Department of Pathology, School of Basic Medical Sciences, Third Hospital, Peking University Health Science Center, Beijing, 100191, China.
Department of Pathology, Capital Medical University Beijing Obstetrics and Gynecology Hospital, Beijing, 100123, China.
J Assist Reprod Genet. 2020 Mar;37(3):603-610. doi: 10.1007/s10815-019-01650-3. Epub 2019 Dec 12.
The aim of this study was to identify a co-existing hydatidiform mole (HM) in twin pregnancy from the abnormal mixed-genomic products of conception (POC) after assisted reproduction by histopathological review, evaluation of p57 immunostaining and short tandem repeat genotyping.
Thirty-seven patients were collected with suspicion for HM by pathological morphology. They had two embryos individually transferred to their uterus after in vitro fertilization and presented two gestational sacs with undeveloped embryos or one sac with an abnormal area by ultrasonography.
Thirty patients were diagnosed as singleton pregnancy, including twenty-two non-molar gestations, six trisomy gestations, one homozygous complete mole and one heterozygous partial mole. Although six patients had ultrasonic imaging of two gestational sacs, the embryonic components in the vacant sac might fade away after transferring. Other seven patients were considered as twin pregnancy by the allelic genotype from two individual conceptions. For the patients with uniform p57 positivity, excessive paternal alleles indicated the potential partial HM in the twin pregnancy. For the patients demonstrated divergent and/or discordant p57 immunostaining, twin pregnancy with co-existing complete HM or mosaic conception were confirmed by genotyping of different villi population respectively. These patients were monitored by serum β-HCG, while one twin pregnancy with complete mole suffered invasive mole and received chemotherapy.
A strategy composed of selective clinicopathological screening, immunohistochemical interpretation and accurate genotyping is recommended for diagnostically challenging mixed-genomic POC of potential twin pregnancy with HM, especially to differentiate a non-molar mosaic conception from a partial mole.
本研究旨在通过组织病理学检查、p57 免疫染色评估和短串联重复序列基因分型,识别辅助生殖后因异常混合基因组妊娠产物(POC)而导致的双胞胎妊娠中同时存在的葡萄胎(HM)。
收集了 37 例疑似 HM 的患者,这些患者在体外受精后单独将两个胚胎移植到子宫中,并通过超声检查显示两个有囊胚但未发育的胚胎或一个有异常区域的囊胚。
30 例患者被诊断为单胎妊娠,其中 22 例为非葡萄胎妊娠,6 例为三体妊娠,1 例为纯合完全 HM,1 例为杂合部分 HM。尽管 6 例患者超声检查显示有两个囊胚,但空囊内的胚胎成分在转移后可能会消失。其他 7 例患者通过两个个体的等位基因基因型被认为是双胎妊娠。对于 p57 阳性一致的患者,过量的父系等位基因提示双胎妊娠中可能存在部分 HM。对于表现出分歧和/或不一致的 p57 免疫染色的患者,通过对不同绒毛群体的基因分型,分别证实了双胎妊娠中存在完全 HM 或镶嵌妊娠。这些患者通过血清 β-HCG 进行监测,其中一例完全 HM 的双胎妊娠发生侵袭性 HM 并接受了化疗。
对于具有 HM 的潜在双胎妊娠的混合基因组 POC 具有挑战性的诊断病例,建议采用选择性临床病理筛查、免疫组织化学解释和准确基因分型的策略,特别是用于区分非葡萄胎镶嵌妊娠和部分 HM。