Please wait a minute...
Clinical and Experimental Obstetrics & Gynecology  2020, Vol. 47 Issue (4): 490-495    DOI: 10.31083/j.ceog.2020.04.5249
Original Research Previous articles | Next articles
Clinical application of short tandem repeat polymorphism analysis in the differential diagnosis of early hydatidiform mole and hydropic abortion
J. Wang1, S.W. Chen1, *(), X.Y. Qin2, X.Z. Zheng3, P. Wang2, X.Y. Cai2
1Department of Family Planning, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100006, P.R. China
2Beijing Taipu-Shunkang Institute for Laboratory Medicine, 100006, P.R. China
3Department of Pathology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100006, P.R. China
Download:  PDF(1749KB)  ( 220 ) Full text   ( 10 )
Export:  BibTeX | EndNote (RIS)      
Abstract  

Objective: To determine the clinical differential diagnosis value of short tandem repeat polymorphism (STR) analysis in early hydatidiform moles (HMs) and non-molar gestations. Methods: Four hundred eighty-one patients with suspected HMs were examined using traditional pathology methods and STR analysis. The value of the STR method in distinguishing HMs from non-molar gestations was evaluated. Results: Among 481 patients with suspected HMs, 177 were diagnosed with HMs and 304 with non-molar gestations based on histopathologic examination. The STR genotypic results show that 151 patients were diagnosed with HMs, including 63 complete HMs and 88 partial HMs. Three hundred thirty patients were diagnosed with non-molar gestations, including 43 patients with chromosome abnormalities. Among 63 complete HMs, 56 were monosyllabic and 7 were dispermic. All 88 partial HMs were dispermic. The histopathologic diagnoses in 84 patients were not in agreement with STR analyses. Among the 84 cases, 29 were incorrectly diagnosed with non-molar gestations and the others were incorrectly diagnosed with HMs by histopathologic examinations. The chi-test result demonstrated that the two methods were quite different. Conclusion: STR polymorphism analysis is a rapid, simple, and accurate method that can be utilized for accurate diagnosis of early HMs and hydropic abortions.

Key words:  Short tandem repeat polymorphism analysis      Missed abortion      Hydatidiform mole      Hydropic abortion     
Submitted:  16 April 2019      Accepted:  22 July 2019      Published:  15 August 2020     
Fund: PX2016070/Beijing Municipal Administration of Hospitals Incubating Program
*Corresponding Author(s):  S.W. Chen     E-mail:  sw_chen@aliyun.com

Cite this article: 

J. Wang, S.W. Chen, X.Y. Qin, X.Z. Zheng, P. Wang, X.Y. Cai. Clinical application of short tandem repeat polymorphism analysis in the differential diagnosis of early hydatidiform mole and hydropic abortion. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(4): 490-495.

URL: 

https://ceog.imrpress.com/EN/10.31083/j.ceog.2020.04.5249     OR     https://ceog.imrpress.com/EN/Y2020/V47/I4/490

Table 1  — Summary of results.
HM(n) Non-molar gestation(n)
Histologic Diagnosis 177 304
Molecular
Diagnosis(STR)
151 330
CHM(n) PHM(n) Normal diploid (n) Trisomy (n)
MCM DCM MPM DPM Trisomy 16 Trisomy 8 Trisomy 3 Trisomy 13 Trisomy 18 Trisomy 21 Trisomy 7 Trisomy 2 Trisomy 4 Triploid
56 7 0 88 287 20 4 4 4 3 3 2 1 1 1
Table 2  — Rate of missed diagnosis and Misdiagnosis rate.
HM Non-molar gestation
Histologic
Diagnosis (n)
177 304
Molecular Diagnosis(STR) (n) 151 330
Consistent (n) 122 275
Rate of missed diagnosis (n,%) 29, 19.21 55, 16.67
Misdiagnosis rate (n,%) 55, 31.08 29, 9.54
p-value 0.00024
Figure 1.  — Case 1: Complete Hydatidiform Mole. The patient was 22 years old, first pregnancy, 9 menopause weeks, serum β-HCG > 105 U/L before surgery, and vaginal bleeding absent. It had been incorrectly diagnosed as a non-molar gestation by the pathologic features (a). It is demonstrating exclusively paternal alleles in the villous tissue [top]. Normal biallelic profiles are seen in the maternal endometrium [bottom] (b). p57 immunohistochemical stain shows absence of staining in the villous stroma and cytotrophoblast (c).

Figure 2.  — Case 2: Partial hydatidiform mole. The patient was 32 years old, first pregnancy, 8 menopause weeks, serum β-HCG = 55307.5 U/L before surgery, and vaginal bleeding absent. It had been incorrectly diagnosed as a non-molar gestation by the pathologic features (a). It harbors diandric heterozygous paternal alleles in addition to one maternal allele at every locus [top]. Normal biallelic profiles seen in the maternal endometrium [bottom] (b). p57 immunohistochemical stain is positive (c).

[1] Case A.M., Wilson S., Colgan T.J., Greenblatt E.M.: “Fertility-sparingsurgery, with subsequent pregnancy, in persistent gestational trophoblasticneoplasia: case report”. Hum. Reprod., 2001, 16, 360-364.
doi: 10.1093/humrep/16.2.360 pmid: 11157835
[2] Openshaw M.R., Harvey R.A., Sebire N.J., Kaur B., Sarwar N., Seckl M.J., Fisher R.A.: “Circulating Cell Free DNA in the Diagnosisof Trophoblastic Tumors”. EBioMedicine, 2015, 4, 146-152.
doi: 10.1016/j.ebiom.2015.12.022 pmid: 26981554
[3] Shaaban A.M., Rezvani M., Haroun R.R., Kennedy A.M., ElsayesK. M., Olpin J.D., et al.: “Gestational trophoblastic disease: clinical and imaging features”. Radiographics, 2017, 37, 681-700.
doi: 10.1148/rg.2017160140 pmid: 28287945
[4] Hui P.: “Gestational Trophoblastic Disease”. In: Hui P. (ed). Diagnosticand Molecular Genetic Pathology. New York: Humana PressInc, 2012, 161-178.
[5] Fisher R.A., Hodges M.D., Rees H.C.: “The maternally transcribedgene p57(KIP2)(CDNK1C) is abnormally expressed in both androgeneticand biparental complete hydatidiform moles”. Hum. Mol. Genet., 2002, 11, 3267-3272.
[6] Chilosi M., Piazzola E., Lestani M.: “Differential expression ofp57kip2, a maternally imprinted cdk inhibitor, in normal human placentaand gestational trophoblastic disease”. Lab. Invest., 1998, 78, 269-276.
pmid: 9520940
[7] Hui P., Buza N., Murphy K.M., Ronnett B.M.: “Hydatidiform Moles: genetic basis and precision diagnosis”. Annu. Rev. Pathol., 2017, 12, 449-485.
doi: 10.1146/annurev-pathol-052016-100237 pmid: 28135560
[8] Gomes I., Pereira P.J.P., Harms S., Oliveira A.M., Schneider P.M., Brehm A.: “Genetic characterization of Guinea-Bissau using a 12 XchromosomalSTR system: Inferences from a multiethnic population”. Forensic Sci. Int. Genet., 2017, 31, 89-94.
doi: 10.1016/j.fsigen.2017.08.016 pmid: 28858674
[9] Buza N., Hui P.: “Immunohistochemistry and other ancillary techniquesin the diagnosis of gestational trophoblastic diseases”. Semin. Diagn. Pathol., 2014, 31, 223-232.
[10] Zheng X., Wu B., Buza N., Hui P.: “Ancillary techniques in refiningthe diagnosis of hydatidiform mole”. Zhonghua Bing Li Xue Za Zhi, 2015, 44, 15-20.
pmid: 25765025
[11] Hunter A., Tussis L., MacBeth A.: “The presence of anxiety, depressionand stress in women and their partners during pregnanciesfollowing perinatal loss: A meta-analysis”. J. Affect. Disord., 2017, 223, 153-164.
doi: 10.1016/j.jad.2017.07.004 pmid: 28755623
[1] G.L. Liu, S.C. He, W.J. Shan, H.Y. Chen. Repetitive hydatidiform mole in the cesarean scar: a case report and literature review[J]. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(4): 607-610.
[2] E. Ozbasli, O. Takmaz, H. Gurkan, Y. Alanay, M. Gungor, F.S. Dede. Recurrent hydatidiform mole: when to stop?[J]. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(3): 424-426.
[3] S. Yaman, N. Hançerlioğulları, A. Tokmak, S. Ayhan, M. Alış ık, Ö. Erel. Impaired serum thiol/disulphide homeostasis may be another explanation for the pathogenesis of missed abortion[J]. Clinical and Experimental Obstetrics & Gynecology, 2019, 46(1): 50-54.
[4] Liyan Zhang, Xiufen Zhao, Xiao Zhou. A study of the relationship between thyroid autoantibodies and early missed abortion[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(3): 396-399.
[5] A. Kolusari, A. Cebi, E. Akgun, H.H. Alp, E. Bakan. May supplementation of coenzyme Q10 help prevent development of hydatidiform mole?[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(3): 398-402.
[6] E. Rodriguez, J.O. Zamora, I.R. Monfort, L. Rubert, S. Fuster, V. Diago, A. Perales. Unusual twin pregnancy: complete hydatidiform mole with coexistent normal fetus[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(3): 492-493.
No Suggested Reading articles found!