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Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies
Author(s) -
Opstal Diane,
Vries Femke,
Govaerts Lutgarde,
Boter Marjan,
Lont Debora,
Veen Stefanie,
Joosten Marieke,
Diderich Karin,
Galjaard RobertJan,
Srebniak Malgorzata I.
Publication year - 2015
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22742
Subject(s) - snp array , snp , biology , aneuploidy , abnormality , prenatal diagnosis , karyotype , single nucleotide polymorphism , genetic counseling , chromosome , genetics , pregnancy , medicine , genotype , fetus , psychiatry , gene
ABSTRACT We present the nature of pathogenic SNP array findings in pregnancies without ultrasound ( US ) abnormalities and show the additional diagnostic value of SNP array as compared with rapid aneuploidy detection and karyotyping. 1,330 prenatal samples were investigated with a 0.5‐Mb SNP array after the exclusion of the most common aneuploidies. In 2.7% (36/1,330) of the cases, pathogenic chromosome aberrations were found; a microscopically detectable abnormality in 0.7% and a submicroscopic aberration in 2%. Our results show that in addition to the age‐ or screening‐related aneuploidy risk, in pregnancies without US abnormalities, there is a risk of 1:148 (9/1,330) for a (sub)microscopic abnormality associated with an early‐onset often severe disease, 1:222 (6/1,330) for a submicroscopic aberration causing an early‐onset disease, 1:74 (18/1,330) for carrying a susceptibility locus for a neurodevelopmental disorder, and 1:443 (3/1,330) for a late‐onset disorder (hereditary neuropathy with liability to pressure palsies in all three cases). These risk figures are important for adequate pretest counseling so that prospective parents can make informed individualized choices between targeted prenatal testing and broad testing with SNP array. Based on our results, we believe if invasive testing is performed, SNP array should be the preferred cytogenetic technique irrespective of the indication.