Re: Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.

摘要

We have read the recommendations proposed by the Italian Society of Human Genetics (SIGU) Committee for the use of chromosomal array (CMA) in prenatal testing. The SIGU Committee recommends that CMA in prenatal testing should never be used as a substitute for conventional karyotyping. Its application is strictly for specific diagnostic purposes in selected pregnancies, not for general prenatal screening. The reason for this is mainly concerns regarding: (1) additional parental anxiety resulting from the detection of variations of uncertain significance (VOUS); (2) the low rate of detection of known, disability-causing pathogenic copy number variations (CNV) by CMA in all pregnant women (0.16-0.3% as quoted in the SIGU recommendation); (3) the impossibility to detect balanced rearrangements with CMA; and (4) the inability to detect polyploidy and low-rate mosaicism.