胎儿颈部水囊状淋巴管瘤68例临床分析

摘要

Objective To analyze ultrasonic manifestations,genetic characteristics and pregnancy outcomes of fetal nuchal cystic lymphangioma.Methods Clinical records of 68 cases of fetal nuchal cystic lymphangioma diagnosed in Chinese PLA General Hospital were reviewed from February 2011 to August 2017.Ultrasonic manifestations,genetic detection results and pregnancy outcomes of the fetuses were analyzed.Results There were 8 cases of mono cyst(7 abortion and 1 labor) and 60 cases of multilocular cysts.In fetuses with multilocular cysts,44 cases had no complicated malformation (43 abortion and 1 cesarean section);16 cases had cystic lymphangioma complicated with gastroschisis or edema(9 intrauterine fetal death and 7 abortion).Twenty fetuses had chromosome karyotype test and the test results showed 6 cases of 45XO (5 abortion and 1 intrauterine fetal death),3 cases of 21 trisomy (abortion),3 cases of 18 trisomy (2 abortion and 1 intrauterine fetal death) and 1 case of 13 trisomy(abortion).Forty-one cases chose abortion and 7 fetus died in uterus without karyotype test.Conclusions Fetus with nuchal cystic lymphangioma has high risk of chromosomal abnormality and poor clinical prognosis.Most patients can not have further examination or treatment;only a few cases can have better outcomes through expectant treatment and intrauterine treatment.%目的 分析胎儿颈部水囊状淋巴管瘤的超声表现、遗传学特点及妊娠结局.方法 选取201 1年2月至2017年8月在解放军总医院产前诊断为胎儿颈部水囊状淋巴管瘤患者68例,回顾性分析其临床资料,包括胎儿的超声表现、遗传学检测的产前诊断和妊娠结局.结果 68例颈部水囊状淋巴管瘤的胎儿中单房囊肿8例,其中7例引产、1例顺娩活婴;多房囊肿60例,44例无合并畸形,其中43例引产、1例经宫内治疗剖宫产活婴;16例合并腹裂或胎儿水肿(9例胎死宫内、7例引产).68例患者中20例进行了胎儿染色体核型检查,筛查出6例45XO(5例引产、1例胎死宫内),3例21-三体综合征(引产),3例18-三体综合征(2例引产、1例胎死宫内),1例13-三体综合征(引产);41例患者未行染色体核型检查直接引产;7例胎死宫内未行检查.结论 胎儿颈部水囊状淋巴管瘤存在染色体异常风险高,多数患者不能配合进一步检查或治疗,临床预后不良,少数患者通过期待疗法及宫内治疗可改善临床结局.