EP 3149202 A1 20170405 - METHOD OF PRENATAL DIAGNOSIS
Title (en)
METHOD OF PRENATAL DIAGNOSIS
Title (de)
VERFAHREN ZUR PRÄNATALEN DIAGNOSE
Title (fr)
PROCÉDÉ DE DIAGNOSTIC PRÉNATAL
Publication
Application
Priority
- IT TO20140414 A 20140526
- IB 2015053926 W 20150526
Abstract (en)
[origin: WO2015181718A1] Method of prenatal diagnosis comprising the steps of: acquiring (1) reads of fragments of genomic libraries obtained from circulating free total DNA in a sample of maternal plasma, the DNA representing a plurality of chromosomes; aligning (2) the reads with respect to a predetermined reference genome obtaining a first dataset (SAM); converting (4) the first dataset (SAM) into a second dataset (BAM) so as to allow sorting thereof according to chromosomal coordinates and successive duplicate removal, obtaining a third dataset containing all the reads aligned and devoid of duplicates; subdividing (6) at least one chromosome into windows of predetermined dimensions, so as to count the reads which have a "mapping validity" greater than or equal to a threshold value in each reading window, obtaining a total number of above-threshold reads (NW); normalizing, for each reading window, the total number of above-threshold reads (NW) with respect to the total number (Ntot) of reads of the fragment of genomic library obtaining a first normalized datum (NW,lib); normalizing (8), for each reading window, the first normalized datum (NW,lib) with respect to a systematic error due to the content of G and C bases, obtaining a second normalized datum (NW,lib,GC); calculating (10), for each chromosome, a median of all the second normalized data (NW,lib,GC) obtaining a final value (Nji); calculating (12) an aneuploidy parameter (Z) for at least one chromosome; determining the aneuploidy parameter (Z) of at least one chromosome so as to evaluate whether the sample of maternal plasma is aneuploid.
IPC 8 full level
C12Q 1/68 (2006.01); G16B 20/10 (2019.01); G16B 20/20 (2019.01); G16B 30/10 (2019.01); G16B 40/00 (2019.01)
CPC (source: EP US)
C12Q 1/6869 (2013.01 - EP); G16B 20/00 (2019.01 - EP); G16B 20/10 (2019.01 - EP US); G16B 20/20 (2019.01 - EP US); G16B 30/00 (2019.01 - EP); G16B 30/10 (2019.01 - EP US); C12Q 2537/159 (2013.01 - EP); C12Q 2537/16 (2013.01 - EP); C12Q 2537/165 (2013.01 - EP); G16B 40/00 (2019.01 - EP US)
Citation (search report)
See references of WO 2015181718A1
Designated contracting state (EPC)
AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
Designated extension state (EPC)
BA ME
DOCDB simple family (publication)
DOCDB simple family (application)
IB 2015053926 W 20150526; EP 15736606 A 20150526