TY - JOUR
T1 - Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
AU - Srebniak, M
AU - Boter, Marjan
AU - Oudesluijs, Grietje
AU - Joosten, Marieke
AU - Govaerts, L
AU - Opstal, D
AU - Galjaard, Robert-Jan
PY - 2011
Y1 - 2011
N2 - 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. European Journal of Human Genetics (2011) 19, 1230-1237; doi: 10.1038/ejhg.2011.119; published online 22 June 2011
AB - 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. European Journal of Human Genetics (2011) 19, 1230-1237; doi: 10.1038/ejhg.2011.119; published online 22 June 2011
U2 - 10.1038/ejhg.2011.119
DO - 10.1038/ejhg.2011.119
M3 - Article
C2 - 21694736
SN - 1018-4813
VL - 19
SP - 1230
EP - 1237
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 12
ER -