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臨床驗證和案例研究

1. Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies
2. Accurate description of DNA based noninvasive prenatal screening
3. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.
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. Noninvasive 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. Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
9. Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy
10. Non-invasive prenatal testing of trisomies 21 and 18
11. 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
12. False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism
13. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
14. 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
15. False-negative trisomy 18 non-invasive prenatal test result due to 48, XXX, +18 placental mosaicism
16. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.

雙胞胎驗證

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

缺失綜合症驗證

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

無創產前檢測及單基因病

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

性驗色體異常驗證

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.