Baergen R N, Kelly T, McGinniss M J, Jones O W, Benirschke K
Department of Pathology, UCSD School of Medicine, San Diego, CA 92103-8720, USA.
Hum Pathol. 1996 Jul;27(7):731-4. doi: 10.1016/s0046-8177(96)90406-2.
We describe a case of a complete hydatidiform mole with a coexistent embryo. A 19-year-old Hispanic woman presented with an intrauterine pregnancy at 7 weeks gestational age. An ultrasound evaluation at that time showed a gestational sac and fetal heart activity was observed. Four weeks later, subsequent ultrasound study revealed no evidence of an embryo, and a pattern consistent with a hydatidiform mole. Dilation and curettage was subsequently performed that showed a classic hydatidiform mole on histological examination. Chromosome analysis revealed a normal 46,XX karyotype. DNA was extracted from the placental tissue, as well as maternal and paternal blood. Molecular genetic analysis was; performed with four variable number of tandem repeats (VNTR) probes and showed the placental tissue to consist of only paternal DNA with two genomic copies of each allele studied. These findings are consistent with the diagnosis of complete hydatidiform mole and its origin from an empty ovum fertilized by a single sperm. This is the first reported case of a living embryo coexistent with a complete hydatidiform mole documented by genetic analysis.
我们描述了一例伴有共存胚胎的完全性葡萄胎病例。一名19岁的西班牙裔女性在孕7周时出现宫内妊娠。当时的超声检查显示有妊娠囊,并观察到胎儿心脏活动。四周后,后续超声检查未发现胚胎迹象,呈现出与葡萄胎相符的图像。随后进行了刮宫术,组织学检查显示为典型的葡萄胎。染色体分析显示核型为正常的46,XX。从胎盘组织以及母血和父血中提取了DNA。用四个串联重复可变数目(VNTR)探针进行了分子遗传学分析,结果显示胎盘组织仅由父系DNA组成,所研究的每个等位基因均有两个基因组拷贝。这些发现与完全性葡萄胎的诊断及其由单个精子使空卵受精的起源一致。这是首例经基因分析记录的与完全性葡萄胎共存的活胚胎病例。