title: Single nucleotide polymorphism-based microarray analysis for the diagnosis of hydatidiform moles.
abstract: In clinical diagnostics, single nucleotide polymorphism (SNP)-based microarray analysis enables the detection of copy number variations (CNVs), as well as copy number neutral regions, that are absent of heterozygosity throughout the genome. The aim of the present study was to evaluate the effectiveness and sensitivity of SNP‑based microarray analysis in the diagnosis of hydatidiform mole (HM). By using whole‑genome SNP microarray analysis, villous genotypes were detected, and the ploidy of villous tissue was determined to identify HMs. A total of 66 villous tissues and two twin tissues were assessed in the present study. Among these samples, 11 were triploid, one was tetraploid, 23 were abnormal aneuploidy, three were complete genome homozygosity, and the remaining ones were normal ploidy. The most noteworthy finding of the present study was the identification of six partial HMs and three complete HMs from those samples that were not identified as being HMs on the basis of the initial diagnosis of experienced obstetricians. This study has demonstrated that the application of an SNP‑based microarray analysis was able to increase the sensitivity of diagnosis for HMs with partial and complete HMs, which makes the identification of these diseases at an early gestational age possible.
authors.affiliation: Fetal Medicine Center, The First Affiliated Hospital of Sun Yat‑sen University, Guangzhou, Guangdong 510150, P.R. China.
authors.forename: Yingjun
authors.initials: Y
authors.lastname: Xie
authors.affiliation: Department of Pathology, The Huizhou Municipal Center People Hospital, Huizhou, Guangdong 516001, P.R. China.
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Pei
authors.affiliation: Department of Pathology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Dong
authors.affiliation: Department of Pathology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors.forename: Huiqun
authors.initials: H
authors.lastname: Wu
authors.affiliation: Fetal Medicine Center, The First Affiliated Hospital of Sun Yat‑sen University, Guangzhou, Guangdong 510150, P.R. China.
authors.forename: Jianzhu
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Pathology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors.forename: Huijuan
authors.initials: H
authors.lastname: Shi
authors.affiliation: Tianjin Public Security Traffic Management Bureau, Tianjin 300241, P.R. China.
authors.forename: Xuying
authors.initials: X
authors.lastname: Zhuang
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R. China.
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Sun
authors.affiliation: Experimental Animal Center, Research Institute for National Health and Family Planning Commission, Beijing 100081, P.R. China.
authors.forename: Jialing
authors.initials: J
authors.lastname: He
mesh_terms: D000328:Adult; D005260:Female; D005838:Genotype; D005865:Gestational Age; D006801:Humans; D006828:Hydatidiform Mole / Q000175:diagnosis* / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D018895:Microsatellite Repeats; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy