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.

Incidence and outcome of gestational trophoblastic disease in lower Egypt

“…Morphologically, both complete mole and partial mole have distinct histopathological features; however, the subjective nature of the morphological characters may give rise to variation in diagnosis 33 . In particular when earlier evacuation is performed in the present ultrasound era, classic morphological features may be less distinct 34 . The differentiation between molar and non-molar gestations is usually clear in cases showing typical histological features, and in cases of complete mole this is confirmed by p57 immunohistochemistry 35 .…”

Single Nucleotide Polymorphism-Based Chromosomal Microarray Evaluation of Hydatidiform Moles: A US National Reference Laboratory Experience

“…Compared to POC results of another group [12], the prevalence of wgUPD in our study was similar (0.47% vs. 0.5%), but the prevalence of triploidy in our study was lower (3.9% vs. 6.3%). Aside from the rare recurrent CHM with a biparental diploid karyotype, which is an autosomal recessive disease called familial recurrent HM (FRHM) due to biallelic mutations in 2 genes: NLRP7 at 19q13.42 [15] [16], and more rarely, KHDC3L at 6q13 [17], the genetic abnormalities associated with cases of triploidy with PHM, and the wgUPD associated with CHM can be reliably detected by oligo-SNP based CMA; correlation with clinical findings, histopathological features, p57 (KIP2) immunohistochemistry, and genotyping results may ensure accurate classification in equivocal cases [14].…”

“…Determination of the underlying etiology in such cases may be difficult without a molecular assay that can also detect UPD 11p, such as molecular genotyping with short tandem repeat (STR) loci, or an SNP-based CMA. Xie et al reported some cases of CHM and PHM that were not suspected by experienced obstetricians [14]. Those unsuspected cases were diagnosed with an SNP-based CMA; the detection of such unsuspected cases may prove vital to alert clinicians of the risk of those patients to develop GTN.…”

Genome-wide single nucleotide polymorphism array analysis unveils the origin of heterozygous androgenetic complete moles

“…To the best of our knowledge, the present study is the largest and the first to report the uniparental disomic pattern of more than ten heterozygous CHMs in the entire genome. Some studies have used the SNP array to analyse hydatidiform mole 9,25–31 . CHMs were used as a mono-haploid genomic source material 25–28 .…”

“…CHMs were used as a mono-haploid genomic source material 25–28 . The SNP array was used as a tool for villous classification 9,30,31 . Bug et al .…”