Introducing the next generation sequencing in genomic amnio and villuos sampling. The so called "Next Generation Prenatal Diagnosis" (NGPD)

• Published in: Journal of prenatal medicine 2014-01, Vol.8 (1-2), p.1-10
• Main Authors: Giorlandino, Claudio, Mesoraca, Alvaro, Bizzoco, Domenico, Dello Russo, Claudio, Cima, Antonella, Di Giacomo, Gianluca, Cignini, Pietro, Padula, Francesco, Dugo, Nella, D'Emidio, Laura, Brizzi, Cristiana, Raffio, Raffaella, Milite, Vincenzo, Mangiafico, Lucia, Coco, Claudio, Carcioppolo, Ornella, Vigna, Roberto, Mastrandrea, Marialuisa, Mobili, Luisa
• Format: Article
• Language: English
• Subjects: Chromosomes; Deoxyribonucleic acid; DNA; Guarantees; Methods; Mutation; Ultrasonic imaging
• ISSN: 1971-3282; 1971-3290; 1971-3290
• DOI: 10.11138/jpm/2014.8.1.001

In the last 30 years, invasive prenatal diagnosis has predominantly involved research into chromosomal anomalies, in particular Down's Syndrome. In the last 10 years, parents have been requesting ever more information during pregnancy and there has been an increase in the number of cases with ultrasound markers concerning possible fetal complications of unknown origin. This has led to the introduction of prenatal diagnosis and increasingly detailed techniques such as CGH Array. To date, approximately 19,000 coding genes contained in the human exome have been identified. The recent introduction of Next Generation Sequencing has made it possible, in theory, to explore the entire exome and reveal every form of mutation. Therefore, it is possible, today, to open up a completely new diagnostic scenario which would have been considered impossible only a few years ago. However, if this development is not controlled, it could lead to a so-called genetic "deviation", ie a genetics that could have unforeseen repercussions on the life and dignity of the individual.