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首页> 外文期刊>The journal of maternal-fetal & neonatal medicine >Abnormal nuchal translucency: residual risk with normal cell-free DNA screening
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Abnormal nuchal translucency: residual risk with normal cell-free DNA screening

机译：异常Nuchal半透明：无细胞无细胞DNA筛选的残余风险

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摘要

Objective:To determine the proportion of genetic abnormalities that could be identified by cell-free DNA screening in pregnancies with an abnormal nuchal translucency. Methods:From 2015-2017, pregnancies with nuchal translucency >= 3.0 mm on ultrasounds were identified. Pregnancies with genetic testing results were included, whether or not cell-free DNA screening was performed. Comparisons of the proportion of genetic abnormalities detectable on cell-free DNA screening versus not detectable were made based on nuchal translucency values (3.0-3.4 mm; >= 3.5 mm) and maternal age (>= 35 versus = 3.5 mm, only 40 of 56 (71.4%) of abnormalities could be detected by cell-free DNA screening. Cell-free DNA screening could identify 27 of 31 abnormalities with nuchal translucency >= 3.5 mm in women >= 35 years but could identify only 13 of 25 genetic abnormalities in younger women (87.1 versus 52.0%;p = .005). Conclusion:A significant proportion of abnormalities in those with nuchal translucency >= 3.5 mm would not be detected by cell-free DNA, especially in younger women.
机译：目的：确定遗传异常的比例，可通过异常颈部半透明的妊娠中的无细胞DNA筛选鉴定。方法：从2015-2017起，鉴定了颈际半过度术> = 3.0 mm的妊娠。包括遗传测试结果的怀孕，无论是否进行无细胞DNA筛选。基于Nuchal半透明值（3.0-3.4mm;> = 3.5mm）和母体年龄（> = 35与= 3.5 mm，仅制造可检测到的无细胞DNA筛查的遗传异常与未检测到的遗传异常的比较可以通过无细胞DNA筛选检测56（71.4％）异常。无细胞DNA筛选可以鉴定31种肾半角癌的27个异常> = 3.5mm> = 35岁，但可以识别25个遗传异常中的13个遗传异常在较年轻的女性（87.1与52.0％; P = .005）。结论：无细胞DNA不会检测到Nuchal半透明= 3.5mm的大量异常比例，特别是在较年轻的女性中。

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