TY - JOUR
T1 - Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
AU - Srebniak, Malgorzata I.
AU - Boter, Marjan
AU - Oudesluijs, Gretel O.
AU - Cohen-Overbeek, Titia
AU - Govaerts, Lutgarde C.P.
AU - Diderich, Karin E.M.
AU - Oegema, Renske
AU - Knapen, Maarten F.C.M.
AU - Van De Laar, Ingrid M.B.H.
AU - Joosten, Marieke
AU - Van Opstal, Diane
AU - Galjaard, Robert Jan H.
PY - 2012/3/14
Y1 - 2012/3/14
N2 - Background: We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results. From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS) (http://www.Illumina.com) analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection). Pre-test genetic counselling was offered in all cases. In 24/207 (11,6%) foetuses a clinically relevant genetic abnormality was detected. Only 8/24 abnormalities would have been detected if only routine karyotyping was performed. Submicroscopic abnormalities were found in 16/207 (7,7%) cases. The array results were achieved within 1-2 weeks after amniocentesis. Conclusions: Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (∼0.15 Mb) in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (∼ > 5 Mb). Since karyotyping would have missed 66% (16/24) of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound abnormalities.
AB - Background: We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results. From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS) (http://www.Illumina.com) analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection). Pre-test genetic counselling was offered in all cases. In 24/207 (11,6%) foetuses a clinically relevant genetic abnormality was detected. Only 8/24 abnormalities would have been detected if only routine karyotyping was performed. Submicroscopic abnormalities were found in 16/207 (7,7%) cases. The array results were achieved within 1-2 weeks after amniocentesis. Conclusions: Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (∼0.15 Mb) in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (∼ > 5 Mb). Since karyotyping would have missed 66% (16/24) of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound abnormalities.
KW - Foetal abnormalities
KW - Genomic SNP array
KW - Prenatal diagnosis
KW - Submicroscopic aberrations
UR - http://www.scopus.com/inward/record.url?scp=84857986192&partnerID=8YFLogxK
U2 - 10.1186/1755-8166-5-14
DO - 10.1186/1755-8166-5-14
M3 - Article
AN - SCOPUS:84857986192
SN - 1755-8166
VL - 5
JO - Molecular Cytogenetics
JF - Molecular Cytogenetics
IS - 1
M1 - 14
ER -