Bernard P, Chabaud J J, Le Guern H, Le Bris M J, Boog G
Service de Gynécologie-Obstétrique, CHRU, Brest.
J Gynecol Obstet Biol Reprod (Paris). 1991;20(4):487-95.
The authors report a series of 42 cases of cystic hygroma of the fetal neck diagnosed antenatally. Cystic hygroma is one of the signs suggestive of chromosomal or congenital abnormalities that occur very early and are very specific. A diagnosis can be made from the ninth week of amenorrhoea onwards by vaginal ultrasound. 73% of the karyotypes that were obtained were abnormal. The large majority (54% = have Turner's Syndrome, but there are some of the karyotypes that are normal. Our figures correspond with those in the literature. Several factors were analysed to show the influence of this pathology on the prognosis which is overall awful (only 11.5% of infants were born alive an only 7.5% survived). Factors for a good prognosis would be a normal karyotype and the spontaneous resolution of cystic hygroma in the second trimester of the pregnancy. Hydrops is a factor of poor prognosis and it occurs in 60% of cases of cystic hygroma but unfortunately 30% of cases where the karyotype is normal have severe malformations (bone, kidney and digestive tract). The resolution of the cystic hygroma in the second trimester of pregnancy does not exclude an abnormal karyotype or a severe congenital malformation associated with the condition. As cases do recur in the same family there is an indication that a suspicion that the condition can be an autosomic, recessive or even dominant condition. The authors advise that the diagnosis should be made early and thoroughly in order to carry out chorionic villus sampling to determine the karyotype early before the very important sign for abnormality disappears as it may.
作者报告了一系列42例产前诊断出的胎儿颈部水囊瘤病例。水囊瘤是提示染色体或先天性异常的体征之一，这些异常出现得非常早且非常具有特异性。从闭经第九周起可通过阴道超声进行诊断。所获得的核型中有73%是异常的。绝大多数（54%）患有特纳综合征，但也有一些核型是正常的。我们的数据与文献中的数据相符。分析了几个因素以显示这种病理情况对预后的影响，总体预后很差（只有11.5%的婴儿存活出生，仅有7.5%存活）。预后良好的因素包括核型正常以及妊娠中期水囊瘤自然消退。水肿是预后不良的一个因素，它发生在60%的水囊瘤病例中，但不幸的是，30%核型正常的病例有严重畸形（骨骼、肾脏和消化道）。妊娠中期水囊瘤的消退并不排除异常核型或与该病症相关的严重先天性畸形。由于同一家庭中确实会复发病例，有迹象表明怀疑这种病症可能是常染色体隐性或甚至显性病症。作者建议应尽早并全面地做出诊断，以便进行绒毛取样，在异常的重要体征可能消失之前尽早确定核型。
