title: Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.
abstract: OBJECTIVE
  The present study aims to investigate the presence of common submicroscopic chromosomal rearrangements in fetuses with ultrasound abnormalities or positive screening in the first trimester and normal karyotype. We used the multiplex ligation-dependent probe amplification (MLPA) technique with subtelomeric (SALSA P036B) and microdeletion syndrome (SALSA P064B/P096) probe mixes as a screening method to measure copy number changes on the tested probes in chorionic villus sampling. MLPA with P036B and P064/P096 probe mixes was performed on 49 chorionic villi DNA samples obtained between the 11th and 13th week of gestation.
  
  
  RESULTS
  The MLPA analyses did not detect any diminished or increased intensity for all the tested probes in the samples.
  
  
  CONCLUSIONS
  Our results suggest that the common submicroscopic "genomic disorders" (microdeletion and microduplication syndromes) would not be frequently detected in the first trimester anomalies screening.
authors.affiliation: Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avenida de Campanar 21, 46009 Valencia, Spain. rosello_mpi@gva.es
authors.forename: Mónica
authors.initials: M
authors.lastname: Roselló
authors.forename: Irene
authors.initials: I
authors.lastname: Ferrer-Bolufer
authors.forename: Sandra
authors.initials: S
authors.lastname: Monfort
authors.forename: Silvestre
authors.initials: S
authors.lastname: Oltra
authors.forename: Ramiro
authors.initials: R
authors.lastname: Quiroga
authors.forename: Francisco
authors.initials: F
authors.lastname: Martínez
authors.forename: Marisa
authors.initials: M
authors.lastname: Gonzalvo
authors.forename: Amparo
authors.initials: A
authors.lastname: Benac
authors.forename: Alfredo
authors.initials: A
authors.lastname: Perales
authors.forename: Carmen
authors.initials: C
authors.lastname: Orellana
mesh_terms: D002824:Chorionic Villi / Q000378:metabolism; D015193:Chorionic Villi Sampling / Q000379:methods*; D003582:Cytogenetics; D005260:Female; D017353:Gene Deletion; D015321:Gene Rearrangement; D006801:Humans; D007621:Karyotyping; D015336:Molecular Probe Techniques; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012306:Risk; D013577:Syndrome; D016615:Telomere / Q000648:ultrastructure*; D016216:Ultrasonography, Prenatal / Q000379:methods*