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目的探讨染色体核型分析和超声检查对淋巴水囊瘤胎儿预后的影响。方法选择2010年1月-2015年8月在广东省妇幼保健院医学遗传中心超声诊断为胎儿颈部淋巴水囊瘤的70例孕妇为研究对象,所有对象均采用绒毛活检或者羊膜腔穿刺术进行染色体核型分析,评估胎儿预后,并追踪随访妊娠结局。结果所有孕妇中,59例选择终止妊娠,3例于妊娠中期流产,8例顺利分娩(3例水囊瘤于孕中期自然消退,5例分娩后手术切除);先天性卵巢发育不全(Turner综合征)19例,占27.1%,21-三体综合征10例,占14.3%,18-三体综合征4例,占5.71%,13-三体综合征4例,占5.71%,其他染色体异常6例,占8.58%,染色体正常27例,占38.6%;超声检查结果显示,单纯型水囊瘤31例,混合型水囊瘤39例,有分隔型58例,无分隔型12例。妊娠结局:有3例孕中期自然流产,59例引产,3例水囊瘤于孕中期自然消退,5例分娩后手术切除水囊瘤,追踪随访3个月无复发。单纯型和混合、有分隔型和无分隔型、染色体正常和异常的颈部淋巴水囊瘤孕妇妊娠结局比较,差异有统计学意义(P均<0.05)。结论单纯型、无分隔且染色体正常的淋巴水囊瘤预后较好;混合型、有分隔且染色体异常的预后较差。
Objective To investigate the effect of karyotype analysis and ultrasonography on the prognosis of lymphoma. Methods From January 2010 to August 2015, 70 pregnant women with fetal cervical lympho-cystoma diagnosed by ultrasound in the Medical Genetic Center of MCH Hospital of Guangdong Province were enrolled. All subjects were performed with villus biopsy or amniocentesis Chromosomal karyotyping, assessment of fetal prognosis, and follow-up of pregnancy outcome. Results All pregnant women, 59 patients chose to terminate the pregnancy, 3 in the second trimester of pregnancy, 8 cases of childbirth (3 cases of hydrocephalus spontaneous subside in the second trimester, 5 cases of childbirth after surgery); congenital ovarian hypoplasia (Turner comprehensive 19 cases, accounting for 27.1%, 21 cases of trisomy syndrome in 10 cases, accounting for 14.3%, 18 cases of trisomy syndrome in 4 cases, accounting for 5.71%, trisomy syndrome in 4 cases, accounting for 5.71%, other chromosomes Abnormalities in 6 cases, accounting for 8.58%, 27 cases of chromosomal abnormalities, accounting for 38.6%; ultrasonography showed that 31 cases of pure water tumor, mixed tumor of the tumor in 39 cases, 58 cases of septa, 12 cases without septa. Pregnancy outcome: 3 cases of second trimester spontaneous abortion, 59 cases of induced labor, 3 cases of hydrocephalus spontaneous regression in the second trimester, 5 cases of surgical resection of water cyst after childbirth, follow-up 3 months without recurrence. Simple and mixed, with and without septum type, normal and abnormal chromosomes of cervical lymphoma in pregnant women with pregnancy outcome, the difference was statistically significant (P all <0.05). Conclusions Simple, unseparated and normal chromosomal lymphoid cystadenomas have a good prognosis. Mixed, separated and chromosomal abnormalities have a poor prognosis.