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Raporty

Raporty i opisy wybranych przypadków (wersja angielska)

1. Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146958 Pregnancies
2. Non-invasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing
3. Clinical utility of non-invasive fetal trisomy (NIFTY) test ®C early experience
4. 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
5. Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing
6. Non-invasive Fetal Trisomy (NIFTY) test-an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
7. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing- large scale validity study
8. Non-invasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
9. Feasibility study of semiconductor sequencing for non-invasive prenatal detection of fetal aneuploidy
10. 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
11. Non-invasive prenatal testing of trisomies 21 and 18
12. 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
13. False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism
14. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
15. 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
16. False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism
17. Non-invasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.

Ciąże bliźniacze

1. Effective Non-invasive Zygosity Determination by Maternal Plasma Target Region Sequencing

Zespoły delecji

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

NIPT i choroby monogeniczne

1. Non-invasive 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 non-invasive fetal whole genome recovery through maternal plasma sequencing

Aneuploidie chromosomowe płci

1. Non-invasive prenatal screening of fetal sex chromosomal abnormalities perspective of pregnant women
2. Non-invasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X