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四川地区21 723例早孕期唐氏综合征筛查报告

Analysis of 21 723 Pregnant Women's First Trimester Screening for Down Syndrome in Sichuan Province

    摘要
  • 摘要:
      目的  比较分析采用不同筛查方案对四川地区早孕期孕妇进行唐氏综合征产前筛查的筛查效率，探寻早孕期高效的唐氏综合征筛查方案。
      方法  回顾性分析2011年1月至2017年12月于四川大学华西第二医院产前诊断中心接受早孕期血清学生化指标联合胎儿颈项透明层（NT）厚度筛查的单胎妊娠孕妇的结果。根据接受羊膜腔穿刺胎儿染色体检查的染色体结果及未接受羊膜腔穿刺的孕妇电话随访结果，了解胎儿染色体情况。比较分析孕妇年龄、NT厚度、血清学生化指标筛查、联合筛查这4种筛查方案对早孕期唐氏综合征的筛查效率。
      结果  符合纳入标准的21 723例孕妇中，确诊唐氏综合征33例，18-三体综合征19例，性染色体异常4例及其他染色体异常8例。早期联合筛查唐氏综合征检出率72.73%，假阳性率2.49%；18-三体综合征检出率73.68%，假阳性率0.39%。对唐氏综合征而言，当假阳性率为5%时，以孕妇预产期年龄为筛查指标时，检出率为15.15%；以NT厚度为筛查指标时，检出率为57.58%；以早孕期血清学生化指标作为筛查方案时，检出率为60.61%；以早孕期联合筛查作为筛查方案时，检出率为87.88%。
      结论  4种筛查方案中，早孕期联合筛查能够有效筛查出唐氏综合征胎儿，对其他染色体异常也有良好的筛查效果，是早孕期较好的产前筛查方案。

     

    Abstract:
      Objective  To compare the effect of different first-trimester screening programmes for Down syndrome in Sichuan Province.
      Methods  We retrospectively collected the data of singleton pregnancies that were screened by serum biochemistry markers combined with nuchal translucency screening tests in the first trimester in Prenatal Diagnosis Center of West China Second University Hospital of Sichuan University from January 2011 to December 2017. The fetal chromosome results were obtained by amniocentesis or by telephone follow-up. The screening effect of maternal age, nuchal translucency thickness, maternal serum biochemistry markers and combined screening in the first trimester were analyzed.
      Results  Among the 21 723 singleton pregnancies, 33 cases were diagnosed as Down syndrome, and 19 cases were diagnosed as trisomy 18 sex chromosome abnormalities were found in 4 cases, and other chromosome abnormalities were found in 8 cases. For the combined screening, the detection rate of Down syndrome was 72.73%, and the false positive rate was 2.49%; the detection rate of trisomy 18 syndrome was 73.68% with the false positive rate of 0.39%. With a 5% false positive rate, maternal age, nuchal translucency thickness, serum biochemistry markers and combined screening would respectively detect 15.15%, 57.58%, 60.61% and 87.88% of Down syndrome fetuses.
      Conclusion  Compared with the other three screening programmes, the combined screening can effectively screen fetuses with Down syndrome and other chromosomal abnormalities.

     

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