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.%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.
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