Prenatal BACs-on-BeadsTM: The prospective experience of five prenatal diagnosis laboratories

Prenatal Diagnosis

Volumn 32, Issue 4, 2012, Pages 329-335

  Vialard, François ^a,b   Simoni, Giuseppe ^c   Gomes, Denise Molina ^a,b   Abourra, Azzedine ^d   Toffol, Simona De ^c   Bru, Fabrice ^a   Romero, Maria Carmen Martinez ^e   Nitsch, Lucio ^f   Bouhanna, Philippe ^a   Marcato, Livia ^c   Popowski, Thomas ^a   Grimi, Beatrice ^c   Martínez Conejero, Jose Antonio ^e   Benzacken, B ^d,g,h   Genesio, Rita ^f   Grati, Francesca R ^c  

^a CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^b INRA Institut National de la Recherche Agronomique   (France)

^c TOMA Advanced Biomedical Assays SpA   (Italy)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e Iviomics SL ^*  (Spain)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g HÔPITAL JEAN VERDIER   (France)

^h UNIVERSITÉ PARIS 13   (France)

Author keywords

Detection rate; Di George syndrome; Microdeletion; Prenatal BACs on BeadsTM; Prenatal diagnosis

Indexed keywords

AMNION FLUID ANALYSIS; ANEUPLOIDY; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BACTERIAL ARTIFICIAL CHROMOSOME ON BEAD; CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FEMALE; HUMAN; KARYOTYPE 45,X; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX CHROMOSOME ABERRATION; TRISOMY; TRISOMY 13; TRISOMY 18; TRISOMY 21; TRISOMY 7;

ADULT; AMNIOCENTESIS; AMNIOTIC FLUID; ANEUPLOIDY; CHORIONIC VILLI SAMPLING; CHROMOSOME DISORDERS; CHROMOSOMES, ARTIFICIAL, BACTERIAL; DIAGNOSTIC ERRORS; FEASIBILITY STUDIES; FEMALE; FETAL BLOOD; GESTATIONAL AGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; PREGNANCY; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES;

EID: 84859147595     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2934     Document Type: Article

References (18)

1. Grati FR, Barlocco A, Grimi B, et al. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes. Am J Med Genet A 2010;152A:1434-42.
2. Hills A, Donaghue C, Waters J, et al. QF-PCR as a stand-alone test for prenatal samples: the first 2years' experience in the London region. Prenat Diagn 2010;30:509-17.
3. Caine A, Maltby AE, Parkin CA, et al. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet 2005;366:123-8.
4. 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 Hum Genet 2010;86:749-64.
5. Ogilvie CM, Yaron Y, Beaudet AL. Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping? Prenat Diagn 2009;29:11-14.
6. Friedman JM. High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 2009;29:20-8.
7. Gross SJ, Bajaj K, Garry D, et al. Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes. Prenat Diagn 2011;31:295-66.
8. ACOG. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 2007;110:1459-67.
9. ACOG. ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol 2009;114:1161-3.
10. Vermeesch JR, Fiegler H, de Leeuw N, et al. Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 2007;15:1105-14.
11. Vialard F, Simoni G, Aboura A, et al. Prenatal BACs-on-Beads: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis. Prenat Diagn 2011;31:500-8.
12. Shaffer LG, Coppinger J, Morton SA, et al. The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes. Prenat Diagn 2011;31:778-87.
13. Popowski T, Vialard F, Leroy B, et al. 2011. Williams-Beuren syndrome: the prenatal phenotype. Am J Obstet Gynecol 2011;205:e6-8.
14. Konialis C, Hagnefelt B, Sevastidou S, et al. Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis. Prenat Diagn 2011;31:571-7.
15. Portnoi MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet 2009;52:88-93.
16. Hogart A, Wu D, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis 2011;38:181-91.
17. Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011;43:838-46.
18. Tan TY, Gordon CT, Amor DJ, Farlie PG. Developmental perspectives on copy number abnormalities of the 22q11.2 region. Clin Genet 2010;78:201-18.