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 read with interest the paper by Novelli etal., concerning the use of chromosomal microarray analysis (CMA) in prenatal diagnosis. The authors recommended that it should be offered only after standard karyotyping, as a second-line test for selected groups of high-risk pregnancies. Recently, numerous independent prospective studies, involving the use of various strategies and validated with several different array platforms, have demonstrated the effectiveness and usefulness of CMA in clinical prenatal diagnosis. In a large-scale prospective study headed by our center, the average improvement in detection rate using CMA compared with traditional karyotyping was 0.9%. Other similar large-cohort prospective studies have been published, all reporting results concordant with our and previous findings. The combined experience from the prospective analysis of a cohort of over 10 000 prenatal samples (12 000 including the updated results from our study), with parallel processing for both CMA and conventional cytogenetic analysis, indicates that the use of CMA in prenatal diagnosis produces a substantial improvement, of ~1-3%, in the detection rate of pathogenic chromosomal abnormalities compared with conventional karyotyping. In our opinion, there is now no doubt that CMA markedly enhances the detection of fetal chromosomal aberrations, both when it is performed for any clinical indication and when it is performed because congenital malformations are noted on ultrasound investigation.