FIELD: biotechnology.
SUBSTANCE: invention relates to biotechnology. Method and system for determining whether a genomic abnormality exists are described. Wherein the genomic abnormality represents aneuploidy. Method involves the steps of separating fetal nucleated red blood cells from a sample obtained from a pregnant woman, sequencing at least a part of the genome of the nucleated red blood cells, so as to obtain a sequencing result, and determining whether the genomic abnormality exists in the nucleated red blood cells based on the sequencing result.
EFFECT: disclosed group of inventions can be used in medicine.
20 cl, 11 dwg, 2 tbl
| Title | Year | Author | Number |
|---|---|---|---|
| NON-INVASIVE DETECTION OF GENETIC FOETAL ABNORMALITY | 2011 |
|
RU2589681C2 |
| METHOD AND SYSTEM FOR DETERMINING NUCLEOTIDE SEQUENCE IN GIVEN REGION OF FOETAL GENOME | 2012 |
|
RU2597981C2 |
| NON-INVASIVE PRENATAL DIAGNOSIS OF FOETAL ANEUPLOIDY | 2014 |
|
RU2583830C2 |
| METHOD FOR NON-INVASIVE PRENATAL SCREENING OF FETAL ANEUPLOIDY | 2019 |
|
RU2712175C1 |
| METHOD FOR IDENTIFYING FETAL ANEUPLOIDY IN A BLOOD SAMPLE OF THE PREGNANT WOMAN | 2021 |
|
RU2777072C1 |
| DIAGNOSTIC TECHNIQUE FOR ANEUPLOIDY BY SEQUENCE ANALYSIS | 2012 |
|
RU2529784C2 |
| NON-INVASIVE DIAGNOSTIC TECHNIQUE FOR FOETAL ANEUPLOIDY BY SEQUENCE ANALYSIS | 2014 |
|
RU2543155C1 |
| METHOD FOR NONINVASIVE PRENATAL DIAGNOSTICS OF FETAL ANEUPLOIDY | 2015 |
|
RU2627673C2 |
| METHOD AND APPARATUS FOR DETERMINING FRACTION OF EXTRACELLULAR NUCLEIC ACIDS IN BIOLOGICAL SAMPLE AND USE THEREOF | 2015 |
|
RU2699728C2 |
| METHOD FOR DETERMINING FOETAL KARYOTYPE OF PREGNANT WOMAN BASED ON SEQUENCING HYBRID READINGS CONSISTING OF SHORT FRAGMENTS OF EXTRACELLULAR DNA | 2019 |
|
RU2717023C1 |
