DBS&CFFA Clinical Trial to Explore a New Prenatal Screening and Diagnosis Pattern for Fetal Chromosomal Abnormalities With Dried Blood Spots and Cell-free Fetal DNA.

Goals To build a training system and DBS and cffDNA prenatal screening procedure that is suitable to rural China. Objectives Develop a standardized prenatal screening test training program. Evaluate the efficiency and cost-effectiveness of DBS and cffDNA prenatal screening procedure in rural China. Specific activities Train the medical staff: Select two hospitals in Pinggu Village. Train all of the obstetricians and family doctors, nurses in these counties about the prenatal screening test as well as DBS and cff DNA technology. Build a series of standardized training profiles for the doctors and nurses. Evaluate the knowledge of the trained staff and compare the prenatal screening rate as well as some key health outcome variables pre and post the training. collect DBS sample in the 2nd trimestaer: Two thousand pregnant women will receive prenatal screening. DBS sample together with serum screening samples will be collected in the second trimester. Cff DNA for DBS high risk pregnant women: Cff DNA is offered to confirm the positive screening test results. amniocentesis for Cff DNA high risk pregnant women: Amniocentesis is offered for confirmation of the test results. Follpw-up the neonatal outcome: All of the pregnancy and neonatal outcomes will be followed. Statistical analysis: We can estimate the efficiency and cost-effectiveness of DBS followed with cff DNA screening procedure. We can give the recommendation to the government for a potential expansion of new screening diagnosis procedure to be used in the countryside. Analytic methods Build the database by visual Foxpro 5.0. Use the SAS9.2 software to do statistical analysis. Expected results and products Develop standardized prenatal screening test training program for the doctors and nurses in rural China. Estimate the training outcome. Estimate the detection rate of DBS and compare with maternal serum screening test. Estimate the sensitivity of specificity of cffDNA test. Estimate the efficiency and cost-effectiveness of DBS and cff DNA screening procedure. Make sure if DBS and cffDNA is suitable to rural China and successfully decreases the birth defects. Timetable Year 1 Select the hospitals and form the contracts with local staff. Develop the training program and finish training. Evaluate the training outcome. Start to collect DBS samples followed with cffDNA. Enroll the pregnant women in the second trimester who sign the consent form. Year 2 Follow-up the pregnancy and neonatal outcomes. Finish the statistical analysis and paper writing.