Microarray-Based Prenatal Diagnosis in Developing Countries

Abstract

Detection of chromosomal alterations in prenatal diagnosis requires speed and precision, imposing the development of high-throughput screening methods. Thus the array CGH technology, used to diagnose genomic rearrangements in children with multiple congenital anomalies, idiopathic mental retardation and developmental delay, caught the attention of specialists worldwide who are now trying to implement it in routine prenatal practice in order to obtain rapidly useful information for a more accurate genetic counseling. Array comparative genomic hybridisation (Array CGH) has the capacity to detect genomic rearrangements at a higher resolution than other methods used in prenatal testing, like standard G banding, multiplex ligation dependent probe amplification (MLPA) or fluorescent in-situ hybridization (FISH), being able to detect chromosomal imbalances smaller than 3 Mb. Despite all these evidences that prove its utility in prenatal diagnosis, this method is not used worldwide either because of lack of experienced specialists in interpreting array results or because, especially in developing countries, the national health insurance systems does not settle the high cost of this analysis and patients cannot afford it. This paper is a summary of recent progresses made using the array CGH technology in prenatal testing to detect if genomic imbalances are involved in the development of congenital malformations. Our aim is to reveal the importance of using advanced technologies like array CGH in routine prenatal practice, and thus to contribute to its implementation in developing countries like ours.