FIELD: medicine.
SUBSTANCE: present group of inventions relates to medicine. Disclosed is a method for non-invasive prenatal diagnosis of foetal aneuploidy, including extracellular DNA from a blood sample of a pregnant woman, preparation of genomic libraries and enrichment of genomic regions, sequencing, mapping received readings in reference genome, adjustment value obtained coverage for each genome region to total coverage of genome comparison corrected value coatings with coatings values obtained for training sample and detect foetal aneuploidies. Also disclosed is a method for producing regions of genome characterised by openness chromatin between placenta and mother's blood cells, characterised by at least 20 %.
EFFECT: proposed group of inventions provides a simpler and more economical method of prenatal diagnosis of foetal aneuploidies during early pregnancy.
8 cl, 2 dwg, 6 ex
| Title | Year | Author | Number |
|---|---|---|---|
| METHOD FOR NONINVASIVE PRENATAL DIAGNOSTICS OF FETAL ANEUPLOIDY | 2015 |
|
RU2627673C2 |
| 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 NON-INVASIVE PRENATAL SCREENING OF FETAL ANEUPLOIDY | 2019 |
|
RU2712175C1 |
| METHOD OF DETERMINING THE SOURCE OF ANEUPLOID CELLS ON THE BLOOD OF A PREGNANT WOMAN | 2016 |
|
RU2674700C2 |
| NONINVASIVE DIAGNOSTIC DNA TEST FOR ANEUPLOIDY DETECTION | 2012 |
|
RU2638456C2 |
| METHOD FOR DETERMINING FOETAL KARYOTYPE OF PREGNANT WOMAN BASED ON SEQUENCING HYBRID READINGS CONSISTING OF SHORT FRAGMENTS OF EXTRACELLULAR DNA | 2019 |
|
RU2717023C1 |
| HIGHLY MULTIPLEX PCR METHODS AND COMPOSITIONS | 2012 |
|
RU2650790C2 |
| METHOD FOR NON-INVASIVE PRENATAL DIAGNOSTICS OF FETAL CHROMOSOMAL ANEUPLOIDY FROM MATERNAL BLOOD | 2016 |
|
RU2744604C2 |
