关键词: SNP-based complete hydatidiform mole molar pregnancy noninvasive prenatal testing twin pregnancy

来  源:   DOI:10.1055/s-0043-1774727   PDF(Pubmed)

Abstract:
Complete hydatidiform mole with coexisting fetus (CHMCF) is rare, and diagnosis is challenging due to limited data. Here, we present the case of a patient with noninvasive prenatal test (NIPT) resulting in \"likely molar pregnancy\" in the second trimester. Subsequent ultrasound confirmed a cystic appearing portion of the placenta. At 22 weeks, the patient delivered a demised fetus and two placentas. Pathology was consistent with CHMCF. This case is the first to show primary detection of a CHMCF with single-nucleotide polymorphism (SNP)-based NIPT prior to ultrasound identification. Our case suggests the use of SNP-based NIPT as an alternative noninvasive method to guide shared decision-making and clinical management for patients with this diagnosis.
摘要:
完全葡萄胎与胎儿共存(CHMCF)很少见,由于数据有限,诊断具有挑战性。这里,我们介绍了1例患者在妊娠中期接受非侵入性产前检测(NIPT),导致"可能的磨牙妊娠".随后的超声证实了胎盘的囊性外观部分。22周时,病人分娩了一个死亡胎儿和两个胎盘。病理符合CHMCF。这种情况是第一个显示在超声鉴定之前对具有基于单核苷酸多态性(SNP)的NIPT的CHMCF进行初步检测的病例。我们的案例表明,使用基于SNP的NIPT作为一种替代的非侵入性方法来指导具有这种诊断的患者的共同决策和临床管理。
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