Roselló Mónica, Ferrer-Bolufer Irene, Monfort Sandra, Oltra Silvestre, Quiroga Ramiro, Martínez Francisco, Gonzalvo Marisa, Benac Amparo, Perales Alfredo, Orellana Carmen
Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avenida de Campanar 21, 46009 Valencia, Spain.
Eur J Med Genet. 2010 Mar-Apr;53(2):76-9. doi: 10.1016/j.ejmg.2009.12.003. Epub 2009 Dec 29.
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.
The MLPA analyses did not detect any diminished or increased intensity for all the tested probes in the samples.
Our results suggest that the common submicroscopic "genomic disorders" (microdeletion and microduplication syndromes) would not be frequently detected in the first trimester anomalies screening.
本研究旨在调查孕早期超声检查异常或筛查呈阳性且核型正常的胎儿中常见亚显微染色体重排的存在情况。我们使用多重连接依赖探针扩增（MLPA）技术，采用端粒（SALSA P036B）和微缺失综合征（SALSA P064B/P096）探针混合物作为筛查方法，来检测绒毛取样中被测探针的拷贝数变化。对妊娠第11至13周期间获取的49份绒毛DNA样本进行了使用P036B和P064/P096探针混合物的MLPA检测。
MLPA分析未检测到样本中所有被测探针的强度有任何降低或增加。
我们的结果表明，在孕早期异常筛查中不太可能频繁检测到常见的亚显微“基因组疾病”（微缺失和微重复综合征）。
