5823例孕妇孕中期唐氏综合征产前筛查结果分析

Analysis on the results of prenatal screening of Down's syndrome among 5 823 pregnant women during the second trimester of pregnancy

目的：通过对孕中期唐氏综合征筛查结果进行分析，探讨其对降低新生儿出生缺陷的意义。方法：对5823例孕15-21周孕妇用化学发光法进行血清生化标志物甲胎蛋白（AFP）、游离雌三醇（uE3）和绒毛膜促性腺激素（B-HCG）浓度测定，利用唐氏综合征专用风险评估软件，结合孕妇体重、年龄、孕周进行风险评估，计算胎儿患21-三体综合征（Ds）、神经管缺陷（NTD）、18-三体综合征的风险度。对高风险孕妇在知情同意的情况下行羊水穿刺，进行染色体检查确诊，并追踪其产后情况。结果：筛查5823例孕妇，共筛出高风险孕妇374例，其中241例行羊水穿刺染色体核型分析，彩超畸形筛查和定期随访确认，11例存在染色体异常（其中21三体6例，18三体2例，其他异常3例），5例神经管缺陷（无脑儿2例，开放性脊柱裂3例），其他畸形6例。所有确诊的畸形孕妇均实施了中期引产术终止妊娠。追踪随访参加筛查的孕妇至胎儿出生，1例高风险孕妇未做产前诊断足月分娩1例唐氏儿。结论：对孕中期孕妇进行唐氏综合征的产前筛查，有利于高风险胎儿的早期诊断和早期干预，降低新生儿的出生缺陷率。

Objective： To explore the significance of prenatal screening of Down~ syndrome during the second trimester of pregnan- cy for reducing the incidence rate of birth defects by analyzing the results of prenatal screening of Downg syndrome during the second trimes- ter of pregnancy. Methods： Chemiluminiscence was used to detect the concentrations of serum biochemical markers （AFP, unconjugated estriol, and β -HCG） among 5 823 pregnant women during 15 -21 gestational weeks; a professional Down t syndrome assessment software combined with maternal weight, age, gestational weeks was used to evaluate the risk, the risk degrees of trisomy 21, neural tube defects, and trisomy 18 of fetuses were calculated; for the high risk pregnant women, amniocentesis was performed for definite diagnosis under the condition of their informed consent, the postpartum situations were followed up. Results： A total of 5 823 pregnant women were screened, and 374 high risk pregnant women were screened out, 241 pregnant women of them received amniocentesis and karyotype analysis, the re- sults were confirmed by Color Doppler uhrasonography and regular follow - up, then 11 cases were diagnosed as chromosomal abnormalities （including 6 cases with trisomy 21, 2 cases with trisomy 18, 3 cases with other abnormalities）, 5 cases were diagnosed as neural tube defects （ including 2 cases of anencephalus and 3 cases with opened spina bifida）, 6 cases were diagnosed as other malformations. All the pregnant women whose fetuses were diagnosed as malformations definitely received induced abortion to terminate pregnancy during the second tr- mester of pregnancy. All the pregnant women were followed up until delivery, one high risk pregnant women who didnt receive prenatal diag- nosis gave birth to a baby with Down syndrome. Conclusion： Conducting prenatal screening of Down g syndrome among pregnant women during the second trimester of pregnancy is benefit for early diagnosis and early intervention of high risk fetuses of Down syndrome, and low- ering the incidence rate of birth defects.