Molecular and cytogenetic analysis in stillbirth: Results from 481 consecutive cases

Fetal Diagnosis and Therapy

Volumn 36, Issue 4, 2014, Pages 326-332

  Sahlin, Ellika ^a   Gustavsson, Peter ^a   Liedén, Agne ^a   Papadogiannakis, Nikos ^b   Bjäreborn, Linus ^a   Pettersson, Karin ^a   Nordenskjöld, Magnus ^a   Iwarsson, Erik ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Chromosomal abnormalities; Comparative genomic hybridization; Cytogenetics; Fetal karyotype; Intrauterine death; Maternal age; Quantitative fluorescent polymerase chain reaction

Indexed keywords

MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 6 PROTEIN; MYOSIN HEAVY CHAIN 7 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; FEMALE; FETUS BLOOD; GESTATIONAL AGE; HUMAN; KARYOTYPE; KARYOTYPE 46,XX; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MONOSOMY X; MOSAICISM; POLYMERASE CHAIN REACTION; STILLBIRTH; TETRAPLOIDY; TRISOMY 16; TRISOMY 18; TRISOMY 21;

EID: 84919691734     PISSN: 10153837     EISSN: 14219964     Source Type: Journal    
DOI: 10.1159/000361017     Document Type: Article

References (27)

1. Petersson K, Bremme K, Bottinga R, Hofsjo A, Hulthen-Varli I, Kublickas M, Norman M, Papadogiannakis N, Wanggren K, Wolff K: Diagnostic evaluation of intrauterine fetal deaths in Stockholm 1998-99. Acta Obstet Gynecol Scand 2002;81:284-292.
2. Varli IH, Petersson K, Bottinga R, Bremme K, Hofsjo A, Holm M, Holste C, Kublickas M, Norman M, Pilo C, Roos N, Sundberg A, Wolff K, Papadogiannakis N: The Stockholm classification of stillbirth. Acta Obstet Gynecol Scand 2008;87:1202-1212.
3. Wapner RJ: Genetics of stillbirth. Clin Obstet Gynecol 2010;53:628-634.
4. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE: A copy number variation morbidity map of developmental delay. Nat Genet 2011;43:838-846.
5. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-764.
6. Reddy UM, Page GP, Saade GR, Silver RM, Thorsten VR, Parker CB, Pinar H, Willinger M, Stoll BJ, Heim-Hall J, Varner MW, Goldenberg RL, Bukowski R, Wapner RJ, Drews-Botsch CD, O'Brien BM, Dudley DJ, Levy B, Network NSCR: Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med 2012;367:2185-2193.
7. Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM: Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004;12:907-915.
8. Donaghue C, Roberts A, Mann K, Ogilvie CM: Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance. Prenat Diagn 2003;23:201-210.
9. Gijsbers AC, Schoumans J, Ruivenkamp CA: Interpretation of array comparative genome hybridization data: a major challenge. Cytogenet Genome Res 2011;135:222-227.
10. Posch MG, Waldmuller S, Muller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Ozcelik C: Cardiac á-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PLoS One 2011;6:e28872.
11. Granados-Riveron JT, Ghosh TK, Pope M, Bu'Lock F, Thornborough C, Eason J, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Armour JA, David Brook J: Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet 2010;19:4007-4016.
12. Elsea SH, Girirajan S: Smith-Magenis syndrome. Eur J Hum Genet 2008;16:412-421.
13. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ, Autism C: Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667-675.
14. Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW: Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet 2010;47:195-203.
15. Crespi BJ, Crofts HJ: Association testing of copy number variants in schizophrenia and autism spectrum disorders. J Neurodev Disord 2012;4:15.
16. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR: Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010;47:332-341.
17. McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, De Bakker PI, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, Veitch J, Collins PJ, Handsaker R, Lincoln S, Nizzari M, Blume J, Jones KW, Rava R, Daly MJ, Gabriel SB, Altshuler D: Integrated detection and populationgenetic analysis of SNPs and copy number variation. Nat Genet 2008;40:1166-1174.
18. Jun. G, Moncaster JA, Koutras C, Seshadri S, Buros J, McKee AC, Levesque G, Wolf PA, St George-Hyslop P, Goldstein LE, Farrer LA: Delta-catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. PLoS One 2012;7:e43728.
19. Medina M, Marinescu RC, Overhauser J, Kosik KS: Hemizygosity of ä-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 2000;63:157-164.
20. Hoffman MC, Jeffers S, Carter J, Duthely L, Cotter A, Gonzalez-Quintero VH: Pregnancy at or beyond age 40 years is associated with an increased risk of fetal death and other adverse outcomes. Am J Obstet Gynecol 2007;196:e11-e13.
21. O'Leary CM, Bower C, Knuiman M, Stanley FJ: Changing risks of stillbirth and neonatal mortality associated with maternal age in Western Australia, 1984-2003. Paediatr Perinat Epidemiol 2007;21:541-549.
22. Flenady V, Koopmans L, Middleton P, Froen JF, Smith GC, Gibbons K, Coory M, Gordon A, Ellwood D, McIntyre HD, Fretts R, Ezzati M: Major risk factors for stillbirth in high-income countries: a systematic review and metaanalysis. Lancet, 2011;377:1331-1340.
23. Kenny LC, Lavender T, McNamee R, O'Neill SM, Mills T, Khashan AS: Advanced maternal age and adverse pregnancy outcome: evidence from a large contemporary cohort. PLoS One 2013;8:e56583.
24. Reddy UM, Ko CW, Willinger M: Maternal age and the risk of stillbirth throughout pregnancy in the United States. Am J Obstet Gynecol 2006;195:764-770.
25. Rosenstein MG, Cheng YW, Snowden JM, Nicholson JM, Caughey AB: Risk of stillbirth and infant death stratified by gestational age. Obstet Gynecol 2012;120:76-82.
26. Bhattacharya S, Prescott GJ, Black M, Shetty A: Recurrence risk of stillbirth in a second pregnancy. BJOG 2010;117:1243-1247.
27. Sharma PP, Salihu HM, Kirby RS: Stillbirth recurrence in a population of relatively lowrisk mothers. Paediatr Perinat Epidemiol 2007;21(suppl 1):24-30.