Division of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.
Int J Gynaecol Obstet. 2019 Jun;145(3):319-323. doi: 10.1002/ijgo.12808. Epub 2019 Apr 5.
To assess the value of increased nuchal translucency (NT) at first-trimester screening (FTS) despite the superiority of noninvasive prenatal testing with cell-free DNA (cfDNA) for the detection of fetal aneuploidies.
Retrospective analysis of all FTS data from 2005 to 2015 in our department. Only cases with increased NT and euploid karyotype were considered eligible for inclusion. Abnormal findings, diagnostic work-up, and perinatal outcomes were assessed.
Of 18 084 FTS results, 460 (2.5%) showed increased fetal NT, of which 242 (52.6%) underwent invasive karyotyping and 179 (74.0%) had an aneuploidy. Of the remaining 63 cases, 61 (96.8%) showed an additional sonographic finding at FTS and25 (78.1%) had a major anomaly at the second trimester organ scan. The outcome was termination of pregnancy in 28 (44.4%) cases, fetal demise in 5 (7.9%), delivery of an infant with malformation in 21 (33.3%), and delivery of a healthy infant in 7 (11.1%) cases.
All cases with increased NT would have been detected by cfDNA or by a major sonographic anomaly not later than the second trimester. Routine use of cfDNA, a basic sonogram, and an organ scan could reduce unnecessary work-up and anxiety.
评估在第一孕期筛查（FTS）时即使使用无细胞 DNA（cfDNA）进行非侵入性产前检测对于检测胎儿非整倍体具有优越性的情况下，颈项透明层（NT）增加的价值。
对我们部门 2005 年至 2015 年所有 FTS 数据进行回顾性分析。仅考虑 NT 增加且核型正常的病例符合纳入标准。评估异常发现、诊断性检查和围产儿结局。
在 18 084 例 FTS 结果中，460 例（2.5%）显示胎儿 NT 增加，其中 242 例（52.6%）进行了侵袭性核型分析，179 例（74.0%）存在非整倍体。在其余的 63 例中，61 例（96.8%）在 FTS 时发现了额外的超声发现，25 例（78.1%）在第二次孕期器官扫描时存在主要异常。28 例（44.4%）终止妊娠，5 例（7.9%）胎儿死亡，21 例（33.3%）分娩畸形儿，7 例（11.1%）分娩健康婴儿。
所有 NT 增加的病例通过 cfDNA 或第二次孕期的主要超声异常均可更早地被检测到。常规使用 cfDNA、基本超声和器官扫描可以减少不必要的检查和焦虑。
