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Klinični podatki
VEČ KOT
10.000.000
TESTOV NIFTY
Do sedaj so nosečnice po vsem svetu opravile več kot 10.000.000 testov z našo tehnologijo, kar je več kot katerikoli drugi ponudnik testov NIPT. To dokazuje, da ponujamo zanesljivo in zaupanja vredno storitev.
VALIDIRAN NA
147.000
NOSEČNOSTI
Test NIFTY je bil neodvisno potrjen z največjo študijo o klinični uporabi testa NIPT na svetu, ki je zajela več kot 147.000 nosečnosti.
Spodaj predstavljamo podatke izbranih študij. Več informacij se nahaja v sekciji Objavljena poročila na dnu strani, kjer najdete nekatere izmed 31 objavljenih študij na temo testiranja NIPT.
Neinvazivno predrojstveno testiranje za trisomije 21, 18 in 13 – klinična izkušnja na podlagi 146.958 nosečnosti
Wei Wang et al., Non-invasive prenatal testing for trisomy 21, 18, and 13 – clinical experience from 146,958 pregnancies, Journal of Ultrasound in Obstetrics and Gynecology
Skupno število vzorcev z znanim izidom nosečnosti v 146.958 primerih
Podrsaj vodoravno za več informacij | Trisomija | Trisomija | Trisomija | Trisomije | ||
|---|---|---|---|---|---|---|
Trisomija | T21 | T18 | T13 | Skupaj | ||
Resnično pozitiven rezultat | 720 | 167 | 22 | 909 | ||
Lažno pozitiven rezultat | 61 | 51 | 45 | 157 | ||
Stopnja zaznave | 99,17% | 98,24% | 100% | 99,02% | ||
Specifičnost | 99,95% | 99,95% | 99,96% | 99,86% | ||
Pozitivna napovedna vrednost (PPV) | 92,19% | 76,61% | 32,84% | 85,27% | ||
Negativna napovedna vrednost (NPV) | 99,99% | 100% | 100% | 99,99% | ||
Vzorci so bili zbrani v obdobju med januarjem 2011 in avgustom 2013. Študija je bila objavljena v znanstveni reviji „Ultrasound in Obstetrics and Gynecology.“
Neinvazivno predrojstveno testiranje fetalnih kromosomskih nepravilnosti: pregled 1982 zaporednih primerov v enem centru
Lau T. K. et al, ‘Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center’, Ultrasound Obstet Gynecol 2014; 43: 254–264
Podrsaj vodoravno za več informacij | Visoko tveganje | Visoko tveganje | Visoko tveganje | Visoko tveganje | ||
|---|---|---|---|---|---|---|
T21 | T18 | T13 | Skupaj | |||
Testiranih vzorcev | 23 | 4 | 2 | 1982 | ||
Kariotipizacija | 23 | 4 | 2 | 29 | ||
Naknadna preiskava | 0 | 0 | 0 | 1645 | ||
Stopnja zaznave | 100% | 100% | 100% | - | ||
Specifičnost | 100% | 100% | 100% | - | ||
Lažno pozitivna stopnja | 0% | 0% | 0% | - | ||
Lažno negativna stopnja | 0% | 0% | 0% | - | ||
Obsežna validacija testa NIFTY za trisomiji 21 in 18 na 11.105 nosečnostih
Dan S. et al, ‘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.’ Prenat. Diagn., 32: 1225–1232. doi: 10.1002/pd.4002
Podrsaj vodoravno za več informacij | Pozitivni rezultati | Pozitivni rezultati | Pozitivni rezultati | Negativni rezultati | Pozitivni rezultati | Negativni rezultati | |||
|---|---|---|---|---|---|---|---|---|---|
Št. primerov | T21 | T18 | T13 | Trisomije (21, 18, 13) | |||||
Pozitiven NIFTY | 11.105 | 140 (3) | 42 (5) | 0 | 10.915 | ||||
Kariotipizacija* | 182 + 2818 | 139 | 41 | 0 | 2820 | ||||
Lažno pozitivna stopnja | 0,03% | 0,03% | N/A | ||||||
Stopnja zaznave | 100,00% | 100,00% | N/A | ||||||
Specifičnost | 99,97% | 99,97% | N/A | ||||||
* Naknadna validacijska kariotipizacija je bila narejena na 182 NIFTY pozitivnih in 2818 NIFTY negativnih ženskah. Med 11.105 ženskami, ki so opravile test NIFTY, 8097 pacientk ni želelo opraviti invazivnega procesa, potrebnega za kariotipizacijo. [Ref. 8]
Dvojno slepa validacija testa NIFTY
Dvojno slepa validacija 3464 vzorcev krvi za NIFTY
Podrsaj vodoravno za več informacij | Trisomija | Trisomija | Trisomija | Trisomije | ||
|---|---|---|---|---|---|---|
T21 | T18 | T13 | ||||
Pozitiven NIFTY | 189 | 64 | 10 | |||
Pozitivna karotipizacija | 188 | 63 | 10 | |||
Št. lažno pozitivnih | 1* | 1* | 0 | |||
Št. lažno negativnih | 0 | 0 | 0 | |||
Stopnja zaznave | 100,00% | 100,00% | 100,00% | |||
Specifičnost | 99,97% | 99,97% | 100,00% | |||
Lažno pozitivna stopnja | 0,03% | 0,029% | 0,00% | |||
Lažno negativna stopnja | 0,00% | 0,00% | 0,00% | |||
Pozitivna napovedna stopnja | 99,49% | 98,44% | 100,00% | |||
* Zaradi nezadostne globine sekvenciranja
Test NIPT: izjave in smernice
Oktober 2012
International Society for Prenatal Diagnosis ISPD
Prenat Diagn 2012;32:1-2
December 2012
The American College of Obstetricians and Gynecologists Committee on Genetics and The Society for Maternal-Fetal Medicine Publications Committee ACOG
Objavljena poročila
Klinične in validacijske študije
Non-invasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies
Accurate Description of DNA-Based Noninvasive Prenatal Screening
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 (NIFTY) test: 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
Nosečnosti z dvojčki
Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing
Delecije
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
Monogenske bolezni
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
Anevplodije
Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women
Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X
Prirojene napake pri nosečnosti
Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness
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