To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities. The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis and chromosome copy number variation detection to verify the NIPT results and analyze chromosome abnormalities. Women at low risk and with no other abnormal results continued with their pregnancies. Among the 6239 pregnant women who received NIPT, there were 15 cases of chromosomal deletion (12 cases confirmed by amniocentesis), 16 cases of chromosomal duplication (9 cases confirmed by amniocentesis), and 17 cases of sex chromosome abnormalities (11 cases confirmed by amniocentesis). Of these cases, 32 were finally confirmed by amniotic fluid cell karyotype analysis. The coincidence rate was 66.7% (32/48). There were no abnormalities found for the remaining low risk pregnant women during follow-up. NIPT has good application value in predicting fetal chromosomal deletion, duplication, and sex chromosome abnormalities. It can improve the detection rate of fetal chromosomal abnormalities, but further prenatal diagnosis is needed.

中文翻译：

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NIPT对罕见胎儿染色体异常的应用价值。

探讨无创产前检测（NIPT）对胎儿染色体缺失、重复和性染色体异常的临床价值。该研究纳入了 2017 年 12 月至 2019 年 6 月期间接受 NIPT 的 6239 名早孕和中孕单胎孕妇。对于 NIPT 提示存在缺失、重复和性染色体异常高风险的孕妇，建议进行羊膜穿刺检查核型分析和染色体拷贝数变异检测，以验证NIPT结果并分析染色体异常。处于低风险且没有其他异常结果的妇女继续怀孕。6239名接受NIPT的孕妇中，有15例染色体缺失（12例经羊膜穿刺证实），染色体重复16例（羊膜穿刺证实9例），性染色体异常17例（羊膜穿刺证实11例）。其中32例最终通过羊水细胞核型分析得到证实。符合率为66.7%（32/48）。其余低危孕妇随访未见异常。NIPT在预测胎儿染色体缺失、重复和性染色体异常方面具有很好的应用价值。可提高胎儿染色体异常的检出率，但需进一步产前诊断。其余低危孕妇随访未见异常。NIPT在预测胎儿染色体缺失、重复和性染色体异常方面具有很好的应用价值。可提高胎儿染色体异常的检出率，但需进一步产前诊断。其余低危孕妇随访未见异常。NIPT在预测胎儿染色体缺失、重复和性染色体异常方面具有很好的应用价值。可提高胎儿染色体异常的检出率，但需进一步产前诊断。