Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-12

AUTHORS

Malgorzata Srebniak, Marjan Boter, Grétel Oudesluijs, Marieke Joosten, Lutgarde Govaerts, Diane Van Opstal, Robert-Jan H Galjaard

ABSTRACT

We report on the validation and implementation of the HumanCytoSNP-12 array (Illumina) (HCS) in prenatal diagnosis. In total, 64 samples were used to validate the Illumina platform (20 with a known (sub) microscopic chromosome abnormality, 5 with known maternal cell contamination (MCC) and 39 normal control samples). There were no false-positive or false-negative results. In addition to the diagnostic possibilities of arrayCGH, the HCS allows detection of regions of homozygosity (ROH), triploidy and helps recognising MCC. Moreover, in two cases of MCC, a deletion was correctly detected. Furthermore we found out that only about 50 ng of DNA is required, which allows a reporting time of only 3 days. We also present a prospective pilot study of 61 fetuses with ultrasound abnormalities and a normal karyotype tested with HCS. In 4 out of 61 (6.5%) fetuses, a clinically relevant abnormality was detected. We designed and present pre-test genetic counselling information on categories of possible test outcomes. On the basis of this information, about 90% of the parents chose to be informed about adverse health outcomes of their future child at infancy and childhood, and 55% also about outcomes at an adult stage. The latter issue regarding the right of the future child itself to decide whether or not to know this information needs to be addressed. More... »

PAGES

1230

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2011.119

DOI

http://dx.doi.org/10.1038/ejhg.2011.119

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PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21694736


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