CAJ | 학술논문

目的：探讨多胎妊娠合并胎儿染色体异常的产前诊断方法及选择性减胎术定位方法。方法选取2012年1月至2013年12月就诊于广州医科大学附属第三医院9例多胎妊娠合并胎儿染色体异常患者的临床资料，采用回顾性研究方法对其产前诊断方法、染色体异常情况、选择性减胎术的方法及妊娠结局进行分析。结果9例患者中3例为三胎妊娠，6例为双胎妊娠。（1）产前诊断：①超声检查：9例患者早孕期行超声检查，均提示存在胎儿颈项透明层（ nuchal translucency ， NT）增厚，孕中期超声检查提示有6例患者存在胎儿结构异常，包括颈部囊肿、心脏异常、外生殖器畸形、足内翻、全身水肿等；②染色体检查：5例胎儿21－三体综合征，1例Turner综合征，1例染色体微缺失，1例染色体重复，1例双胎染色体异常。（2）治疗及妊娠结局：9例患者中7例患者行选择性减胎术治疗，1例流产，3例早产（新生儿均存在并发症），3例足月分娩（新生儿均未见异常）；2例患者拒绝减胎，1例于孕中期自然流产，1例于孕35＋周剖宫产分娩（1胎儿为21－三体综合征，另一胎儿为健康儿）。结论多胎妊娠应注重早孕期染色体筛查，确诊宫内胎儿染色体异常的患者可在超声引导下行选择性减胎术治疗。
목적：탐토다태임신합병태인염색체이상적산전진단방법급선택성감태술정위방법。방법선취2012년1월지2013년12월취진우엄주의과대학부속제삼의원9례다태임신합병태인염색체이상환자적림상자료，채용회고성연구방법대기산전진단방법、염색체이상정황、선택성감태술적방법급임신결국진행분석。결과9례환자중3례위삼태임신，6례위쌍태임신。（1）산전진단：①초성검사：9례환자조잉기행초성검사，균제시존재태인경항투명층（ nuchal translucency ， NT）증후，잉중기초성검사제시유6례환자존재태인결구이상，포괄경부낭종、심장이상、외생식기기형、족내번、전신수종등；②염색체검사：5례태인21－삼체종합정，1례Turner종합정，1례염색체미결실，1례염색체중복，1례쌍태염색체이상。（2）치료급임신결국：9례환자중7례환자행선택성감태술치료，1례유산，3례조산（신생인균존재병발증），3례족월분면（신생인균미견이상）；2례환자거절감태，1례우잉중기자연유산，1례우잉35＋주부궁산분면（1태인위21－삼체종합정，령일태인위건강인）。결론다태임신응주중조잉기염색체사사，학진궁내태인염색체이상적환자가재초성인도하행선택성감태술치료。
Objective To investigate the prenatal diagnosis method and selective reduction treatment of the multiple pregnancy with fetal chromosomal abnormalities .Methods This study collected 9 cases of multiple pregnancies with fetal chromosomal abnormalities , which were admitted into The Third Affiliated Hospital of Guangzhou Medical University from January 2012 to December 2013.Prenatal diagnosis method, fetal chromosomal abnormalities,selection reduction treatment and pregnancy outcomes were retrospectively analyzed .Results Among the 9 cases, 3 cases were triplet pregnancy and the other 6 cases were twin pregnancy.(1)Prenatal diagnosis:①Ultrasonic testing:All the fetuses of 9 patients were thick nuchal translucency ( NT ) .Six cases had structural abnormalities fetus , including cervical cyst , cardiac abnormity, external genitals malformation, strephenopodia, anasarca, and so on.②Karyotype analysis:In 1 case, 2 fetuses of twin pregnancies were chromosomal abnormality .Among the 8 cases, 1 fetus of multiple pregnancies were chromosomal abnormality , which included 5 trisomy 21 syndrome cases, 1 Turner syndrome case, 1 chromosome deficiency case and 1 chromosome duplication.(2) Therapy and pregnancy outcomes: 7 cases were performed selective reduction;1 caseaborted , 3 patients preterm delivered and all the newborns had complications , 3 cases delivered at term and all the newborns were normal.Among the 2 cases of refusing to fetal reduction , 1 case spontaneous abortion at the second trimester and the other was performed caesarean section at 35 weeks of pregnancy whose one of twin babywas trisomy 21 syndrome and the other was healthy .Conclusions For multiple pregnancies, karyotypeanalysis should be emphasized in the first trimester .When the fetuses were diagnosed of chromosomalabnormality,it should be performed ultrasound mediated selection reduction.