Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?

Evangelia Karampetsou; Deborah Morrogh; Lyn Chitty

doi:10.3390/jcm3020663

Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?

J Clin Med. 2014 Jun 20;3(2):663-78. doi: 10.3390/jcm3020663.

Authors

Evangelia Karampetsou¹, Deborah Morrogh², Lyn Chitty^{3

4

5}

Affiliations

¹ NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, 37 Queen Square, London WC1N 3BH, UK. evangelia.karampetsou@gosh.nhs.uk.
² NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, 37 Queen Square, London WC1N 3BH, UK. deborah.morrogh@gosh.nhs.uk.
³ UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. l.chitty@ucl.ac.uk.
⁴ University College Hospital NHS Foundation Trust, London NW1 2PG, UK. l.chitty@ucl.ac.uk.
⁵ Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. l.chitty@ucl.ac.uk.

Abstract

The advantage of microarray (array) over conventional karyotype for the diagnosis of fetal pathogenic chromosomal anomalies has prompted the use of microarrays in prenatal diagnostics. In this review we compare the performance of different array platforms (BAC, oligonucleotide CGH, SNP) and designs (targeted, whole genome, whole genome, and targeted, custom) and discuss their advantages and disadvantages in relation to prenatal testing. We also discuss the factors to consider when implementing a microarray testing service for the diagnosis of fetal chromosomal aberrations.

Keywords: BAC; SNP; implementation; prenatal microarray.

Publication types

Review