Bilardo C M, Pajkrt E, de Graaf I, Mol B W, Bleker O P
Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, The Netherlands.
Ultrasound Obstet Gynecol. 1998 Jun;11(6):401-6. doi: 10.1046/j.1469-0705.1998.11060401.x.
The aim of this study was to examine the relationship between nuchal translucency measurements and outcome of pregnancy with special regard to fetuses with an enlarged nuchal translucency and a normal karyotype. Fetal nuchal translucency measurements were performed on consecutive mothers attending the prenatal diagnosis center of our hospital. A complete follow-up was obtained in 88.4% of the cases. Of the 74 fetuses (4.4%) with an enlarged nuchal translucency (> or = 3 mm), 25 (33.8%) had an abnormal karyotype. Two pregnancies ended in a spontaneous abortion before karyotyping was performed. In the remaining 47 eukaryotic fetuses with enlarged nuchal translucency, five (10.6%) had a structural anomaly, two were affected by genetic syndromes (4.2%) and an additional four fetuses (8.5%) were affected by a single-gene disorder. A spontaneous abortion or an intrauterine death occurred in 6.4% and in 2.1% of these fetuses, respectively. The total incidence of an unfavorable outcome in the group of chromosomally normal fetuses with enlarged nuchal translucency was 32%. In contrast, in the group with a normal nuchal translucency (< 3 mm), the incidence of an unfavorable outcome was 7.5%. There is a strong association between enlarged nuchal translucency measurements and congenital (structural and genetic) abnormalities, as assessed by receiver operator characteristic analysis. This may represent, in fetuses with a normal karyotype, a non-specific sign of a disturbance in the developmental process. In these cases, detailed ultrasound surveillance is recommended.
本研究的目的是探讨颈部半透明层测量值与妊娠结局之间的关系，尤其关注颈部半透明层增厚且核型正常的胎儿。对我院产前诊断中心连续就诊的孕妇进行胎儿颈部半透明层测量。88.4%的病例获得了完整的随访。在74例（4.4%）颈部半透明层增厚（≥3mm）的胎儿中，25例（33.8%）核型异常。2例妊娠在进行核型分析前自然流产。在其余47例颈部半透明层增厚的真核胎儿中，5例（10.6%）有结构异常，2例受遗传综合征影响（4.2%），另有4例胎儿（8.5%）受单基因疾病影响。这些胎儿中分别有6.4%和2.1%发生自然流产或宫内死亡。颈部半透明层增厚且染色体正常的胎儿组中不良结局的总发生率为32%。相比之下，颈部半透明层正常（<3mm）的组中不良结局的发生率为7.5%。通过受试者工作特征分析评估，颈部半透明层增厚测量值与先天性（结构和遗传）异常之间存在密切关联。在核型正常的胎儿中，这可能代表发育过程中紊乱的非特异性征象。在这些情况下，建议进行详细的超声监测。
