title: Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.
abstract: A precise guideline establishing chromosomal microarray analysis (CMA) applications and platforms in the prenatal setting does not exist. The controversial question is whether CMA technologies can or should soon replace standard karyotyping in prenatal diagnostic practice. A review of the recent literature and survey of the knowledge and experience of all members of the Italian Society of Human Genetics (SIGU) Committee were carried out in order to propose recommendations for the use of CMA in prenatal testing. The analysis of datasets reported in the medical literature showed a considerable 6.4% incidence of pathogenic copy number variations (CNVs) in the group of pregnancies with sonographically detected fetal abnormalities and normal karyotype. The reported CNVs are likely to have a relevant role in terms of nosology for the fetus and in the assessment of reproductive risk for the couple. Estimation of the frequency of copy number variations of uncertain significance (VOUS) varied depending on the different CMA platforms used, ranging from 0-4%, obtained using targeted arrays, to 9-12%, obtained using high-resolution whole genome single nucleotide polymorphism (SNP) arrays. CMA analysis can be considered a second-tier diagnostic test to be used after standard karyotyping in selected groups of pregnancies, namely those with single (apparently isolated) or multiple ultrasound fetal abnormalities, those with chromosomal rearrangements, even if apparently balanced, and those with supernumerary marker chromosomes.
authors.affiliation: Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy. a.novelli@css-mendel.it
authors.forename: A
authors.initials: A
authors.lastname: Novelli
authors.forename: F R
authors.initials: FR
authors.lastname: Grati
authors.forename: L
authors.initials: L
authors.lastname: Ballarati
authors.forename: L
authors.initials: L
authors.lastname: Bernardini
authors.forename: D
authors.initials: D
authors.lastname: Bizzoco
authors.forename: L
authors.initials: L
authors.lastname: Camurri
authors.forename: R
authors.initials: R
authors.lastname: Casalone
authors.forename: L
authors.initials: L
authors.lastname: Cardarelli
authors.forename: P
authors.initials: P
authors.lastname: Cavalli
authors.forename: R
authors.initials: R
authors.lastname: Ciccone
authors.forename: M
authors.initials: M
authors.lastname: Clementi
authors.forename: L
authors.initials: L
authors.lastname: Dalprà
authors.forename: M
authors.initials: M
authors.lastname: Gentile
authors.forename: G
authors.initials: G
authors.lastname: Gelli
authors.forename: P
authors.initials: P
authors.lastname: Grammatico
authors.forename: M
authors.initials: M
authors.lastname: Malacarne
authors.forename: A M
authors.initials: AM
authors.lastname: Nardone
authors.forename: V
authors.initials: V
authors.lastname: Pecile
authors.forename: G
authors.initials: G
authors.lastname: Simoni
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
authors.forename: D
authors.initials: D
authors.lastname: Giardino
mesh_terms: D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods* / Q000639:trends; D005260:Female; D006801:Humans; D007558:Italy; D046228:Microarray Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*