CAJ | 학술논문

目的检测1例罕见的完全性葡萄胎与胎儿共存病例的病理及亲本来源,探讨其诊断及鉴别诊断方法.方法对1例胎儿与葡萄胎共存病例的葡萄胎组织及胎儿、胎盘组织进行病理检查及染色体核型分析,同时检测双亲、胎儿及葡萄胎基因组DNA的5个短串联重复序列(short tandem repeat,STR)位点(D4S2460、D18S488、D21S2039、DXS1205和DYS219),确定其亲本来源.结果(1)病例简介:孕妇27岁,妊娠20周血清学筛查提示神经管缺陷高风险,B型超声检查胎儿未见异常.妊娠24+5周复查超声,发现胎儿与葡萄胎共存,胎盘与葡萄状组织界限清晰,妊娠26周胎死官内,引产1男死婴.胎儿娩出后产妇血β-人绒毛膜促性腺激素下降明显,但引产后第3周再次上升,官腔无组织残留,化疗2疗程后降至正常.胎儿尸体解剖未见结构异常,胎盘绒毛发育成熟,葡萄胎绒毛水肿明显,中央池形成,间质血管消失,滋养细胞增生,考虑为完全性水泡状胎块.(2)遗传学检查:胎盘组织染色体核型分析为46,XY,胎儿软骨、葡萄胎组织细胞培养失败.检测双亲、胎儿及葡萄胎的5个STR位点,胎儿为双亲来源的正常二倍体;葡萄胎的5个STR位点中有4个只含有父本的单一遗传信息(D4S2460没有诊断价值),为父本来源；葡萄胎既有来自父本Y染色体的等位基因,也有来自父本X染色体的等位基因,故葡萄胎为双精子受精形成的父源性杂合子.胎儿与葡萄胎的父本来源的等位基因不完全相同,推测本例完全性葡萄胎与胎儿共存为单卵三精子受精引起.结论STR检查可从遗传层面确定胎儿与完全性葡萄胎共存的诊断,有助于发病机制的研究.
목적 검측1례한견적완전성포도태여태인공존병례적병리급친본래원,탐토기진단급감별진단방법.방법 대1례태인여포도태공존병례적포도태조직급태인、태반조직진행병리검사급염색체핵형분석,동시검측쌍친、태인급포도태기인조DNA적5개단천련중복서렬(short tandem repeat,STR)위점(D4S2460、D18S488、D21S2039、DXS1205화DYS219),학정기친본래원.결과(1)병례간개:잉부27세,임신20주혈청학사사제시신경관결함고풍험,B형초성검사태인미견이상.임신24+5주복사초성,발현태인여포도태공존,태반여포도상조직계한청석,임신26주태사관내,인산1남사영.태인면출후산부혈β-인융모막촉성선격소하강명현,단인산후제3주재차상승,관강무조직잔류,화료2료정후강지정상.태인시체해부미견결구이상,태반융모발육성숙,포도태융모수종명현,중앙지형성,간질혈관소실,자양세포증생,고필위완전성수포상태괴.(2)유전학검사:태반조직염색체핵형분석위46,XY,태인연골、포도태조직세포배양실패.검측쌍친、태인급포도태적5개STR위점,태인위쌍친래원적정상이배체;포도태적5개STR위점중유4개지함유부본적단일유전신식(D4S2460몰유진단개치),위부본래원；포도태기유래자부본Y염색체적등위기인,야유래자부본X염색체적등위기인,고포도태위쌍정자수정형성적부원성잡합자.태인여포도태적부본래원적등위기인불완전상동,추측본례완전성포도태여태인공존위단란삼정자수정인기.결론STR검사가종유전층면학정태인여완전성포도태공존적진단,유조우발병궤제적연구.
Objective To investigate the parental origin for a rare case of complete hydatidiform mole and coexisting fetus and to discuss its diagnosis and differential diagnosis.Methods Tissues from the fetus,mole and placenta were collected and pathology analysis and chromosome analysis were done.The DNA from the fetus,mole and parents' peripheral blood leukocytes was amplified with five short tandem repeat (STR) markers (D4S2460,D18S488,D21S2039,DXS1205 and DYS219) at the same time to confirm the parental source of the hydatidiform.Results (1) Casereport:A 27-year-old woman,gravida 1,para 0,was found high risk for neural tube defects at 20 weeks of gestation.At 24+5 weeks of gestation,ultrasound examination demonstrated a normal fetus,a normal placenta and a huge mass with a multicystic appearance attached to the placenta with an obvious demarcation.The fetus died at 26 weeks of gestation.Serum human chorionic gonadotropin-β(β -hCG) level decreased obviously during the first two weeks after artificial induction,but elevated at the third week,and β-hCG titers fell to normal after 2 courses of chemotherapy.Fetus autopsy showed no structure abnormality.Histopathologic examination of the hydatidiform showed swelling of chorionic villi with hyperplasia of the trophoblast and formation of central cisterns suggesting of a twin pregnancy consisting of a complete hydatidiform mole and coexisting fetus.(2) Genetic analysis:The karyotype analysis of the normal placental villi was 46,XY; the cell cultures of fetal cartilage tissue and hydatidiform were failed.STR analysis showed that the fetus was diploid from biparental source;the mole was androgenetic source.And the mole had locus both from Y and X chromosome of the father,so it was heterozygous.It was suggested that this case was derived from one single oocyte fertilized with three spermatozoas.Conclusions STR analysis could be used to confirm the diagnosis of complete hydatidiform mole and coexisting fetus and to find the pathogenetic rnechanism.