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Titolo:
Aneuploidy screening in direct chorionic villus samples by fluorescence insitu hybridisation: the use of commercial probes in a clinical setting
Autore:
Quilter, CR; Holman, S; Al-Hammadi, RMYA; Theodorides, D; Hastings, RJ; Delhanty, JDA;
Indirizzi:
Univ Coll London, Clin Cytogenet, London, England Univ Coll London London England London, Clin Cytogenet, London, England
Titolo Testata:
BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
fascicolo: 2, volume: 108, anno: 2001,
pagine: 215 - 218
SICI:
1470-0328(200102)108:2<215:ASIDCV>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
HYBRIDIZATION; CELLS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
5
Recensione:
Indirizzi per estratti:
Indirizzo: Delhanty, JDA Univ Coll London, Dept Obstet & Gynaecol, 86-96 Chenies Mews, London WC1E 6HX, England Univ Coll London 86-96 Chenies Mews London England WC1E 6HX
Citazione:
C.R. Quilter et al., "Aneuploidy screening in direct chorionic villus samples by fluorescence insitu hybridisation: the use of commercial probes in a clinical setting", BR J OBST G, 108(2), 2001, pp. 215-218

Abstract

The results of screening for the common aneuploidies involving chromosomes13, 18, 21, X and Y by florescent in-situ hybridisation (FISH) in direct preparations from 100 chorionic villus samples from pregnancies between 10 and 20 weeks' gestation are reported. Samples prepared using routine methodsand analysed with commercially available probes, accurately detected 12 cases of fetal aneuploidy, all referred because of developmental abnormality. Three of the four cases where chromosome abnormality was detected in cultured villi but not by the direct fluorescence in situ hybridisation (FISH) assay, were due to confined placental mosaicism. No chromosomal anomalies were found in the 20 low risk cases where the referral reason was a familial single gene disorder, We conclude that the FISH assay with commercial probes may act as an accurate and less labour intensive alternative to direct chromosome analysis of chorionic villus samples. In cytogenetically low risk cases its use can obtain a result within the time needed for DNA analysis and avoid the need to set up cultures.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 03:03:14