title: Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
abstract: 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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Trilochan
authors.initials: T
authors.lastname: Sahoo
authors.forename: Sau Wai
authors.initials: SW
authors.lastname: Cheung
authors.forename: Patricia
authors.initials: P
authors.lastname: Ward
authors.forename: Sandra
authors.initials: S
authors.lastname: Darilek
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: Daniela
authors.initials: D
authors.lastname: del Gaudio
authors.forename: Sung Hae L
authors.initials: SH
authors.lastname: Kang
authors.forename: Seema R
authors.initials: SR
authors.lastname: Lalani
authors.forename: Jiangzhen
authors.initials: J
authors.lastname: Li
authors.forename: Sallie
authors.initials: S
authors.lastname: McAdoo
authors.forename: Audrey
authors.initials: A
authors.lastname: Burke
authors.forename: Chad A
authors.initials: CA
authors.lastname: Shaw
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
authors.forename: A Craig
authors.initials: AC
authors.lastname: Chinault
authors.forename: Ignatia B
authors.initials: IB
authors.lastname: Van den Veyver
authors.forename: Benjamin B
authors.initials: BB
authors.lastname: Roa
authors.forename: Arthur L
authors.initials: AL
authors.lastname: Beaudet
authors.forename: Christine M
authors.initials: CM
authors.lastname: Eng
mesh_terms: 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*