1 Novel use of Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases Running title: Noninvasive detection of fetal allelic variants. Silvia Galbiati 1 , Angela Brisci 1 , Faustina Lalatta 2 , Manuela Seia 3 , G. Mike Makrigiorgos 4 , Maurizio Ferrari 1,5,6§ , Laura Cremonesi 1§* . 1 San Raffaele Scientific Institute, Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics and Bioinformatics, Milan, Italy. 2 UO Dipartimentale di Genetica Medica and 3 Laboratorio di Genetica Medica, Fondazione IRCCS Ca’ Granda Ospedale Maggiore, Policlinico, Milan, Italy. 4 Dana-Farber/Brigham and Women’s Cancer Center, Brigham and Women’s Hospital, Radiation Therapy, Boston, MA, USA. 5 Università Vita-Salute San Raffaele, Milan, Italy. 6 Diagnostica e Ricerca San Raffaele SpA, Milan, Italy. § These authors equally contributed to the work *Author to whom correspondence should be sent: Dr. Laura Cremonesi, Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. Tel. +39 02 26434779, Fax +39 02 26434351, e-mail: cremonesi.laura@hsr.it Keywords: fetal DNA in maternal plasma, noninvasive prenatal diagnosis, full-COLD PCR, genetic diseases. Clinical Chemistry C o n f i d e n t i a l