Ducarme G, Graesslin O, Alanio E, Bige V, Gaillard D, Gabriel R
Service de gynécologie-obstétrique, institut Mère-Enfant-Alix-de-Champagne, CHU de Reims, 45, rue Cognacq-Jay, 51092 Reims cedex, France.
Gynecol Obstet Fertil. 2005 Oct;33(10):750-4. doi: 10.1016/j.gyobfe.2005.07.031.
A prospective study of pregnancy outcome in fetuses with increased nuchal translucency above the 95th centile (group NT) or cystic hygroma (group CH) at 10 to 14 weeks of gestation was performed.
Maternal and fetal data (nuchal translucency, caryotype, pregnancy outcome) and infant follow-up of 223 fetuses with first trimester nuchal translucency thickness (183 NT and 40 CH) were analysed.
The measurement of nuchal translucency thickness shows a significant difference between group CH and NT (7.4+/-2.9 mm compared 3.7+/-0.8 mm). Chromosomal abnormalities were present in 55% (22/40) in group CH, with 9 cases/22 (40.9%) of Turner syndrome, compared with 14.2% (26/183) in group NT with trisomy 21 in 15 cases/26 (57.7%) (P<0.05). The rate of unfavourable outcome of pregnancy (spontaneous abortion, elective termination of pregnancy, serious structural anomalies) was 80% (32/40) in group CH compared with 18% (33/183) in group NT (P<0.05). In chromosomally normal pregnancies, the rate of fetus with no visible serious structural anomalies was 44.4% (8/18) in group CH compared with 93% (146/157) in group NT (P<0.05).
Our data show ultrasonographic evaluation of the fetal nuchal translucency thickness at the first trimester is actually indispensable. Neonatal outcome and malformation rate in fetuses with increased nuchal translucency or cystic hygroma are different, even with normal karyotype.
对妊娠10至14周时颈部半透明层厚度高于第95百分位数的胎儿（NT组）或囊性水瘤胎儿（CH组）的妊娠结局进行前瞻性研究。
分析了223例孕早期颈部半透明层厚度胎儿（183例NT组和40例CH组）的母体和胎儿数据（颈部半透明层、核型、妊娠结局）以及婴儿随访情况。
颈部半透明层厚度测量显示CH组和NT组之间存在显著差异（分别为7.4±2.9毫米和3.7±0.8毫米）。CH组中55%（22/40）存在染色体异常，其中9例/22例（40.9%）为特纳综合征，而NT组中14.2%（26/183）存在染色体异常，15例/26例（57.7%）为21三体综合征（P<0.05）。CH组妊娠不良结局（自然流产、选择性终止妊娠、严重结构异常）发生率为80%（32/40），而NT组为18%（33/183）（P<0.05）。在染色体正常的妊娠中，CH组无明显严重结构异常胎儿的发生率为44.4%（8/18），而NT组为93%（146/157）（P<0.05）。
我们的数据表明，孕早期对胎儿颈部半透明层厚度进行超声评估确实必不可少。颈部半透明层增厚或囊性水瘤胎儿的新生儿结局和畸形率不同，即使核型正常。
