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Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
Shaffer, Lisa G; Dabell, Mindy P; Fisher, Allan J; Coppinger, Justine; Bandholz, Anne M; Ellison, Jay W; Ravnan, J Britt; Torchia, Beth S; Ballif, Blake C; Rosenfeld, Jill A.
Afiliação
  • Shaffer LG; Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA. lisa.shaffer@perkinelmer.com
Prenat Diagn ; 32(10): 976-85, 2012 Oct.
Article em En | MEDLINE | ID: mdl-22865506
OBJECTIVE: To demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience. METHODS: Prenatal samples received from 2004 to 2011 for a variety of indications (n = 5003) were tested using comparative genomic hybridization-based microarrays targeted to known chromosomal syndromes with later versions of the microarrays providing backbone coverage of the entire genome. RESULTS: The overall detection rate of clinically significant copy number alterations (CNAs) among unbiased, nondemise cases was 5.3%. Detection rates were 6.5% and 8.2% for cases referred with abnormal ultrasounds and fetal demise, respectively. The overall rate of findings with unclear clinical significance was 4.2% but would reduce to 0.39% if only de novo CNAs were considered. In cases with known chromosomal rearrangements in the fetus or parent, 41.1% showed CNAs related to the rearrangements, whereas 1.3% showed clinically significant CNAs unrelated to the karyotype. Finally, 71% of the clinically significant CNAs found by microarray were below the resolution of conventional karyotyping of fetal chromosomes. CONCLUSIONS: Microarray analysis has advantages over conventional cytogenetics, including the ability to more precisely characterize CNAs associated with abnormal karyotypes. Moreover, a significant proportion of cases studied by array will show a clinically significant CNA even with apparently normal karyotypes.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Hibridização Genômica Comparativa / Cariótipo Anormal Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2012 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Hibridização Genômica Comparativa / Cariótipo Anormal Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2012 Tipo de documento: Article