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Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies [PDF]

Folia Medica
Non-invasive prenatal testing (NIPT) has transformed prenatal screening, offering high sensitivity and specificity in the detection of common fetal aneuploidies.
Slavyana Galeva, Boris Stoilov, Ekaterina Uchikova +2 more
doaj +3 more sources

Raskaudenaikaiset tutkimukset Suomessa : NIPT-tutkimus [PDF]

Opinnäytetyön taustalla oli tarve tarkastella raskaudenaikaisten seulontatutkimusten merkitystä osana suomalaista äitiysneuvolatoimintaa sekä selvittää NIPT-tutkimuksen asemaa suhteessa perinteisiin seulontamenetelmiin.
Välimäki, Terhi, Korpi, Hanna
core

Etiske utfordringer med non-invasive prenatale tester (NIPT)

, 2014
Analyser av cellefritt DNA fra foster i gravide kvinners blod gir nye muligheter innen fosterdiagnostikk: Testene er bedre enn eksisterende tester, de reduserer risikoen og er billigere.
Bjørn Hofmann, Hofmann, Bjørn
core +1 more source

Pregnant women’s information preferences after undergoing NIPT.

, 2016
Pregnant women’s information preferences after undergoing NIPT.
Josephine Wincent (2794045) +5 more
core +1 more source

The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy

Scientific Reports
To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform.
Dongmei Wang +5 more
doaj +1 more source

Scatter plot of probabilistic sensitivity analysis, universal NIPT vs MSS.

, 2015
The figure below plots the incremental cost and effectiveness results from 1,000 simulations. Compared to MSS, there is a 100% probability that universal NIPT is more effective and 91.8% probability that universal NIPT is less costly.
Richard E. Nelson (764526) +5 more
core +1 more source

Breakdown of the NIPT Final Results.

, 2014
Trisomy 13 and 18 began reporting in February 2012.Breakdown of the NIPT Final Results.
Jennifer A. Geis (640887) +11 more
core +1 more source

The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases

Frontiers in Genetics
BackgroundChromosomal abnormalities are the main cause of birth defects in newborns. Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been applied to the detection of common trisomy (T21, T18, T13).
Shichun Shen +5 more
doaj +1 more source

NIPT Laboratory Performance.

, 2014
The table shows key laboratory performance indicators. Business days are defined as Monday through Friday excluding federal holidays. Canceled tests are samples that are inappropriate for testing primarily those with no indication for testing.
Jennifer A. Geis (640887) +11 more
core +1 more source

NIPT/NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities：a retrospective study

Abstract Introduction: This is a retrospective study of 306 pregnant women of which 182 had genetic testing with NIPT plus and CMA, and another 124 had genetic testing with standard NIPT and CMA. To compare the clinical performance of NIPT and NIPT plus in prenatal evaluation, and the NIPT results were compared to CMA as the gold standard to ...
Meilin Chen# +7 more
openaire +1 more source

non-invasive prenatal testing
prenatal screening
medicine

noninvasive prenatal testing
non-invasive prenatal testing nipt
positive predictive value

prenatal diagnosis
genetic counseling