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中华产科急救电子杂志

中华产科急救电子杂志 ›› 2019, Vol. 08 ›› Issue (04) : 247 -250. doi: 10.3877/cma.j.issn.2095-3259.2019.04.012

所属专题： 文献；

论著

胎儿颈项透明层增厚和静脉导管血流频谱异常与胎儿染色体异常的关系
董涛威1,†(), 张学真1   
  1. 1. 510180　广州市妇女儿童医疗中心妇产科
  • 收稿日期:2019-06-18 出版日期:2019-11-18
  • 通信作者: 董涛威

The relationship between nuchal translucency thickening, abnormal blood flow spectrum of venous catheter and fetal chromosomal abnormalities

Taowei Dong1,†(), Xuezhen Zhang1   

  1. 1. Department of Gynaecology and Obstetrics Guangzhou Women and Children′s Medical Center, Guangzhou 510180, China
  • Received:2019-06-18 Published:2019-11-18
  • Corresponding author: Taowei Dong
  • About author:
    Corresponding author: Dong Taowei, Email:
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董涛威, 张学真. 胎儿颈项透明层增厚和静脉导管血流频谱异常与胎儿染色体异常的关系[J]. 中华产科急救电子杂志, 2019, 08(04): 247-250.

Taowei Dong, Xuezhen Zhang. The relationship between nuchal translucency thickening, abnormal blood flow spectrum of venous catheter and fetal chromosomal abnormalities[J]. Chinese Journal of Obstetric Emergency(Electronic Edition), 2019, 08(04): 247-250.

目的

探讨胎儿颈项透明层(nuchal translucency, NT)超声检查在早孕期胎儿筛查中的应用价值。

方法

收集104例于广州市妇女儿童医疗中心诊断NT增厚的孕妇的染色体核型分析资料，回顾性分析胎儿NT增厚、静脉导管血流频谱异常与胎儿染色体异常的关系。

结果

(1)9980例孕妇中，NT异常增厚的胎儿共104例，占1.0%，颈项透明层厚度为(3.7±1.2)mm；(2)104例NT异常增厚的胎儿中，有28例胎儿染色体核型异常，包括染色体数目异常22例，结构异常6例，其中前3位为21-三体综合征、18-三体综合征和47，XXX；(3)随着NT厚度的增加，染色体异常的检出率相应增加；(4)NT增厚及静脉导管血流频谱正常预测染色体异常的阳性预测值是20.93%，NT增厚及静脉导管血流频谱异常的阳性预测值是55.56%，其差异具有统计学意义( χ2＝7.07，P<0.01)。

结论

在早孕期进行胎儿NT超声检查，NT增厚及静脉导管血流频谱异常联合筛查更能有效筛查出染色体核型异常的高危胎儿。

关键词: 颈项透明层厚度, 静脉导管血流频谱, 染色体畸变
Objective

To explore the application value of fetal NT ultrasonography in fetal screening during early pregnancy.

Methods

We retrospectively analysed the outcomes of chromosome karyotype in 104 fetuses with increased nuchal translucency by invasive prenatal diagnosis in Guangzhou women and children′s medical center. To explore the relationship between abnormal NT thickness, abnormal blood flow spectrum of ducts venosus and chromosomal abnormalities.

Results

(1)Among 9980 pregnant women, there were 104 fetuses (about 1.0%) with abnormal NT thickness, the thickness of nuchal translucency was (3.7±1.2)mm. (2)Among 104 fetuses with abnormal NT thickness, 28 fetuses had abnormal chromosome karyotype, including 22 cases of chromosomal number abnormalities and 6 cases of structural abnormalities.The top three were trisomy 21, trisomy 18 and 47, XXX. (3)With the increase of NT thickness, the detection rate of chromosomal abnormalities increased accordingly.(4)The positive predictive values of NT thickening and normal blood flow spectrum of ductus venosus for chromosomal abnormalities were 20.93%. The positive predictive values of NT thickening and abnormal blood flow spectrum of ductus venosus for chromosomal abnormalities were 55.56%, the difference was statistically significant.

Conclusion

It is more effective to screen high-risk fetuses with abnormal chromosome karyotype by fetal NT ultrasonography, NT thickening and abnormal venous blood flow spectrum in early pregnancy.

Key words: Transparent layer thickness, Venous blood flow spectrum, Chromosome aberrations
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