80例颈项透明层增厚及9例淋巴水囊瘤的临床分析

Clinical analysis of 80 cases of increased nuchal translucency and 9 cases of cystic hygroma

关键词:  颈项透明层增厚  淋巴水囊瘤  妊娠结局  染色体

Key words:  increased nuchal translucency  cystic hygroma  pregnancy outcome  karyotype

摘要:

目的　探讨早孕期胎儿颈项透明层（NT）增厚及淋巴水囊瘤的妊娠结局。方法　收集2008—2016年于佛山市第一人民医院行产前诊断的89例NT增厚或淋巴水囊瘤的单胎孕妇，其中NT增厚80例，淋巴水囊瘤9例。将80例按NT增厚值分为3组，A组（3.0~3.9 mm），B组（4.0~4.9 mm）和C组（≥5.0 mm），对所有患者妊娠结局进行统计学分析。结果　80例NT增厚胎儿中发生染色体异常共16例（20.0%），其中13例为21三体综合征（81.3%），1例18三体，1例13三体，1例嵌合体45,X［13］/46,XY［47］；分娩者共55例（68.8%）。9例淋巴水囊瘤胎儿中发生染色体异常6例（66.7%），其中Turner 3例（50%），21三体2例，1例为嵌合体（46,XY［4］/46,XY［34］）；1例胎死宫内，1例水肿，1例足月分娩。淋巴水囊瘤与NT增厚胎儿发生染色体异常的RR值为3.333，95%CI（1.763-6.301）。A组染色体异常发生率为8.7%，B组为31.8%，C组为41.7%，染色体异常发生率在3组间比较，差异具有统计学意义，P<0.05。结论　胎儿NT增厚与染色体异常关系密切，且胎儿染色体异常风险随着NT值升高而增加。与单纯NT增厚相比，淋巴水囊瘤胎儿预后较差。染色体及排畸超声正常的NT增厚胎儿预后较好。

Abstract:

ObjectiveTo investigate the pregnancy outcome of increased nuchal translucency (NT) and cystic hygroma in early pregnancy.MethodsTotally 89 cases of singleton fetuses with increased nuchal translucency (NT) or cystic hygroma, who had invasive prenatal test in the first people’s hospital of foshan from 2008-2016, were retrospectively reviewed to analyze the effects on fetal prognosis. The 80 cases of increased nuchal translucency were divided into 3 groups according to NT thickness: group A (3.0-3.9 mm), group B (4.0-4.9 mm), and group C (greater than or 5.0 mm). We analyzed fetal prognosis of the three groups.Results Among 80 fetuses with increased nuchal translucency, 20% had abnormal karyotype, including 13 cases of trisomy 21, one trisomy 18, one trisomy 13, and one 45,X［13］/46,XY［47］. 55 cases were live birth. Among 9 fetuses with cystic hygroma, 66.7% had abnormal karyotype, including three cases of Turner syndrome, two trisomy 21, one 46,XX［4］/46,XY［34］, one case of uterine fetal death, one case of hydrops fetalis, and one case of live birth. Compared with simple increased nuchal translucency, fetus with cystic hygroma had 3-fold increased risk of abnormal karyotype with RR 3.333 and 95% CI (1.763-6.301). The abnormal karyotype in group A was 8.7%, group B 31.8%, and group C 41.7%. The difference of abnormal karyotype rate among group A, B, C was significant (P<0.05).Conclusion Increased nuchal translucency is significantly correlated with chromosomal abnormalities, and the incidence of chromosomal abnormalities increased with fetal NT thickness. Pregnancy outcome was significantly worse in the fetus with cystic hygroma as compared to simple increased nuchal translucency. The prognosis is good if the karyotype and the second screening ultrasound examination are normal.