Studies on Down′s Syndrome Prenatal Screening and Diagnosis.

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 2812 pregnant women at about 14 th ～20 th 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 2812 pregnant women, 315 cases (11.2%) were high risk to Down′s syndrome, NTD and trisomy 18, trisomy 13. According to further diagnosis, 1 cases of 84 high risk pregnant women were abnormal pregnancies. Although 27 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 79 NTD high risk cases was NTD fetus. Conclusion: Prenatal screening and prenatal diagnosis have very important significance to the prevention of Down′s syndrome and other congenital abnormality.