amniotic fluid and carry out gene diagnosis to Down′s syndrome high risk pregnant women.Perform B ultrasonography to neural tube defect (NTD) high risk cases.Results In 2395 pregnant women,282 cases (11.78%) were high risky to Down′s syndrome,NTD and trisomy 18,trisomy 13.According to further diagnosis,3 cases of 106 high risk pregnant women were abnormal pregnancies.Although 32 trisomy 18,trisomy 13 high risk cases didn′t accept further diagnosis,2 cases of them had been certified to be abnormal pregnancies because the fetuses died in the womb.According to B ultrasonography detection,only one of 68 NTD high risk cases was NTD fetus.Conclusion Prenatal screening and prenatal diagnosis play an important role in the prevention of Down′s syndrome and other congenital abnormality.