Single nucleotide polymorphism-based microarray analysis for the diagnosis of hydatidiform moles

Xie,Yingjun; Pei,Xiaojuan; Dong,Yu; Wu,Huiqun; Wu,Jianzhu; Shi,Huijuan; Zhuang,Xuying; Sun,Xiaofang; He,Jialing

doi:10.3892/mmr.2016.5211

Single nucleotide polymorphism-based microarray analysis for the diagnosis of hydatidiform moles

Authors:
- Yingjun Xie
- Xiaojuan Pei
- Yu Dong
- Huiqun Wu
- Jianzhu Wu
- Huijuan Shi
- Xuying Zhuang
- Xiaofang Sun
- Jialing He
View Affiliations

Affiliations: Fetal Medicine Center, The First Affiliated Hospital of Sun Yat‑sen University, Guangzhou, Guangdong 510150, P.R. China, Department of Pathology, The Huizhou Municipal Center People Hospital, Huizhou, Guangdong 516001, P.R. China, Department of Pathology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China, Tianjin Public Security Traffic Management Bureau, Tianjin 300241, P.R. China, 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, Experimental Animal Center, Research Institute for National Health and Family Planning Commission, Beijing 100081, P.R. China
Published online on: May 5, 2016 https://doi.org/10.3892/mmr.2016.5211
Pages: 137-144
Copyright: © Xie et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

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.

View Figures

View References

1	Steigrad SJ: Epidemiology of gestational trophoblastic diseases. Best Pract Res Clin Obstet Gynaecol. 17:837–847. 2003. View Article : Google Scholar : PubMed/NCBI
2	Benirschke K and Kaufmann P: Molar Pregnancies In Pathology of the Human Placenta. Springer; New York: pp. 653–685. 1995, View Article : Google Scholar
3	Benirschke K and Masliah E: The placenta in multiple pregnancy: Outstanding issues. Reprod Fertil Dev. 13:615–622. 2001. View Article : Google Scholar
4	Seckl MJ, Sebire NJ and Berkowitz RS: Gestational trophoblastic disease. Lancet. 376:717–729. 2010. View Article : Google Scholar : PubMed/NCBI
5	Seckl MJ, Fisher RA, Salerno G, Rees H, Paradinas FJ, Foskett M and Newlands ES: Choriocarcinoma and partial hydatidiform moles. Lancet. 356:36–39. 2000. View Article : Google Scholar : PubMed/NCBI
6	Sebire NJ and Rees H: Diagnosis of gestational trophoblastic disease in early pregnancy. Current Diagnostic Pathology. 8:430–440. 2002. View Article : Google Scholar
7	Sebire NJ, Fisher RA and Rees HC: Histopathological diagnosis of partial and complete hydatidiform mole in the first trimester of pregnancy. Pediatr Dev Pathol. 6:69–77. 2003. View Article : Google Scholar
8	Szulman AE and Surti U: The syndromes of hydatidiform mole. II. Morphologic evolution of the complete and partial mole. Am J Obstet Gynecol. 132:20–27. 1978. View Article : Google Scholar : PubMed/NCBI
9	Vassilakos P, Riotton G and Kajii T: Hydatidiform mole: Two entities. A morphologic and cytogenetic study with some clinical consideration. Am J Obstet Gynecol. 127:167–170. 1977.PubMed/NCBI
10	Kirk E, Papageorghiou AT, Condous G, Bottomley C and Bourne T: The accuracy of first trimester ultrasound in the diagnosis of hydatidiform mole. Ultrasound Obstet Gynecol. 29:70–75. 2007. View Article : Google Scholar : PubMed/NCBI
11	Zhang YX, Zhang YP, Gu Y, Guan FJ, Li SL, Xie JS, Shen Y, Wu BL, Ju W, Jenkins EC, et al: Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH. Clin Genet. 75:133–140. 2009. View Article : Google Scholar : PubMed/NCBI
12	Kearney HM, Kearney JB and Conlin LK: Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: Consanguinity, uniparental disomy and recessive single-gene mutations. Clin Lab Med. 31:595–613. 2011. View Article : Google Scholar
13	Jobanputra V, Sobrino A, Kinney A, Kline J and Warburton D: Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions. Hum Reprod. 17:1166–1170. 2002. View Article : Google Scholar : PubMed/NCBI
14	Furtado LV, Paxton CN, Jama MA, Tripp SR, Wilson AR, Lyon E, Jarboe EA, Thaker HM and Geiersbach KB: Diagnostic utility of microsatellite genotyping for molar pregnancy testing. Arch Pathol Lab Med. 137:55–63. 2013. View Article : Google Scholar : PubMed/NCBI
15	Chiang S, Fazlollahi L, Nguyen A, Betensky RA, Roberts DJ and Iafrate AJ: Diagnosis of hydatidiform moles by polymorphic deletion probe fluorescence in situ hybridization. J Mol Diagn. 13:406–415. 2011. View Article : Google Scholar : PubMed/NCBI
16	Menten B, Swerts K, Delle Chiaie B, Janssens S, Buysse K, Philippé J and Speleman F: Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples. BMC Med Genet. 10:892009. View Article : Google Scholar : PubMed/NCBI
17	Robberecht C, Schuddinck V, Fryns JP and Vermeesch JR: Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls. Genet Med. 11:646–654. 2009. View Article : Google Scholar : PubMed/NCBI
18	Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJ, Wareham NJ, et al: Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nat Genet. 45:513–517. 2013. View Article : Google Scholar : PubMed/NCBI
19	Winchester L and Ragoussis J: Algorithm implementation for CNV discovery using Affymetrix and Illumina SNP array data. Methods Mol Biol. 838:291–310. 2012. View Article : Google Scholar : PubMed/NCBI
20	Fowler DJ, Lindsay I, Seckl MJ and Sebire NJ: Histomorphometric features of hydatidiform moles in early pregnancy: Relationship to detectability by ultrasound examination. Ultrasound Obstet Gynecol. 29:76–80. 2007. View Article : Google Scholar
21	Fowler DJ, Lindsay I, Seckl MJ and Sebire NJ: Routine pre-evacuation ultrasound diagnosis of hydatidiform mole: Experience of more than 1000 cases from a regional referral center. Ultrasound Obstet Gynecol. 27:56–60. 2006. View Article : Google Scholar
22	Grinschgl I, Mannweiler S, Holzapfel-Bauer M, Pferschy U, Hoefler G and Guertl B: The role of morphology in combination with ploidy analysis in characterizing early gestational abortion. Virchows Arch. 462:175–182. 2013. View Article : Google Scholar
23	Kipp BR, Ketterling RP, Oberg TN, Cousin MA, Plagge AM, Wiktor AE, Ihrke JM, Meyers CH, Morice WG, Halling KC and Clayton AC: Comparison of fluorescence in situ hybridization, p57 immunostaining, flow cytometry and digital image analysis for diagnosing molar and nonmolar products of conception. Am J Clin Pathol. 133:196–204. 2010. View Article : Google Scholar : PubMed/NCBI
24	Butler JM: Short tandem repeat typing technologies used in human identity testing. BioTechniques. 43:ii–v. 2007. View Article : Google Scholar : PubMed/NCBI
25	Murphy KM, McConnell TG, Hafez MJ, Vang R and Ronnett BM: Molecular genotyping of hydatidiform moles: Analytic validation of a multiplex short tandem repeat assay. J Mol Diagn. 11:598–605. 2009. View Article : Google Scholar : PubMed/NCBI
26	Popiolek DA, Yee H, Mittal K, Chiriboga L, Prinz MK, Caragine TA and Budimlija ZM: Multiplex short tandem repeat DNA analysis confirms the accuracy of p57 (KIP2) immunostaining in the diagnosis of complete hydatidiform mole. Human Pathol. 37:1426–1434. 2006. View Article : Google Scholar
27	McConnell TG, Murphy KM, Hafez M, Vang R and Ronnett BM: Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: Validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach. Am J Surg Pathol. 33:805–817. 2009. View Article : Google Scholar : PubMed/NCBI
28	Daniely M, Aviram-Goldring A, Barkai G and Goldman B: Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Human Reprod. 13:805–809. 1998. View Article : Google Scholar
29	Lomax B, Tang S, Separovic E, Phillips D, Hillard E, Thomson T and Kalousek DK: Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. Am J Hum Genet. 66:1516–1521. 2000. View Article : Google Scholar : PubMed/NCBI
30	Schwartz S: Clinical utility of single nucleotide polymorphism arrays. Clin Lab Med. 31:581–594. 2011. View Article : Google Scholar : PubMed/NCBI
31	Zaragoza MV, Surti U, Redline RW, Millie E, Chakravarti A and Hassold TJ: Parental origin and phenotype of triploidy in spontaneous abortions: Predominance of diandry and association with the partial hydatidiform mole. Am J Hum Genet. 66:1807–1820. 2000. View Article : Google Scholar : PubMed/NCBI
32	Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H and Spinner NB: Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 19:1263–1275. 2010. View Article : Google Scholar : PubMed/NCBI