Per le informazioni genetiche di base relative a percentuali, incidenze, tecniche e casistiche si fa riferimento alle seguenti opere monografiche:

1) Jorde: Medical Genetics, 4th ed.;
2) Turnpenny: Emery’s Elements of Medical Genetics, 14th ed.;
3) Nussbaum: Thompson & Thompson Genetics in Medicine, 7th ed.;

 

Per lo specifico  relativo alla NGPD, a fianco dell’enorme  numero  di ricerche  scientifiche sulla Diagnosi Prenatale mediante citogenetica e a-CGH (metodiche oramai consolidate nella pratica clinica ed il cui gigantesco numero di studi impedisce qui di fare rifermenti sintetici) stanno  introducendosi  lavori di basilari anche sulla tecnica  NGS in Diagnosi Prenatale.

1)Exome sequencing improves genetic diagnosis of structural fetal abnomalities revealed by ultrasound  Carss J1, Hillman  SC, Parthiban  V, McMullan  DJ, Maher  ER, Kilby MD, Hurles ME. Hum Mol Genet. 2014 Feb 11
2) Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing Shan Dan1*., Fang Chen2., Kwong Wai Choy3., Fuman Jiang2, Jingrong Lin2, Zhaoling Xuan2, Wei
Wang2, Shengpei Chen2, Xuchao Li2, Hui Jiang2, Tak Yeung Leung3, Tze Kin Lau3, Yue Su1, Weiyuan, Zhang1, Xiuqing Zhang2
3)Exome Sequencing in Fetuses with Structural Malformations Fiona L. Mackie 1,2,*, Keren J. Carss 3, Sarah C. Hillman 1, Matthew E. Hurles 3 and Mark D. Kilby
4) Introducing the Next Generation Prenatal Diagnosis. Mesoraca A. ; Dello Russo C., Di Giacomo G.;  Cignini P. D’Emidio L.; Mobili L.; Mangiafico L.; Giorlandino C. J PrenatMed. 2014
5) [Human genome sequencing–next generation technology or will the routine sequencing of human genome be possible?]. Cas Lek Cesk. 2009;
6) Applications of next-generation whole exome sequencing. J Neurol. 2014 May 18
7) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet. 2014 May 2
8) Next generation sequencing in clinical medicine: Challenges and lessons for pathology and biomedical informatics. J Pathol Inform. 2012;3:40
9) Exome sequencing generates high quality data in non-target regions. BMC Genomics. 2012 May 20
10) Mark J. P. Chaisson, John Huddleston, Megan Y. Dennis, Peter H. Sudmant, Maika Malig, Fereydoun Hormozdiari, Francesca Antonacci, Urvashi Surti, Richard Sandstrom, Matthew Boitano, Jane M. Landolin, John A. Stamatoyannopoulos, Michael W. Hunkapiller, Jonas Korlach, Evan E. Eichler