Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of California San Francisco, San Francisco, CA, USA.
Prenat Diagn. 2017 Aug;37(8):750-753. doi: 10.1002/pd.5076. Epub 2017 Jun 28.
The aim of this study was to report the prevalence of Noonan syndrome (NS) in a cohort of fetuses that presented with increased nuchal translucency (NT) thickness in the first trimester of pregnancy.
This is a retrospective chart review.
(1) first trimester NT measurement ≥3 mm, (2) normal karyotype by either a CVS or an amniocentesis procedure, and (3) prenatal molecular genetic testing for NS completed. Results with known pathogenic variants were considered positive, while those with variants of unknown clinical significance, or with no variants, were considered negative.
A total of 804 fetuses had an NT measurement of ≥3 mm, with a median NT thickness of 3.6 mm. Of these, 302 had karyotyping by CVS or amniocentesis, 200 (66.23%) with normal results. Of fetuses with a normal karyotype, 39 with a median NT thickness of 4.0 mm had a NS gene sequencing panel done, and 161 fetuses with a mean NT thickness of 4.3 mm were not tested for NS (p = 0.05). Of the 39 fetuses who were tested for NS, four (10.3%) had variants consistent with this diagnosis.
In euploid fetuses, increased NT is associated with a 10% risk of NS. © 2017 John Wiley & Sons, Ltd.
本研究旨在报告在妊娠早期颈项透明层（NT）增厚的胎儿队列中，努南综合征（NS）的患病率。
这是一项回顾性图表审查。
（1） 孕早期 NT 测量值≥3mm；（2） 通过 CVS 或羊膜穿刺术获得正常核型；（3） 完成 NS 的产前分子遗传学检测。已知致病性变异结果被认为是阳性，而那些具有未知临床意义的变异或无变异的结果被认为是阴性。
共有 804 例胎儿 NT 测量值≥3mm，中位数为 3.6mm。其中，302 例行 CVS 或羊膜穿刺术进行核型分析，200 例（66.23%）结果正常。在核型正常的胎儿中，39 例 NT 中位数为 4.0mm 的胎儿进行了 NS 基因测序，161 例 NT 均值为 4.3mm 的胎儿未进行 NS 检测（p=0.05）。在接受 NS 检测的 39 例胎儿中，4 例（10.3%）存在符合该诊断的变异。
在非整倍体胎儿中，NT 增加与 NS 的 10%风险相关。© 2017 约翰威立父子公司。
