Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.
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.
Roselló
Mónica
M
Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avenida de Campanar 21, 46009 Valencia, Spain. rosello_mpi@gva.es
Ferrer-Bolufer
Irene
I
Monfort
Sandra
S
Oltra
Silvestre
S
Quiroga
Ramiro
R
Martínez
Francisco
F
Gonzalvo
Marisa
M
Benac
Amparo
A
Perales
Alfredo
A
Orellana
Carmen
C
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*