孕妇血清甲胎蛋白、人绒毛膜促性腺激素β亚单位、妊娠相关血浆蛋白A联合筛查出生缺陷的研究

Study on Maternal Serum AFP, β-hCG and PAPP-A as Predictors for Screening Birth Deficiency

目的 探讨孕妇血清甲胎蛋白 (alpha fetoprotein,AFP)、绒毛膜促性腺激素β亚单位(human chorionic gonadotrop(h) in- beta subunit,β- h CG)、妊娠相关血浆蛋白 A(pregnancy- associat-ed plasma protein- A ,PAPP- A)联合筛查出生缺陷的临床价值。 方法 利用化学发光法测定孕妇血清 AFP、β- h CG,酶联免疫法测定血清 PAPP- A;B超确诊胎儿体格异常 ;羊水和或胎儿脐血确诊染色体、基因异常。 结果 1999年～ 2 0 0 0年筛查并全程追踪 5 98例孕妇 ,发现出生缺陷 37例 ,其中染色体异常 19例 (占 5 1.35 % ) ,染色体异常合并畸形 3例 (占 8.11% ) ,畸形 11例 (占 2 9.73% ) ,基因缺陷4例 (占 10 .81% )。 37例异常胎儿中治疗性引产 19例 ,自然流产 1例 ,异常胎儿产前阻断率为5 4.0 5 %。β- h CG>2 .4M、PAPP- A <0 .43M、AFP>2 .0 M、AFP<0 .6 M,筛查胎儿出生缺陷率分别为2 3.5 3%、19.0 5 %、12 .35 %、9.0 9% ,与β- h CG、AFP、PAPP- A正常值组筛查胎儿出生缺陷率 0 .5 5 %比较差异有显著性 (P<0 .0 0 5 )。 结论 孕妇血清 AFP、β- h CG、PAPP- A联合检测 ,不仅能筛查胎儿染色体数目和结构异常 。

Objective To examine the value of maternal serum β human chorionic gonadotrophin (β-hCG), pregnancy associated plasma protein A (PAPP-A) and alpha-fetoprotein(AFP) as predictor for screening birth deficiency. Methods The maternal serum β-hCG,PAPP-A and AFP of 598 pregnant women were measured at 6~35 weeks of gestation. All positive cases were ascertained by ultrasound, amniotic fluid or umbilical cord blood and followed up during the pregnancy. Results Thirty-seven cases of fetal abnormalities were found in 598 pregnant women. The positive rate of fetal abnormalities were 23.53%, 19.05%, 12.35% and 9.09% according to β-hCG>2.4M, PAPP-A<0.43M, AFP>2.0M and AFP<0.6M group respectively. The positive rate was higher in the abnormal screening group than that in the normal group (P<0.005). Conclusions The combined detection of AFP, β-hCG and PAPP-A in the serum of pregnant women can not only screen the abnormal number and the structure of the fetal chromosome, but also predict the gene dificiencies and visceral abnormalities of fetus.