Liu Yan-hui, Li Li-fen, Wu Ya-min
Department of Medical Genetics, Tung Wah Hospital, Sun Yat-sen University, Guangzhou, China.
Nan Fang Yi Ke Da Xue Xue Bao. 2010 Mar;30(3):532-4, 537.
To study the clinical value of screening chromosomal diseases and abnormal pregnancy by maternal serum examination in mid-pregnancy.
Maternal serum AFP and F-beta hCG were detected in the mid-pregnancy (16-20 weeks) using commercially available detection kits, and the risk of Down syndrome was calculated taking into account of such factors as the maternal age, gestational age, and body weight. Those at high risk underwent amino fluid or cordocentesis for fetal karyotpying. The pregnant women were divided into >or=35 years and <35 years groups, and high and low risk for Down syndrome groups for test results and pregnancy outcome analysis.
Of the 6000 pregnant women undergoing antenatal screening, 552 were identified to be at high risk of Down syndrome (9.2%) with one missing case of detection, and 463 of the high-risk cases underwent amino fluid or cordocentesis examination. Twenty-seven cases were found to have abnormal chromosomes, and abortion was suggested in 14 cases but not in the other 13 cases where other chromosomal abnormalities such as polymorphic mutations were found. The screening positive rate in >or=35 years and <35 years group was 95.5% and 8.2% (P<0.0001), with fetal chromosomal abnormality rate of 4.5% and 2.9%, respectively (P>0.5). The rate of abnormal pregnant outcomes for high and low risk groups was 5.6% and 0.05% (P<0.0001), with pregnancy complication rate of 11.8% and 3.7% (P<0.0001) and fetal chromosomal polymorphic mutation rate of 2.8% and 1.1% (P>0.5), respectively.
Maternal serum AFP and F-beta hCG levels in second trimester have important values in predicting fetal chromosomal diseases, and their detection may help reduce the birth defect rate and prevent abnormal pregnancy outcomes and complications.
探讨孕中期孕妇血清学检查筛查染色体疾病及异常妊娠的临床价值。
采用市售检测试剂盒检测孕中期(16 - 20周)孕妇血清甲胎蛋白(AFP)和游离β-人绒毛膜促性腺激素(F-βhCG),并结合孕妇年龄、孕周、体重等因素计算唐氏综合征风险。对高危孕妇行羊水或脐血穿刺进行胎儿染色体核型分析。将孕妇分为年龄≥35岁组和年龄<35岁组,以及唐氏综合征筛查高风险组和低风险组,进行检测结果及妊娠结局分析。
6000例接受产前筛查的孕妇中,552例被确定为唐氏综合征高危(9.2%),漏检1例,463例高危孕妇接受了羊水或脐血穿刺检查。发现27例染色体异常,14例建议终止妊娠,另13例发现其他染色体异常如多态性突变未建议终止妊娠。年龄≥35岁组和年龄<35岁组筛查阳性率分别为95.5%和8.2%(P<0.0001),胎儿染色体异常率分别为4.5%和2.9%(P>0.5)。高风险组和低风险组异常妊娠结局发生率分别为5.6%和0.05%(P<0.0001),妊娠并发症发生率分别为11.8%和3.7%(P<0.0001),胎儿染色体多态性突变率分别为2.8%和1.1%(P>0.5)。
孕中期孕妇血清AFP和F-βhCG水平对预测胎儿染色体疾病具有重要价值,检测有助于降低出生缺陷率,预防异常妊娠结局及并发症。