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目的探讨不同产前诊断指征在唐氏综合征诊断中的价值。方法 14 433例有介入性产前诊断指征的孕妇经腹穿刺取材行染色体检查,对核型为唐氏综合征的病例进行临床指征分析。结果 14 433病例中,14 394例成功获得染色体核型(99.7%),唐氏综合征检出率1.3%(182/14 394)。182例中,产前诊断指征检出率合并指征组2.5%(39/1 579)和超声筛查异常组2.0%(39/1 936)显著高于产前血清学筛查高风险组1.1%(68/6 120)、高龄组0.8%(33/3 886)和有夫妻染色体异常携带或不良孕产史组0.3%(3/873)。合并指征中以合并3项产前诊断指征者检出率5.1%(2/39)最高,超声筛查异常组有74.4%(29/39)合并两项或两项以上异常,高龄组以≥42岁检出率2.7%(8/301)最高。结论超声筛查异常、高龄、血清学筛查高风险和有夫妻染色体异常携带或不良孕产史,是介入性产前诊断的重要指征,对符合以上指征的孕妇行产前诊断,可减少唐氏儿的出生,提高出生人口质量。
Objective To investigate the value of different prenatal diagnosis indications in the diagnosis of Down’s syndrome. Methods 14 433 pregnant women who had indications of interventional prenatal diagnosis were selected by abdominal puncture for chromosomal examination. The clinical indications were analyzed in cases of Down syndrome with karyotype. Results Among 14 433 cases, 14 394 cases successfully obtained chromosome karyotype (99.7%) and Down syndrome 1.3% (182/14 394). Among 182 cases, 2.5% (39/1 579) in the indications of prenatal diagnosis and 2.0% (39/1 936) in the abnormal ultrasound screening group were significantly higher than those in the high risk group of prenatal serological screening 1.1% (68/6 120), 0.8% (33/3 886) in the advanced age group and 0.3% (3/873) in the history of unwanted gestational age with or without chromosomal abnormalities. In the combined indications, the detection rate of the three prenatal diagnosis indications was the highest (5.1% (2/39)). In the ultrasound screening group, 74.4% (29/39) had two or more abnormalities, To ≥ 42-year-old detection rate of 2.7% (8/301) the highest. Conclusions Ultrasound screening abnormalities, advanced age, serological screening of high-risk and couples with chromosomal abnormalities or unwanted birth history, is an important indicator of interventional prenatal diagnosis, prenatal diagnosis of pregnant women who meet the above indications, Reduce Down’s birth and improve the quality of the birth population.