Lajeunesse C, Stadler A, Trombert B, Varlet M N, Patural H, Prieur F, Chêne G
Département de gynécologie-obstétrique & médecine de la reproduction, université de Saint-Étienne, Jean-Monnet, CHU de Saint-Étienne, avenue Albert-Raimond, 42023 Saint-Étienne, France.
Département de santé publique, université de Saint-Étienne, Jean-Monnet, CHU de Saint-Étienne, 42023 Saint-Étienne, France.
J Gynecol Obstet Biol Reprod (Paris). 2014 Jun;43(6):455-62. doi: 10.1016/j.jgyn.2013.04.005. Epub 2013 Jun 6.
To describe the ultrasonographic (US) and fetal karyotyping data of fetuses with cystic hygroma diagnosed in the first trimester.
PATIENTS & METHODS: Maternal and fetal data of 69 consecutive fetal cystic hygroma were analysed between 2002 and 2009.
The mean size of the cystic hygroma was 6.3 mm ± 2.4 mm. US abnormalities were present in 54% of cases (37/69) (essentially hydrops fetalis in 45%), with an unfavourable prognosis (P=0.006). Chromosomal abnormalities were present in 53% of cases (36/68) (including 44% of Down syndrome). The rate of unfavourable outcome of pregnancy was 71% of cases (49/69) and was associated with the oldest mothers (P=0.011). In the chromosomally normal pregnancies, there were 59% (19/32) fetus with no apparently abnormalities. Among these 19 children, 13 have been followed up until an average age of 5 years and a half, the infant development was strictly normal.
The current results suggest to look for the poor prognosis data: nuchal thickness superior to 6 to 6,5 mm, presence of a hydrops fetalis and/or US abnormalities, fetal karyotyping and/or US evolution of cystic hygroma.
描述孕早期诊断为胎儿颈部水囊瘤的超声（US）及胎儿核型分析数据。
分析2002年至2009年间连续69例胎儿颈部水囊瘤的母婴数据。
颈部水囊瘤平均大小为6.3毫米±2.4毫米。54%的病例（37/69）存在超声异常（45%主要为胎儿水肿），预后不良（P = 0.006）。53%的病例（36/68）存在染色体异常（包括44%的唐氏综合征）。妊娠不良结局发生率为71%（49/69），且与产妇年龄较大有关（P = 0.011）。在染色体正常的妊娠中，59%（19/32）的胎儿无明显异常。在这19名儿童中，13名儿童随访至平均年龄5岁半，婴儿发育完全正常。
目前的结果提示应寻找预后不良的数据：颈项透明层厚度超过6至6.5毫米、存在胎儿水肿和/或超声异常、胎儿核型分析和/或颈部水囊瘤的超声演变情况。
