孕中期血清学筛查、超声、NIPT联合在胎儿染色体异常筛查中的价值

目的探讨孕中期血清学筛查中位数倍数(MoM)低值、超声、无创产前基因检测(NIPT)联合在胎儿染色体异常筛查中的应用价值。方法选择在我院行孕中期筛查的1068例单胎孕妇中筛选出需行羊水染色体核型分析检测的高危孕妇195例,以羊水染色体核型分析检测结果为金标准,分析血清游离绒毛膜促性腺激素β(β-hCG)和甲胎蛋白(AFP)MoM低值、超声、NIPT对胎儿染色体异常的筛查价值。结果195例孕妇行羊水染色体核型分析共检测出染色体异常18例,195例孕妇经超声筛查显示胎儿可能存在染色体异常77例,经NIPT筛查显示高风险24例,经血清学筛查检出AFP MoM值<0.4者64例,经血清学筛查检出游离β-hCG MoM值<0.25者69例。血清学筛查AFP和游离β-hCG MoM低值、超声、NIPT联合检查对胎儿染色体异常筛查价值明显优于各项单独检查(P<0.05)。结论孕中期血清学筛查AFP和游离β-hCG MoM低值、超声、NIPT联合检查对胎儿染色体异常具有较高的检出率,能够准确反映胎儿异常。

Application of Combined Examinations of Serological Screening,Ultrasound,NIPT for Chromosomal Disorder in Second-Trimester Pregnancy

Objective To investigate the values of combined examinations of multiple of median(MoM)of serum double screening,ultrasound,noninvasive prenatal genetic testing(NIPT)for chromosomal disorder in second-trimester pregnancy.Methods 195 high-risk pregnant women requiring amniotic fluid chromosome karyotype analysis were selected from 1068 singleton high-risk pregnant women underwent second trimester maternal screening in our hospital from.The diagnostic value of MoM of alpha-fetoprotein(AFP),MoM of human chorionic gonadotropinβ(β-hCG),ultrasound and NIPT for fetal chromosomal abnormalities was analyzed with the amniotic fluid chromosome karyotype test results as gold standard.Results Among 195 pregnant women,karyotype analysis confirmed 18 cases of chromosomal abnormalities,and ultrasound screening revealed that 77 fetuses might have chromosomal abnormalities.NIPT screening showed that 24 cases were at high risk.Serum double screening showed that 64 cases had MoM of AFP<0.4,and 69 cases had MoM ofβ-hCG<0.25.The diagnostic value of combined examinations of MoM of serum double screening,ultrasound,NIPT for chromosomal disorder in second-trimester pregnancy was significantly better than that of single examinations(P<0.05).Conclusions The combined examinations of MoM of serum double screening,ultrasound,NIPT in second-trimester pregnancy have a high detection rate of fetal chromosomal abnormalities,which can accurately reflect fetal abnormalities.