Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review |
Park, Ji Eun
(Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, College of Medicine, Gyeongsang National University)
Park, Ji Kwon (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, College of Medicine, Gyeongsang National University) Kang, Min Young (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, College of Medicine, Gyeongsang National University) Jo, Hyen Chul (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, College of Medicine, Gyeongsang National University) Cho, In Ae (Department of Obstetrics and Gynecology, Gyeongsang National University Hospital, College of Medicine, Gyeongsang National University) Baek, Jong Chul (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, College of Medicine, Gyeongsang National University) |
1 | Levy B, Burnside RD. Are all chromosome microarrays the same? What clinicians need to know. Prenat Diagn 2019;39:157-64. DOI |
2 | McGillivray G, Rosenfeld JA, McKinlay Gardner RJ, Gillam LH. Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenat Diagn 2012;32:389-95. DOI |
3 | Resta N, Memo L. Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? J Matern Fetal Neonatal Med 2012;25 Suppl 4:124-6. |
4 | Wong LP, Ong RT, Poh WT, Liu X, Chen P, Li R, et al. Deep whole-genome sequencing of 100 southeast Asian Malays. Am J Hum Genet 2013;92:52-66. DOI |
5 | Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 1980;44:151-78. DOI |
6 | Baumer A, Balmer D, Binkert F, Schinzel A. Parental origin and mechanisms of formation of triploidy: a study of 25 cases. Eur J Hum Genet 2000;8:911-7. DOI |
7 | Brancati F, Mingarelli R, Dallapiccola B. Recurrent triploidy of maternal origin. Eur J Hum Genet 2003;11:972-4. DOI |
8 | Huang B, Prensky L, Thangavelu M, Main D, Wang S. Three consecutive triploidy pregnancies in a woman: genetic predisposition? Eur J Hum Genet 2004;12:985-6. DOI |
9 | Pergament E, Confino E, Zhang JX, Roscetti L, Xien Chen P, Wellman D. Recurrent triploidy of maternal origin. Prenat Diagn 2000;20:561-3. DOI |
10 | Filges I, Manokhina I, Penaherrera MS, McFadden DE, Louie K, Nosova E, et al. Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants. Mol Hum Reprod 2015;21:339-46. DOI |
11 | South ST, Lee C, Lamb AN, Higgins AW, Kearney HM; Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med 2013;15:901-9. DOI |
12 | Steer C, Campbell S, Davies M, Mason B, Collins W. Spontaneous abortion rates after natural and assisted conception. BMJ 1989;299:1317-8. DOI |
13 | Hassold TJ. A cytogenetic study of repeated spontaneous abortions. Am J Hum Genet 1980;32:723-30. |
14 | Rosenfeld JA, Tucker ME, Escobar LF, Neill NJ, Torchia BS, McDaniel LD, et al. Diagnostic utility of microarray testing in pregnancy loss. Ultrasound Obstet Gynecol 2015;46:478-86. DOI |
15 | Soler A, Morales C, Mademont-Soler I, Margarit E, Borrell A, Borobio V, et al. Overview of chromosome abnormalities in first trimester miscarriages: a series of 1,011 consecutive chorionic villi sample karyotypes. Cytogenet Genome Res 2017;152:81-9. DOI |
16 | Sahoo T, Dzidic N, Strecker MN, Commander S, Travis MK, Doherty C, et al. Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genet Med 2017;19:83-9. DOI |
17 | Dugoff L, Norton ME, Kuller JA; Society for Maternal-Fetal Medicine (SMFM). The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol 2016;215:B2-9. DOI |
18 | American College of Obstetricians and Gynecologists Committee on Genetics. Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 2013;122:1374-7. DOI |
19 | American College of Obstetricians and Gynecologists' Committee on Practice Bulletins-Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Practice bulletin no. 162: prenatal diagnostic testing for genetic disorders. Obstet Gynecol 2016;127:e108-22. DOI |
20 | Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril 2018;109:201-12. DOI |
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