The second trimester screening for fetal chromosomal aneuploidy and Open neural tube defects
Objective：To evaluate the efficiency of the second trimester screening for fetal chromosomal anomaly using maternal serum marker. Method：A population-based screening for fetal chromosomal anomaly in the second trimester by maternal serum AFP，f-βHCG was conducted in Jiangsu Province between July 2002 and November 2006. 95 communities were sampled, which covered whole Jiangsu province. The risk estimates for fetal chromosomal abnormalities based on maternal age, alpha-fetoprotein (AFP) and human chorionic gonadotropin free βsubunit (f-βHCG). The screen was considered to be positive when the result was equal to or greater than 1:270 for Down Syndrome or 1:400 for Edwards syndrome. If gestational age was confirmed by ultrasound scan genetic counseling and amniocentesis were offered. All babies were followed up until six month to four years old after their birth. Result：During our program proceeding 26803 women of total 27313 women (98％) were screened, of whom 1244(5％) were found to be Down syndrome positive and 105(o.4％) were Edwards syndrome positive. The final pregnant outcomes show that 20 cases present chromosomal abnormalities totally, of whom 9 cases suffered from Down syndrome, 5 cases Edwards syndrome and 6 cases other chromosomal abnormalities. In this study the detection rate of Down syndrome and Edwards syndrome is 56％ and 80％ by maternal serum marker respectively. Conclusion：Under good quality control high prenatal detection rate of fetal chromosomal abnormalities can be reached with requirement for amniocentesis decreasing by means of the second trimester maternal serum maker.
HU Ya-li
Birth defect intervention group in Jiangsu province;Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China
国际会议
The 5th International Forum on Post-genome Technologies(5IFPT)(第五届国际后基因组生命科学技术学术论坛)
苏州
英文
2007-09-10（万方平台首次上网日期，不代表论文的发表时间）