Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage

Ultrasound in Obstetrics and Gynecology

Volumn 46, Issue 4, 2015, Pages 472-477

  Liu, S ^a   Song, L ^a   Cram, D S ^b   Xiong, L ^a   Wang, K ^a   Wu, R ^a   Liu, J ^a   Deng, K ^a   Jia, B ^a   Zhong, M ^a   Yang, F ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b Berry Genomics   (China)

Author keywords

aneuploidy; copy number variation sequencing; karyotyping; miscarriage

Indexed keywords

ANEUPLOIDY; CHROMOSOME ABERRATION; CHROMOSOME DISORDERS; COMPARATIVE STUDY; COPY NUMBER VARIATION; FEMALE; FIRST TRIMESTER PREGNANCY; GENETICS; HUMAN; KARYOTYPING; MALE; MOLECULAR GENETICS; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; TRISOMY;

ABORTION, SPONTANEOUS; ANEUPLOIDY; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; KARYOTYPING; MALE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; TRISOMY;

EID: 84942876400     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.14849     Document Type: Article

References (31)

1. Hassold T, Hunt P,. To err (meiotically) is human: genesis of human aneuploidy. Nat Rev Genet 2001; 2: 280-291.
2. Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA, Jacobs PA,. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 1980; 44: 151-178.
3. Suzumori N, Sugiura-Ogasawara M,. Genetic factors as a cause of miscarriage. Curr Med Chem 2010; 17: 3431-3437.
4. Lathi RB, Gray Hazard FK, Heerema-McKenney A, Taylor J, Chueh JT,. First trimester miscarriage evaluation. Semin Reprod Med 2011; 29: 463-469.
5. van den Berg MM, van Maarle MC, van Wely M, Goddijn M,. Genetics of early miscarriage. Biochim Biophys Acta 2012; 1822: 1951-1959.
6. Levy B, Sigurjonsson S, Pettersen B, Maisenbacher MK, Hall MP, Demko Z, Lathi RB, Tao R, Aggarwal V, Rabinowitz M,. Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstet Gynecol 2014; 124 (2 Pt 1): 202-209.
7. Lebedev I., Mosaic aneuploidy in early fetal losses. Cytogenet Genome Res 2011; 133: 169-183.
8. Byrne JL, Ward K,. Genetic factors in recurrent abortion. Clin Obstet Gynecol 1994; 37: 693-704.
9. Brown S., Miscarriage and its associations. Semin Reprod Med 2008; 26: 391-400.
10. Trask BJ,. Human cytogenetics: 46 chromosomes, 46 years and counting. Nat Rev Genet 2002; 3: 769-778.
11. Smeets DF,. Historical prospective of human cytogenetics: from microscope to microarray. Clin Biochem 2004; 37: 439-446
12. Riegel M., Human molecular cytogenetics: From cells to nucleotides. Genet Mol Biol 2014; 37 (1 Suppl): 194-209.
13. Bug S, Solfrank B, Schmitz F, Pricelius J, Stecher M, Craig A, Botcherby M, Nevinny-Stickel-Hinzpeter C,. Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy. Mol Cytogenet 2014; 7: 43.
14. Dhillon RK, Hillman SC, Morris RK, McMullan D, Williams D, Coomarasamy A, Kilby MD,. Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis. BJOG 2014; 121: 11-21.
15. Ong FS, Lin JC, Das K, Grosu DS, Fan JB,. Translational utility of next-generation sequencing. Genomics 2013; 102: 137-139.
16. Liang D, Peng Y, Lv W, Deng L, Zhang Y, Li H, Yang P, Zhang J, Song Z, Xu G, Cram DS, Wu L,. Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes. J Mol Diagn 2014; 16: 519-526.
17. Carroll SG, Davies T, Kyle, PM, Abdel-Fattah S, Soothill PW,. Fetal karyotyping by chorionic villus sampling after the first trimester. Br J Obstet Gynaecol 1999; 106: 1035-1040.
18. Wang Y, Chen Y, Tian F, Zhang J, Song Z, Wu Y, Han X, Hu W, Ma D, Cram D, Cheng W,. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014; 60: 251-259.
19. Liang D, Lv W, Wang H, Xu L, Liu J, Li H, Hu L, Peng Y, Wu L,. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013; 33: 409-415.
20. Li H, Durbin R,. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25: 1754-1760.
21. Johnston JJ, Biesecker LG,. Databases of genomic variation and phenotypes: existing resources and future needs. Hum Mol Genet 2013; 22 (R1): R27-31.
22. Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C,. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 2004; 74: 1168-1174.
23. Zhang YX, Zhang YP, Gu Y, Guan FJ, Li SL, Xie JS, Shen Y, Wu BL, Ju W, Jenkins EC, Brown WT, Zhong N,. Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and array CGH. Clin Genet 2009; 75: 133-140.
24. Gao J, Liu C, Yao F, Hao N, Zhou J, Zhou Q, Zhang L, Liu X, Bian X, Liu J,. Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion. Mol Cytogenet 2012; 5: 33.
25. Baxter L, Adayapalam N,. A comparative study of standard cytogenetic evaluation and molecular karyotyping for products of conception. Diagn Mol Pathol 2013; 22: 228-235.
26. Viaggi CD, Cavani S, Malacarne M, Floriddia F, Zerega G, Baldo C, Mogni M, Castagnetta M, Piombo G, Coviello DA, Camandona F, Lijoi D, Insegno W, Traversa M, Pierluigi M,. First-trimester euploid miscarriages analysed by array-CGH. J Appl Genet 2013; 54: 353-359.
27. Hsu LY,. Prenatal diagnosis of 45,X/46,XY mosaicism-a review and update. Prenat Diagn 1989; 9: 31-48.
28. Worton RG, Stem R,. A Canadian collaborative study of mosaicism in amniotic fluid cell cultures. Prenat Diagn 1984; 4: 131-134.
29. Schreck RR, Falik-Borenstein Z, Hirata G,. Chromosomal mosaicim in chorionic villus sampling. Clin Perinatol 1990; 17: 667-688.
30. Wang Y, Zhu J, Chen Y, Lu S, Chen B, Zhao X, Wu Y, Han X, Ma D, Liu Z, Cram D, Cheng W,. Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing. Prenat Diagn 2013; 33: 1207-1210.
31. Mao J, Wang T, Wang BJ, Liu YH, Li H, Zhang J, Cram D, Chen Y,. Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy. Clin Chim Acta 2014; 433: 190-193.