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目的探索产前筛查技术与无创产前DNA检测技术的兼容性与共存性,期望通过摸索联合筛查方案来提高产前筛查准确性和检出率。方法对吉林省各地区来吉林省妇幼保健院进行产前检查的17 974例孕妇通过系统的孕期检查,包括孕中期血清学筛查以及无创产前DNA筛查,以及最终对有产前诊断指征的孕妇建议通过羊水染色体核型分析并进行后续随访追踪。结果17 585例进行唐氏筛查孕妇中,筛查出高危孕妇1 133例,临界风险2 272例,其中216例高风险孕妇选择进行无创产前DNA检测;388例临界风险孕妇选择进行无创产前DNA检测,28例低风险孕妇选择进行无创产前DNA检测;389例孕妇没有进行唐氏筛查直接选择无创产前DNA检测。NIPT筛查出21-三体高风险4例(其中2例为血清学筛查结果高危,1例血清学筛查结果临界,1例未做血清学筛查),18-三体高风险1例(血清学筛查结果临界)。对NIPT高风险5例孕妇建议行羊水染色体产前诊断,羊水穿刺产前诊断检查确诊21-三体综合征4例,18-三体综合征1例,符合率100.00%。对其妊娠结局进行随访,没有发现假阴性病例。结论血清学产前筛查联合无创产前DNA检测可提高常见染色体非整倍体疾病的检出效率,无创产前DNA检测减少了唐氏筛查技术的不准确性以及侵入性的产前诊断技术对胎儿和孕妇的创伤,是今后降低出生缺陷儿发生率的重要技术手段。
Objective To explore the compatibility and coexistence of prenatal screening technology and noninvasive prenatal DNA testing technology, expecting to improve the accuracy and detection rate of prenatal screening by exploring joint screening programs. Methods A total of 17 974 pregnant women who came to Jilin MCH in Jilin Province during the prenatal period were systematically checked during pregnancy, including the second trimester serological screening and non-invasive prenatal DNA screening. Finally, Maternal signs of recommended amniotic fluid chromosome karyotype analysis and follow-up follow-up. Results A total of 17 585 pregnant women undergoing Down’s screening were screened out, among whom 1,133 were high risk pregnancies. The critical risk was 2 272 cases. Among them, 216 cases of high risk pregnant women were selected for noninvasive prenatal DNA testing. 388 cases of critical risk pregnant women chose noninvasive Pre-DNA testing, 28 cases of low-risk pregnant women choose noninvasive prenatal DNA testing; 389 pregnant women without Down’s screening direct selection of non-invasive prenatal DNA testing. NIPT screened 21 cases of high risk of trisomy 4 cases (2 cases of high risk for serological screening results, 1 case of critical serological screening results, 1 case did not do serological screening), 18 cases of trisomy 18 cases of high risk Serological screening results critical). Prenatal diagnosis of amniotic fluid chromosomes in 5 pregnant women with high risk of NIPT was recommended. Prenatal diagnosis of amniocentesis confirmed 4 cases of 21-trisomy syndrome and 1 case of 18-trisomy syndrome. The coincidence rate was 100.00%. Follow-up of their pregnancy outcome, did not find false negative cases. Conclusions Serological prenatal screening combined with noninvasive prenatal DNA testing can improve the detection efficiency of common chromosomal aneuploidy diseases. Noninvasive prenatal DNA testing reduces Down’s screening inaccuracy and invasive prenatal diagnosis Trauma to the fetus and pregnant women by technology is an important technical means to reduce the incidence of birth defects in the future.