Grossman Tracy B, Bodenlos Kimberly L, Chasen Stephen T
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Weill Cornell Medical College, New York, NY, USA.
J Matern Fetal Neonatal Med. 2020 Sep;33(18):3062-3067. doi: 10.1080/14767058.2019.1568405. Epub 2019 Jan 22.
To determine the proportion of genetic abnormalities that could be identified by cell-free DNA screening in pregnancies with an abnormal nuchal translucency. 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 <35 years). Chi-square analysis, Fisher's exact test, and Mann-Whitney were used for statistical comparison. One hundred ten patients were included, 60 had genetic abnormalities (54.5%), with 44 (73.3%) detectable on cell-free DNA screening and 16 (26.7%) not. In those with nuchal translucency ≥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%; = .005). 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.
确定在颈项透明层异常的妊娠中，通过游离DNA筛查能够识别的基因异常比例。2015年至2017年，超声检查发现颈项透明层≥3.0毫米的妊娠被纳入研究。纳入有基因检测结果的妊娠，无论是否进行了游离DNA筛查。根据颈项透明层值（3.0 - 3.4毫米；≥3.5毫米）和产妇年龄（≥35岁与<35岁），对游离DNA筛查可检测到的基因异常比例与不可检测到的比例进行比较。采用卡方分析、费舍尔精确检验和曼-惠特尼检验进行统计学比较。共纳入110例患者，60例有基因异常（54.5%），其中44例（73.3%）可通过游离DNA筛查检测到，16例（26.7%）未检测到。在颈项透明层≥3.5毫米的患者中，56例异常中只有40例（71.4%）可通过游离DNA筛查检测到。对于年龄≥35岁且颈项透明层≥3.5毫米的女性，游离DNA筛查可识别31例异常中的27例，但对于年轻女性，只能识别25例基因异常中的13例（87.1%对52.0%；P = 0.005）。颈项透明层≥3.5毫米的患者中，相当一部分异常无法通过游离DNA检测到，尤其是年轻女性。
