Confined placental mosaicism: Implications for fetal chromosomal analysis using microarray comparative genomic hybridization

Prenatal Diagnosis

Volumn 34, Issue 1, 2014, Pages 98-101

  Karampetsou, Evangelia ^a   Morrogh, Deborah ^a   Ballard, Terry ^b   Waters, Jonathan J ^a   Lench, Nicholas ^a   Chitty, Lyn S ^a,c,d  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b TDL Genetics   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CELL LINEAGE; CHORION VILLUS; CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONFINED PLACENTAL MOSAICISM; COPY NUMBER VARIATION; CYTOTROPHOBLAST; DNA EXTRACTION; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HUMAN; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PLACENTA DISORDER; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; X CHROMOSOME;

CHORIONIC VILLI SAMPLING; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; FEMALE; FETUS; GENE DELETION; GESTATIONAL AGE; HUMANS; MALE; MICROARRAY ANALYSIS; MOSAICISM; PLACENTA; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84891557633     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4255     Document Type: Article

References (10)

1. Shaffer LG, Dabell MP, Fisher AJ, et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn 2012;32:1-10.
2. Wapner RJ, Lese Martin C, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175-84.
3. 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.
4. Holgado E, Holgado B, Liddle S, et al. A novel method for extracting DNA from chorionic villus samples for use in CVS-PCR, which ensures complete villus dissociation. Prenat Diagn 2009;29:113-9.
5. Levett LJ, Liddle S, Meredith R. A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol 2001;17(2):115-8.
6. Hernandez-Martin A, Gonzalez-Sarmiento R, De Unamuno P. X-linked ichthyosis: an update. Br J Dermatol 1999;141:617-27.
7. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Med Genet 2010;86:749-64.
8. Mann K, Kabba M, Donaghue C, et al. Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing. Prenat Diagn 2007;27:285-9.
9. Waters JJ, Mann K, Grimsley L, et al. Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS. Prenat Diagn 2007;27:332-9.
10. Yatsenko SA, Davis S, Hendrix NW, et al. Application of chromosomal microarray in the evaluation of abnormal prenatal findings. Clin Genet 2013;84;47-54.