Tanriverdi H A, Ertan A K, Hendrik H J, Remberger K, Schmidt W
Department of Obstetrics and Gynecology, Karaelmas University Medical School, Kozlu 67600 Zonguldak, Turkey.
Eur J Obstet Gynecol Reprod Biol. 2005 Jan 10;118(1):40-6. doi: 10.1016/j.ejogrb.2004.04.005.
To determine the associated diagnostic findings which are linked with adverse fetal outcome in nuchal cystic hygroma.
Based on a series of 32 cases, we determined the sonographic morphology of the hygroma, associated structural anomalies, karyotypes and autopsy findings. Intrauterine fetal death, spontaneous abortion and abnormal karyotypes were assigned as adverse outcome parameters.
The mean gestational age at diagnosis was 14.4 weeks (range 10-21). There were 18 nonseptated and 14 septated hygromas. Besides hygroma, associated sonographic detectable structural anomalies were observed in 17 cases (53.1%). The greatest number of associated sonographic anomalies were hydrops (31.3%), generalised skin oedema (6.3%) and pterygium colli (6.3%). Cytogenetic analysis revealed an abnormal karyotype in 13 of 26 (50%) invasive procedures. Turner syndrome and Trisomy 18 (both 15.4%) were the most frequent cytogenetic abnormalities. Autopsy was performed in 24 cases and 16 cases (66.7%) had an associated autopsy finding to hygroma colli. The most frequent associated autopsy findings were limb and craniofacial anomalies (both 25%). Only 3 (9.4%) mothers gave birth to healthy newborns. The overall fetal adverse outcome rate was 68.8% (22 cases).
Fetuses with NCH are at high risk for adverse outcome and detailed prenatal diagnosis including invasive procedures should be offered. According to the presented autopsy findings, to determine fetal outcome in NCH cases with normal karyotypes, detailed sonography should be concentrated beside the exclusion of fetal heart defects and existence of hydrops fetalis, on the skeletal, urogenital and craniofacial anomalies, as these might cause severe morbidity.
确定与颈部囊状水瘤胎儿不良结局相关的诊断性发现。
基于32例病例系列，我们确定了水瘤的超声形态、相关结构异常、核型及尸检结果。将宫内胎儿死亡、自然流产及异常核型作为不良结局参数。
诊断时的平均孕周为14.4周（范围10 - 21周）。有18例无分隔水瘤和14例有分隔水瘤。除水瘤外，17例（53.1%）观察到相关超声可检测到的结构异常。相关超声异常数量最多的是水肿（31.3%）、全身性皮肤水肿（6.3%）和颈蹼（6.3%）。细胞遗传学分析显示，26例侵入性检查中有13例（50%）核型异常。特纳综合征和18三体（均为15.4%）是最常见的细胞遗传学异常。24例进行了尸检，16例（66.7%）有与颈部水瘤相关的尸检发现。最常见的相关尸检发现是肢体和颅面部异常（均为25%）。只有3例（9.4%）母亲分娩出健康新生儿。总体胎儿不良结局发生率为68.8%（22例）。
颈部囊状水瘤胎儿不良结局风险高，应提供包括侵入性检查在内的详细产前诊断。根据所呈现的尸检结果，对于核型正常的颈部囊状水瘤病例，确定胎儿结局时，除排除胎儿心脏缺陷和胎儿水肿的存在外，详细超声检查应重点关注骨骼、泌尿生殖系统和颅面部异常，因为这些可能导致严重疾病。
