NIFTY - Vodeći neinvazivan prenatalni test u svijetu.

Published reports

Clinical and validation studies

Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies Accurate description of non-invasive prenatal DNA testing Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing 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 Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing Noninvasive Fetal Trisomy NIPT by GenePlanet test is an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies Non invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing large scale validity study Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy Noninvasive prenatal testing of trisomies 21 and 18 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 False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole-genome sequencing as a clinical service

Twins pregnancies

Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing

Deletions syndromes

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

Monogenic diseases

Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in a-Thalassemia Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with Maple syrup urine disease Haplotype-assisted accurate noninvasive fetal whole-genome recovery through maternal plasma sequencing

Aneuplodies

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

Pregnancy inborn deformations

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

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