Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
OBJECTIVE
This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies.


METHODS
Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome analysis. Array-CGH was performed with DNA directly from amniotic fluid cells with whole genome amplification, on chorionic villus samples with amplification as necessary, and on cultured cells without amplification.


RESULTS
Ninety-eight pregnancies (56 amniotic fluid and 42 CVS specimens) were studied with complete concordance between karyotype and array results, including 5 positive cases with chromosomal abnormalities. There was complete concordance of array results for direct and cultured cell analysis in 57 cases tested by both methods. In 12 cases, the array detected copy number variation requiring testing of parental samples for optimal interpretation. Array-CGH results were available in an average of 6 and 16 days for direct and cultured cells, respectively. Patient acceptance of array-CGH testing was 74%.


CONCLUSIONS
This study demonstrates the feasibility of using array-CGH for prenatal diagnosis, including reliance on direct analysis without culturing cells. Use of array-CGH should increase the detection of abnormalities relative to the risk, and is an option for an enhanced level of screening for chromosomal abnormalities in high risk pregnancies.
Sahoo
Trilochan
T
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Cheung
Sau Wai
SW
Ward
Patricia
P
Darilek
Sandra
S
Patel
Ankita
A
del Gaudio
Daniela
D
Kang
Sung Hae L
SH
Lalani
Seema R
SR
Li
Jiangzhen
J
McAdoo
Sallie
S
Burke
Audrey
A
Shaw
Chad A
CA
Stankiewicz
Pawel
P
Chinault
A Craig
AC
Van den Veyver
Ignatia B
IB
Roa
Benjamin B
BB
Beaudet
Arthur L
AL
Eng
Christine M
CM
D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000379:methods; D002893:Chromosomes, Human, Pair 3; D003657:Decision Making; D005260:Female; D018628:Gene Dosage; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D009693:Nucleic Acid Hybridization / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*