Array technology in prenatal diagnosis

Orsetta Zuffardi, Annalisa Vetro, Paul Brady, Joris Vermeesch

Research output: Contribution to journalArticle

Abstract

Array technology, here termed molecular karyotyping, is an attractive alternative to conventional karyotyping for prenatal diagnosis given the increase in resolution as well as faster report times. We review the benefits and limitations of this technique for the detection of pathogenic genomic imbalances, address the challenges raised in the interpretation of copy number variations, discuss practical considerations for the routine implementation of molecular karyotyping in prenatal diagnosis, and identify areas where more research is desired to enable large scale introduction of the technique(s).

Original languageEnglish
Pages (from-to)94-98
Number of pages5
JournalSeminars in Fetal and Neonatal Medicine
Volume16
Issue number2
DOIs
Publication statusPublished - Apr 2011

Fingerprint

Karyotyping
Prenatal Diagnosis
Technology
Research

Keywords

  • Array comparative genomic hybridization
  • Copy number variation
  • Cytogenomic array
  • Molecular karyotyping
  • Prenatal diagnosis
  • Unclassified variants

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Array technology in prenatal diagnosis. / Zuffardi, Orsetta; Vetro, Annalisa; Brady, Paul; Vermeesch, Joris.

In: Seminars in Fetal and Neonatal Medicine, Vol. 16, No. 2, 04.2011, p. 94-98.

Research output: Contribution to journalArticle

Zuffardi, O, Vetro, A, Brady, P & Vermeesch, J 2011, 'Array technology in prenatal diagnosis', Seminars in Fetal and Neonatal Medicine, vol. 16, no. 2, pp. 94-98. https://doi.org/10.1016/j.siny.2010.12.001
Zuffardi, Orsetta ; Vetro, Annalisa ; Brady, Paul ; Vermeesch, Joris. / Array technology in prenatal diagnosis. In: Seminars in Fetal and Neonatal Medicine. 2011 ; Vol. 16, No. 2. pp. 94-98.
@article{e4cd0142a7ea4bd5b174b9e5c4f3e99b,
title = "Array technology in prenatal diagnosis",
abstract = "Array technology, here termed molecular karyotyping, is an attractive alternative to conventional karyotyping for prenatal diagnosis given the increase in resolution as well as faster report times. We review the benefits and limitations of this technique for the detection of pathogenic genomic imbalances, address the challenges raised in the interpretation of copy number variations, discuss practical considerations for the routine implementation of molecular karyotyping in prenatal diagnosis, and identify areas where more research is desired to enable large scale introduction of the technique(s).",
keywords = "Array comparative genomic hybridization, Copy number variation, Cytogenomic array, Molecular karyotyping, Prenatal diagnosis, Unclassified variants",
author = "Orsetta Zuffardi and Annalisa Vetro and Paul Brady and Joris Vermeesch",
year = "2011",
month = "4",
doi = "10.1016/j.siny.2010.12.001",
language = "English",
volume = "16",
pages = "94--98",
journal = "Seminars in Fetal and Neonatal Medicine",
issn = "1744-165X",
publisher = "W.B. Saunders Ltd",
number = "2",

}

TY - JOUR

T1 - Array technology in prenatal diagnosis

AU - Zuffardi, Orsetta

AU - Vetro, Annalisa

AU - Brady, Paul

AU - Vermeesch, Joris

PY - 2011/4

Y1 - 2011/4

N2 - Array technology, here termed molecular karyotyping, is an attractive alternative to conventional karyotyping for prenatal diagnosis given the increase in resolution as well as faster report times. We review the benefits and limitations of this technique for the detection of pathogenic genomic imbalances, address the challenges raised in the interpretation of copy number variations, discuss practical considerations for the routine implementation of molecular karyotyping in prenatal diagnosis, and identify areas where more research is desired to enable large scale introduction of the technique(s).

AB - Array technology, here termed molecular karyotyping, is an attractive alternative to conventional karyotyping for prenatal diagnosis given the increase in resolution as well as faster report times. We review the benefits and limitations of this technique for the detection of pathogenic genomic imbalances, address the challenges raised in the interpretation of copy number variations, discuss practical considerations for the routine implementation of molecular karyotyping in prenatal diagnosis, and identify areas where more research is desired to enable large scale introduction of the technique(s).

KW - Array comparative genomic hybridization

KW - Copy number variation

KW - Cytogenomic array

KW - Molecular karyotyping

KW - Prenatal diagnosis

KW - Unclassified variants

UR - http://www.scopus.com/inward/record.url?scp=79951959735&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79951959735&partnerID=8YFLogxK

U2 - 10.1016/j.siny.2010.12.001

DO - 10.1016/j.siny.2010.12.001

M3 - Article

C2 - 21208835

AN - SCOPUS:79951959735

VL - 16

SP - 94

EP - 98

JO - Seminars in Fetal and Neonatal Medicine

JF - Seminars in Fetal and Neonatal Medicine

SN - 1744-165X

IS - 2

ER -