Publikovaná literatúra

Klinické validačné a prípadové štúdie

1. Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies

2. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.

3. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11, 105 pregnancies with mixed risk factors

4. Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing

5. Noninvasive Fetal Trisomy (NIFTY™) test-an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

6. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing- large scale validity study

7. Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

8. Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy

9. Non-invasive prenatal testing of trisomies 21 and 18

10. Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

11. False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism

12. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

13. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11, 105 pregnancies with mixed risk factors

14. False-negative trisomy 18 non-invasive prenatal test result due to 48, XXX, +18 placental mosaicism

15. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.

Štúdie s dvojičkami

1. Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing

Delečné syndrómy

1. A method for noninvasive detection of fetal large deletions & duplications by low coverage massively parallel sequencing

NIPT a monogénne ochorenia

1. Noninvasive Prenatal Detection for Pathogenic CNVs- The Application in a-Thalassemia

2. Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with Maple Syrup Urine Disease

3. Haplotype-assisted accurate noninvasive fetal whole genome recovery through maternal plasma sequencing

Aneuploidie pohlavných chromozómov

1. Non-invasive prenatal screening of fetal sex chromosomal abnormalities perspective of pregnant women

2. Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X

NIPT and Congenital Deafness

1. The goals of the study were to develop a noninvasive pre- natal test for autosomal recessive monogenic conditions and to prove its overall feasibility and potential for clinical integration.