title: Clinical utility of chromosomal microarray analysis in prenatal diagnosis: report of first 6 months in clinical practice.
abstract: OBJECTIVE
  We studied the clinical utility of chromosomal microarray analysis (CMA) in prenatal diagnosis in a clinical setting in New York City.
  
  
  METHODS
  Our center began offering CMA to pregnant women undergoing invasive diagnostic procedures for an abnormal structural finding on ultrasound, maternal age of 35 years or older, or elevated risk on aneuploidy screening, beginning March 2012. Our first six months experience is reported.
  
  
  RESULTS
  Benign familial variants were the most common finding (16/22 fetuses). Variants of uncertain significance were frequent, especially when fathers were not available for testing (4/22 fetuses). Most patients undertook CMA as part of evaluation of an ultrasound anomaly (52%). One patient terminated a pregnancy based on an ultrasound finding in the setting of a benign familial variant on CMA, and a second terminated a pregnancy based on a copy number variant identified on CMA.
  
  
  CONCLUSIONS
  For CMA to be maximally useful in prenatal diagnosis, parental DNA samples as well as robust datasets to provide predictive phenotypic information are required. The most common reason for undertaking CMA was to evaluate an ultrasound anomaly, and benign familial variants were a common finding. Genetic services are required to provide pre- and post-test genetic counseling and help families interpret results.
authors.affiliation: Department of Obstetrics & Gynecology and Women's Health , Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY , USA .
authors.forename: Susan
authors.initials: S
authors.lastname: Klugman
authors.forename: Barrie
authors.initials: B
authors.lastname: Suskin
authors.forename: Brianna L
authors.initials: BL
authors.lastname: Spencer
authors.forename: Pe'er
authors.initials: P
authors.lastname: Dar
authors.forename: Komal
authors.initials: K
authors.lastname: Bajaj
authors.forename: Judith
authors.initials: J
authors.lastname: Powers
authors.forename: Julie
authors.initials: J
authors.lastname: Reichling
authors.forename: David
authors.initials: D
authors.lastname: Wasserman
authors.forename: Siobhan M
authors.initials: SM
authors.lastname: Dolan
authors.forename: Irwin R
authors.initials: IR
authors.lastname: Merkatz
mesh_terms: D002877:Chromosomes, Human; D005260:Female; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000706:statistics & numerical data*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data*
keywords: Amniocentesis; chromosomal microarray analysis; genetic counseling; prenatal diagnosis; variants of uncertain significance