Droste S, Hendricks S K, Von Alfrey H, Mack L A
Department of Obstetrics and Gynecology, University of Wisconsin, Madison.
J Perinat Med. 1991;19(6):449-54. doi: 10.1515/jpme.1991.19.6.449.
Prenatally diagnosed cystic hygroma colli is associated with Turner syndrome, but has been reported with a variety of other conditions. The association with abnormal karyotypes frequently results in a decision to terminate the pregnancy. Information on the natural history of this malformation is thus limited. We reviewed 34 cases of cystic hygroma colli which were diagnosed by ultrasound at a mean gestational age of 17.3 +/- 3.4 weeks. Pregnancy outcome was known for 31 of these cases. The distribution of fetal karyotypes, available for 23 fetuses, was similar to that reported in other series. Only two fetuses, both with an abnormal karyotype, were liveborn at term. Fourteen pregnancies were electively terminated while the remaining 15 cases resulted in spontaneous pregnancy loss. Twenty-six fetuses underwent necropsy which generally confirmed the prenatal ultrasound findings. However, in 9 cases associated anomalies had been missed by the sonogram. Only one fetus with associated anomalies survived to term. Hydrops was common and occurred in most of the spontaneous losses. This series suggests that the prenatal finding of cystic hygroma colli portends an extremely poor prognosis regardless of the karyotype or the presence or nature of associated anomalies. We confirm that karyotypes other than monosomy X are common and that perinatal survival is highly unlikely, especially in the presence of hydrops fetalis.
产前诊断的颈部水囊瘤与特纳综合征相关，但也有报道称其与多种其他病症有关。与异常核型的关联常常导致决定终止妊娠。因此，关于这种畸形自然病史的信息有限。我们回顾了34例颈部水囊瘤病例，这些病例通过超声诊断，平均孕周为17.3±3.4周。其中31例病例的妊娠结局已知。23例胎儿的核型分布与其他系列报道相似。只有2例核型异常的胎儿足月存活。14例妊娠被选择性终止，其余15例导致自然流产。26例胎儿进行了尸检，大体上证实了产前超声检查结果。然而，有9例相关畸形被超声检查遗漏。只有1例伴有相关畸形的胎儿足月存活。水肿很常见，大多数自然流产病例都出现了水肿。该系列研究表明，无论核型如何，也无论是否存在相关畸形及其性质如何，产前发现颈部水囊瘤预示着预后极差。我们证实，除X单体型外的其他核型很常见，围产期存活的可能性极小，尤其是在存在胎儿水肿的情况下。
