Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis

Prenatal Diagnosis

Volumn 34, Issue 8, 2014, Pages 739-747

  Battaglia, Paola ^a   Baroncini, Anna ^a   Mattarozzi, Angela ^b   Baccolini, Ilaria ^b   Capucci, Antonella ^a   Spada, Francesca ^a   Pompilii, Eva ^b   Pittalis, Maria Carla ^b  

^a Hospital S Maria della Scaletta   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ARTICLE; CELL CULTURE; CELL LINEAGE; CHORION VILLUS; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; CONFINED PLACENTAL MOSAICISM; CONTROLLED STUDY; COUNSELING; CYTOTROPHOBLAST; FETUS; FIRST TRIMESTER PREGNANCY; FOLLOW UP; HUMAN; INCIDENCE; KARYOTYPE; MAJOR CLINICAL STUDY; MARKER CHROMOSOME; MESENCHYME; MESENCHYME CELL; POLYPLOIDY; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SEX CHROMOSOME ABERRATION; TRISOMY; TRUE FETAL MOSAICISM; CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; FEMALE; MOSAICISM; RETROSPECTIVE STUDY;

CHORIONIC VILLI SAMPLING; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; MOSAICISM; POLYPLOIDY; PREGNANCY; PREGNANCY TRIMESTER, FIRST; RETROSPECTIVE STUDIES; RISK ASSESSMENT; SEX CHROMOSOME ABERRATIONS; TRISOMY;

EID: 84905368547     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4358     Document Type: Article

References (24)

1. Ledbetter DH, Zachary JM, Simpson JL, et al. Cytogenetic results from the U.S. collaborative study on CVS. Prenat Diagn 1992;12:317-45.
2. Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis. Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of U.K. data. Prenat Diagn 1994;14:363-79.
3. Pittalis MC, Dalprà L, Torricelli F, et al. The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods. Prenat Diagn 1994;14:267-78.
4. Hahnemann JM, Vejerslev LO. Accuracy of cytogenetic findings on chorionic villus sampling (CVS)-diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC* 1986-1992. Prenat Diagn 1997;17:801-20.
5. Grati FR, Grimi B, Frascoli G, et al. Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. Eur J Hum Genet 2006;14:282-8.
6. Kalousek DK, Vekemans M. Confined placental mosaicism. J Med Genet 1996;33:529-33.
7. Lestou VS, Kalousek DK. Confined placental mosaicism and intrauterine fetal growth. Arch Dis Child Fetal Neonatal Ed 1998;79:F223-F226.
8. Kalousek DK. Pathogenesis of chromosomal mosaicism and its effect on early human development. Am J Med Genet 2000;91:39-45.
9. Robinson WP, Barret IJ, Bernard L, et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 1997;60:917-27.
10. Stetten G, Escallon CS, South ST, et al. Reevaluating confined placental mosaicism. Am J Med Genet 2004;131A:232-9.
11. Van Opstal D, van den Berg C, Deelen WH, et al. Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy. Prenat Diagn 1998;18:35-44.
12. European Collaborative Research on Mosaicism in CVS (EUCROMIC). Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD. Prenat Diagn 1999;19:29-35.
13. Linee Guida per la Diagnosi Citogenetica. 2013. Working Group in Cytogenetics SIGU. Available at: http://www.sigu.net/index.php?option=com_docman&task=doc_details&gid=1436&Itemid=78.
14. ISCN. 2013. An international system for human cytogenetic nomenclature. Shaffer LG, McGowan J, Schmid M (Eds); Basel: Karger S, 2013.
15. Hahnemann JM, Vejerslev LO. European collaborative research on mosaicism in CVS (EUCROMIC)-fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am J Med Genet 1997;70:179-87.
16. Griffin DK, Millie EA, Redline RW, et al. Cytogenetic analysis of spontaneous abortions: comparison of techniques and assessment of the incidence of confined placental mosaicism. Am J Med Genet 1997;72:297-301.
17. Van den Berg C, Van Opstal D, Polak-Knook J, Galjaard RJ. (Potential) false-negative diagnoses in chorionic villi and a review of the literature. Prenat Diagn 2006;26:401-8.
18. Sikkema-Raddatz B, Bouman K, Verschuuren-Bemelmans CC, et al. Four years' cytogenetic experience with the culture of chorionic villi. Prenat Diagn 2000;20:950-5.
19. Toutain J, Epiney M, Begorre M, et al. First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies. Eur J Obst Gyn Repr Biol 2010;149:143-6.
20. Wolstenholme J Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidence, likely origins, and mechanisms for cell lineage compartimentalization. Prenat Diagn 1996;16:511-24.
21. Turchetti D, Pompilii E, Magrini E, et al. Persistence of a mosaic cell line in a fetus with mosaic trisomy 8. Am J Med Genet 2011;155:2791-4.
22. Smith K, Lowther G, Maher E, et al. The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study. Prenat Diagn 1999;19:817-26.
23. Pittalis MC, Mattarozzi A, Menozzi C, et al. Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangement. Am J Med Genet 2013;161:2559-63.
24. Toutain J, Labeau-Gaüzere C, Barnetche T, et al. Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between type 2 and 3. Prenat Diagn 2010;30:1155-64.