title: Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
abstract: OBJECTIVE
  To evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain significance, and the ability to detect abnormalities not detected by karyotype, and vice versa.
  
  
  METHODS
  Women undergoing amniocentesis or chorionic villus sampling (CVS) for karyotype were offered aCGH analysis using a targeted microarray. Parental samples were obtained concurrently to exclude maternal cell contamination and determine if copy number variants (CNVs) were de novo, or inherited prior to issuing a report.
  
  
  RESULTS
  We analyzed 300 samples, most were amniotic fluid (82%) and CVS (17%). The most common indications were advanced maternal age (N=123) and abnormal ultrasound findings (N=84). We detected 58 CNVs (19.3%). Of these, 40 (13.3%) were interpreted as likely benign, 15 (5.0%) were of defined pathological significance, while 3 (1.0%) were of uncertain clinical significance. For seven (approximately 2.3% or 1/43), aCGH contributed important new information. For two of these (1% or approximately 1/150), the abnormality would not have been detected without aCGH analysis.
  
  
  CONCLUSIONS
  Although aCGH-detected benign inherited variants in 13.3% of cases, these did not present major counseling difficulties, and the procedure is an improved diagnostic tool for prenatal detection of chromosomal abnormalities.
authors.affiliation: Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Ignatia B
authors.initials: IB
authors.lastname: Van den Veyver
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: Chad A
authors.initials: CA
authors.lastname: Shaw
authors.forename: Amber N
authors.initials: AN
authors.lastname: Pursley
authors.forename: Sung-Hae L
authors.initials: SH
authors.lastname: Kang
authors.forename: Marcia J
authors.initials: MJ
authors.lastname: Simovich
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Ward
authors.forename: Sandra
authors.initials: S
authors.lastname: Darilek
authors.forename: Anthony
authors.initials: A
authors.lastname: Johnson
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Neill
authors.forename: Weimin
authors.initials: W
authors.lastname: Bi
authors.forename: Lisa D
authors.initials: LD
authors.lastname: White
authors.forename: Christine M
authors.initials: CM
authors.lastname: Eng
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Sau Wai
authors.initials: SW
authors.lastname: Cheung
authors.forename: Arthur L
authors.initials: AL
authors.lastname: Beaudet
mesh_terms: D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D055028:Comparative Genomic Hybridization; D005260:Female; D018628:Gene Dosage / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D046228:Microarray Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*