Graesslin Olivier, Derniaux Emilie, Alanio Elisabeth, Gaillard Dominique, Vitry Fabien, Quéreux Christian, Ducarme Guillaume
Department of Obstetrics and Gynecology, Institut Mère-Enfant Alix de Champagne, CHU Reims, Reims, France.
Acta Obstet Gynecol Scand. 2007;86(12):1442-6. doi: 10.1080/00016340701644843. Epub 2007 Sep 6.
The aim of this study was to determine the course of pregnancy and the neonatal outcome of fetuses with cystic hygroma diagnosed at 10-14 weeks' gestation.
Maternal and fetal data (nuchal translucency, karyotype, pregnancy outcome) in cases of fetal cystic hygroma, admitted or referred to our antenatal diagnostic centre, were prospectively entered into a computer database. Paediatric outcome was analysed when relevant.
Some 72 fetuses had cystic hygroma. The mean size of the cystic hygroma was 7.9 mm. Chromosomal abnormalities were present in 52.7% of cases (38/72), including 14 cases (36.8%) of Down syndrome. A total of 34 chromosomally normal pregnancies gave rise to 18 live births (52.9%), with no visible serious structural abnormalities. The outcome of pregnancy was unfavourable (miscarriage, elective termination, serious structural abnormalities) in 77.7% of cases (56/72). The 18 live-born infants were followed up for 17-98 months. Sixteen infants developed normally, while 1 developed Noonan's syndrome and 1 had a urinary tract abnormality (pyelo-ureteral junction; PUJ).
These data suggest that the prognosis of fetal cystic hygroma detected during the first trimester is poor, and show that sonographic evaluation of fetal nuchal translucency thickness in the first trimester is crucial.
本研究旨在确定妊娠10 - 14周时诊断出的胎儿囊状水瘤的妊娠过程及新生儿结局。
前瞻性地将入住或转诊至我们产前诊断中心的胎儿囊状水瘤病例的母胎数据（颈项透明层、核型、妊娠结局）录入计算机数据库。必要时分析儿科结局。
约72例胎儿患有囊状水瘤。囊状水瘤的平均大小为7.9毫米。52.7%的病例（38/72）存在染色体异常，其中14例（36.8%）为唐氏综合征。34例染色体正常的妊娠共分娩出18例活产儿（52.9%），无明显严重结构异常。77.7%的病例（56/72）妊娠结局不佳（流产、选择性终止妊娠、严重结构异常）。对18例活产儿进行了17 - 98个月的随访。16例婴儿发育正常，1例患努南综合征，1例有泌尿系统异常（肾盂输尿管连接部；PUJ）。
这些数据表明孕早期检测到的胎儿囊状水瘤预后不良，并表明孕早期超声评估胎儿颈项透明层厚度至关重要。
