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Δημοσιευμένες αναφορές

Clinical Validation and Case Studies

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 by Massively Parallel Sequencing of Maternal Plasma DNA in Twin Pregnancies
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. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing

Δίδυμες κυήσεις

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

Σύνδρομα διαγραφής

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

Monogenic Diseases

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

Ανευπλοειδίες

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

Congenital anomalies

1. Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of
congenital deafness