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目的评价孕早、中期孕妇血清学产前筛查在诊断胎儿唐氏综合征(DS)和18-三体综合征以及神经管畸形(NTD)患儿中的作用。方法应用时间分辨荧光免疫技术,采用孕早、中期联合序贯产前筛查方案对每位孕妇在孕早期(11-13w)和孕中期(14-21w)连续进行产前筛查,对筛查出的高风险孕妇经优生遗传咨询,行羊水穿刺和产前超声诊断。结果在筛查的2137例孕妇中,检出高风险199例,筛查阳性率为6.31%,其中唐氏综合征高风险孕妇162例,阳性率为7.58%,孕早期筛查阳性率为7.98%(34/426),孕中期筛查阳性率为7.48%(128/1711),孕早、中期连续筛查阳性率为11.36%(15/132),孕早、中期连续筛查均为高危者阳性率为3.78%(5/132);18-三体综合征高风险孕妇17例,阳性率为0.8%;神经管畸形高危孕妇20例,阳性率为0.94%。自愿接受羊水穿刺的高风险孕妇中,经羊水胎儿细胞染色体核型分析确诊唐氏综合征2例,18-三体综合征1例,均在产前终止妊娠。此外,有1例21-三体综合征漏诊病例,孕中期筛查结果为临界风险。神经管畸形高危孕妇,经超声产前诊断,检出无脑儿1例,脊柱裂1例。高风险孕妇与临界风险孕妇不良妊娠结局发生率无差异。通过对筛查孕妇的随访共发现出生缺陷30例。结论通过对2137例孕早、中期孕妇产前筛查结果和随访情况分析,认为孕早、中期联合序贯产前筛查结合产前诊断具有良好的临床有效性,可有效减少染色体病和神经管畸形缺陷儿的出生,是降低出生缺陷有效的群体筛查方法,值得推广。对孕早、中期联合产前筛查中,任何一期提示高危或临界值风险孕妇应结合无创产前DNA检测(NIPT)进一步进行产前诊断,防止漏诊。
Objective To evaluate the role of serological prenatal screening in pregnant women with early pregnancy and midterm pregnancies in the diagnosis of children with Down's syndrome (DS), 18-trisomy syndrome and neural tube defects (NTD). Methods Using time-resolved fluorescence immunoassay, prenatal screening was conducted in early pregnancy and in the second trimester. Pregnant women were continuously prenared during the first trimester (11-13w) and second trimester (14-21w) Detected high-risk pregnant women by eugenics genetic counseling, amniocentesis and prenatal ultrasound diagnosis. Results Among the 2137 pregnant women screened, there were 199 cases of high risk, the positive rate of screening was 6.31%, of which 162 cases were high risk pregnant women with Down's syndrome, the positive rate was 7.58%. The screening positive rate in early pregnancy was 7.98 % (34/426). The positive rate of screening in the second trimester was 7.48% (128/1711). The positive rate of continuous screening in early and middle trimester was 11.36% (15/132) The positive rate was 3.78% (5/132). The high risk pregnant women with 18-trisomy syndrome were 17 cases, the positive rate was 0.8%. The high risk pregnant women with neural tube defects were 20 cases, the positive rate was 0.94%. Among high-risk pregnant women who voluntarily received amniocentesis, 2 cases of Down syndrome and 1 case of 18-trisomy syndrome were confirmed by karyotype analysis of fetal cells of fetal amniotic fluid, all of which were terminated at prenatal period. In addition, there is a case of missed diagnosis of trisomy 21 cases, the second trimester screening results as a critical risk. High-risk neural tube defects in pregnant women, prenatal diagnosis by ultrasound, no brain anemia detected in 1 case, 1 case of spina bifida. There was no difference in the incidence of adverse pregnancy outcomes between high-risk and critical risk pregnant women. Thirty cases of birth defects were found through follow-up of screening pregnant women. Conclusion Through the analysis of prenatal screening results and follow-up of 2137 pregnant women in the first and second trimester, it is considered that combined prenatal screening combined with prenatal screening in early pregnancy and mid-term has good clinical efficacy and can effectively reduce chromosome diseases and nerves The birth of a child with deformity defects is an effective group screening method to reduce birth defects and is worth promoting. Pregnancy early, mid-term joint prenatal screening, any period of high risk or critical risk prompted pregnant women should be combined with noninvasive prenatal DNA testing (NIPT) for further prenatal diagnosis, to prevent missed diagnosis.