胎儿颈部水囊状淋巴管瘤68例临床分析
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摘要
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2011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。
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 45 X0(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) and1 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.
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 45 X0(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) and1 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.
引文
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[11]袁妙贤,周小渔,尹强,等.手术治疗小儿颈部淋巴管瘤42例分析[J].临床医学工程,2015,22(12):1601-1602.DOI:10.3969/j.issn.1674-4659.2015.12.1601.Yuan MX,Zhou XY,Yin Q,et al.Analysis on surgical treatment for 42 cases of pediatric cervical lymphangioma[J].Clinical Medical&Engineering,2015,22(12):1601-1602.DOI:10.3969/j.issn.1674-4659.2015.12.1601.
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[13]Azouz H,Salah H,Al-Ajlan S,et al.Treatment of cystic hygroma in a young infant through multidisciplinary approach involving sirolimus,sclerotherapy,and debulking surgery[J].JAAD Case Rep,2016,2(4):350-353.DOI:10.1016/j.jdcr.2016.05.019.
[2]王静,王晓燕,王巍.连续顺序追踪超声法检测胎儿骨骼肢体畸形的临床应用效果[J].中国医药,2018,13(3):437-439.DOI:10.3760/cma.j.issn.1673-4777.2018.03.029.Wang J,Wang XY,Wang W.The value of sequential tracking ultrasound in detection of fetal skeletal limb deformities[J].China Medicine,2018,13(3):437-439.DOI:10.3760/cma.j.issn.1673-4777.2018.03.029.
[3]于晓惠,张建平,邵茹彬,等.孕中期孕妇2389例产前筛查结果及影响因素分析[J].临床误诊误治,2012,25(10):58-60.DOI:10.3969/j.issn.1002-3429.2012.10.025.Yu XH,Zhang JP,Shao RB,et al.Analysis of prenatal screening results and influencing factors in 2389 pregnant women in second trimester[J].Clinical Misdiagnosis&Mistherapy,2012,25(10):58-60.DOI:10.3969/j.issn.1002-3429.2012.10.025.
[4]吴江,黄庆荣,汪根树,等.小儿淋巴管瘤病理性质的探讨[J].中华小儿外科杂志,2002,23(6):568-569.DOI:10.3760/cma.j.issn.0253-3006.2002.06.033.Wu J,Huang QR,Wang GS,et al.Pathological characteristics of lymphangioma in children[J].Chinese Journal of Pediatric Surgery,2002,23(6):568-569.DOI:10.3760/cma.j.issn.0253-3006.2002.06.033.
[5]Malone FD,Ball RH,Nyberg DA,et al.First-trimester septated cystic hygroma:prevalence,natural history,and pediatric outcome[J].Obstet Gynecol,2005,106(2):288-294.
[6]冯晓,李红.胎儿颈部淋巴水囊瘤与染色体核型异常的关联分析[J].中国血液流变学杂志,2012,22(2):295-297.DOI:10.3969/j.issn.1009-881X.2012.02.041.Feng X,Li H.Analysis of the relationship between fetal nuchal cystic hygroma and chromosome abnormalities[J].Chinese Journal of Hemorheology,2012,22(2):295-297.DOI:10.3969/j.issn.1009-881X.2012.02.041.
[7]王挺,黄华梅,胡晶晶,等.染色体核型分析联合超声检查对胎儿颈部淋巴水囊瘤预后评估[J].中国妇幼保健,2017,32(4):794-796.DOI:10.7620/zgfybj.j.issn.1001-4411.2017.04.54.Wang T,Huang HM,Hu JJ,et al.Chromosomal karyotype analysis combined with ultrasonography in the prognosis of fetal neck lymphedema[J].Maternal&Child Health Care of China,2017,32(4):794-796.DOI:10.7620/zgfybj.j.issn.1001-4411.2017.04.54.
[8]Yeom W,Paik ES,An JJ,et al.Clinical characteristics and perinatal outcome of fetal hydrops[J].Obstet Gynecol Sci,2015,58(2):90-97.DOI:10.5468/ogs.2015.58.2.90.
[9]潘颖,田彩霞.妊娠中期孕妇羊水细胞检测指征及结果分析[J].中国医药,2015,10(4):551-553.DOI:10.3760/cma.j.issn.1673-4777.2015.04.030.Pan Y,Tian CX.Indications and result analysis of amniotic fluid cell detection in pregnant women in the second trimester[J].China Medicine,2015,10(4):551-553.DOI:10.3760/cma.j.issn.1673-4777.2015.04.030.
[10]饶腾子,李玲,钟燕芳,等.孕早期淋巴水囊瘤胎儿的绒毛染色体及微阵列结果分析[J].中国产前诊断杂志:电子版,2016,8(4):57-59,82.DOI:10.13470/j.cnki.cjpd.2016.04.015.Rao TZ,Li L,Zhong YF,et al.Analysis of chromosomal and microarray results of fetal lymphedema in early pregnancy[J].Chinese Journal of Prenatal Diagnosis(Electronic Version),2016,8(4):57-59,82.DOI:10.13470/j.cnki.cjpd.2016.04.015.
[11]袁妙贤,周小渔,尹强,等.手术治疗小儿颈部淋巴管瘤42例分析[J].临床医学工程,2015,22(12):1601-1602.DOI:10.3969/j.issn.1674-4659.2015.12.1601.Yuan MX,Zhou XY,Yin Q,et al.Analysis on surgical treatment for 42 cases of pediatric cervical lymphangioma[J].Clinical Medical&Engineering,2015,22(12):1601-1602.DOI:10.3969/j.issn.1674-4659.2015.12.1601.
[12]常昆鹏.2种方法治疗颈部淋巴管瘤的临床研究[J].河南医学研究,2017,26(8):1382-1383.D01:10.3969/j.issn.1004-437X.2017.08.013.Chang KP.Clinical study of 2 methods for the treatment of cervical lymphangioma[J].Henan Medical Research,2017,26(8):1382-1383.DOI:10.3969/j.issn.1004-437X.2017.08.013.
[13]Azouz H,Salah H,Al-Ajlan S,et al.Treatment of cystic hygroma in a young infant through multidisciplinary approach involving sirolimus,sclerotherapy,and debulking surgery[J].JAAD Case Rep,2016,2(4):350-353.DOI:10.1016/j.jdcr.2016.05.019.