Popescu-Hobeanu Gabriela, Cucu Mihai-Gabriel, Riza Anca-Lelia, Streata Ioana, Plesea Razvan Mihail, Dorobantu Stefania, Barbu Adina, Zorila Lucian George, Dinu Marina, Dijmarescu Anda Lorena, Tudorache Stefania, Iliescu Dominic, Burada Florin
Doctoral School, University of Medicine and Pharmacy of Craiova, Romania.
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, Romania.
Curr Health Sci J. 2025 Jan-Mar;51(1):62-71. doi: 10.12865/CHSJ.51.01.06. Epub 2025 Mar 31.
Early pregnancy loss (EPL) is the most common form of miscarriage and establishing its exact etiology is vital for the proper prognosis and management of possible future pregnancies. The aim of our study was to assess the incidence and types of chromosome abnormalities in product-of-conception (POC) samples analyzed by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR). Two hundred fifty-seven POC samples meeting EPL criteria were referred to the Human Genomics Laboratory of the University of Medicine and Pharmacy of Craiova, Romania. DNA was extracted from both POC tissue and maternal blood samples, while PCR products were migrated on the ABI3730xl platform. A total of 124 samples were successfully analyzed, 46 cases (37.1%) showing various types of abnormalities, while no aneuploidies were found in the remaining 78 samples (62.9%). The most common abnormalities were monosomy X, followed by triploidy, trisomy 18, 16 and 15. The basic QF-PCR kit had an overall detection rate of 25.8%, but the detection rate rose to 37.1% when employing the extended kit. Our study proves that QF-PCR can be used as a first approach in the genetic analysis of POC, followed by conventional karyotyping (KT) or Chromosomal Microarray Analysis (CMA) as follow-up. QF-PCR is able to identify maternal cell contamination, as well as provide timely results.
早期妊娠丢失（EPL）是流产最常见的形式，确定其确切病因对于未来可能妊娠的正确预后和管理至关重要。我们研究的目的是评估通过定量荧光聚合酶链反应（QF-PCR）分析的妊娠产物（POC）样本中染色体异常的发生率和类型。257份符合EPL标准的POC样本被送往罗马尼亚克拉约瓦医科药科大学人类基因组学实验室。从POC组织和母体血液样本中提取DNA，而PCR产物在ABI3730xl平台上进行迁移。总共成功分析了124份样本，46例（37.1%）显示出各种类型的异常，而其余78份样本（62.9%）未发现非整倍体。最常见的异常是X单体，其次是三倍体、18三体、16三体和15三体。基本的QF-PCR试剂盒总体检测率为25.8%，但使用扩展试剂盒时检测率升至37.1%。我们的研究证明，QF-PCR可作为POC基因分析的首选方法，随后可采用传统核型分析（KT）或染色体微阵列分析（CMA）作为后续检测。QF-PCR能够识别母体细胞污染，并能及时提供结果。
