胎儿颈部囊性淋巴瘤的产前诊断及临床探讨

Prenatal diagnosis and management of fetal nuchal cystic hygroma

目的 探讨胎儿颈部囊性淋巴瘤 (nuchalcystichygroma ,NCH)的产前诊断及妊娠期的处置。 方法 回顾性分析 1996年 3月～ 2 0 0 3年 3月我院 10例胎儿NCH产前超声声像、介入性羊膜腔穿刺查胎儿染色体及TORCH感染情况、胎儿病理。 结果 超声图象 :颈周及背部见囊性液性暗区最小为 5 .3cm× 4 .8cm× 4 .0cm ,最大为 12 .6cm× 6 .6cm× 4 .0cm ,并发胸腔积液 4例、胸腹腔积液及皮下积液 4例。足月分娩 1例并存活 ,引产 9例 (包括死胎 4例 )。羊水TORCH感染各项检查 7例 ,除 1例TOX PCR阳性 ,均阴性 ;羊水染色体检查 2例 ,1例为 4 5XO ,1例为 4 5XO/ 4 6XX(6 0 :4 0 ) ,查胎儿血 (脐带或心脏 ) 3例 ,2例均为 4 5XO ,1例为 4 5XX ,- 2 1,- 2 2 ,+t(2 1;2 2 ) ,足月剖宫产儿外周血为 4 6XX。病理 :颈部囊状淋巴瘤。 结论 超声及介入性羊膜腔穿刺查胎儿染色体在早期诊断及处置胎儿NCH起决定性作用 ,胎儿NCH与Turner综合征等染色体异常相关。

Objective To discuss the diagnosis and management options of fetal nuchal cystic hygroma(NCH). Methods Ten cases of fetal nuchal cystic hygroma from Mar 1996 to Mar 2003 were retrospectively analyzed. The sonographic images, fetal karyotype examination after amniocentesis, TORCH results and pathology were reviewed. Results The sonogram detected a large cystic mass around the posterior of the neck. The smallest one was 5.3 cm×4.8 cm×4.0 cm in size and the biggest 12.6 cm×6.6 cm×4.0 cm. The nuchal ligament could be seen inside the mass. Four cases complicated with pleural effusions and 4 with pleural effusions, ascites and skin edema. One case was deliveried in full term and the other 9 cases were induced (including 4 fetal death). Seven cases were examined for TORCH of amniotic fluid among which only one TOX PCR positive. The karyotype examination was performed in 6 cases. The results were 45XO(3 cases), 45XO/46XX (60:40) and 45XX,-21,-22,+t(21;22). The only alive baby is 46XX. Conclusions Ultrasound and invasive amniocentesis to detect the fetal karyotype have an important role in early diagnosis and management of nuchal cystic hygroma. Nuchal cystic hygromas are associated with Turner’s syndrome and other chromosomal abnormalities.