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Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT) [PDF]

Biomolecules
This article reviews the current applications of the digital polymerase chain reaction (dPCR) in non-invasive prenatal testing (NIPT) and explores its potential to complement or surpass the capabilities of Next-Generation Sequencing (NGS) in prenatal ...
Ying Guo, Pimlak Charoenkwan, Kuntharee Traisrisilp, Wirawit Piyamongkol, Fuanglada Tongprasert   +4 more
doaj   +5 more sources

Non-invasive prenatal testing (NIPT): is routinization problematic? [PDF]

BMC Medical Ethics, 2023
Background The introduction and wide application of non-invasive prenatal testing (NIPT) has triggered further evolution of routines in the practice of prenatal diagnosis.
Christoph Rehmann-Sutter, Daniëlle R. M. Timmermans, Aviad Raz   +2 more
doaj   +3 more sources

Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions [PDF]

Diagnostics, 2023
Non-invasive prenatal testing was first discovered in 1988; it was primarily thought to be able to detect common aneuploidies, such as Patau syndrome (T13), Edward Syndrome (T18), and Down syndrome (T21).
Siva Shantini Jayashankar, Muhammad Luqman Nasaruddin, Muhammad Faiz Hassan, Rima Anggrena Dasrilsyah, Mohamad Nasir Shafiee, Noor Akmal Shareela Ismail, Ekram Alias   +6 more
doaj   +3 more sources

Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals. [PDF]

BMC Pregnancy Childbirth, 2018
BackgroundThe introduction of non-invasive prenatal testing (NIPT) for foetal aneuploidies is currently changing the field of prenatal screening in many countries. As it is non-invasive, safe and accurate, this technique allows for a broad implementation
Kater-Kuipers A, Bunnik EM, de Beaufort ID, Galjaard RJH.   +3 more
europepmc   +4 more sources

Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions. [PDF]

PLoS One, 2020
Objective To study the detection limits of chromosomal microaberrations in non-invasive prenatal testing with aim for five target microdeletion syndromes, including DiGeorge, Prader-Willi/Angelman, 1p36, Cri-Du-Chat, and Wolf-Hirschhorn syndromes. Method
Kucharik M, Gnip A, Hyblova M, Budis J, Strieskova L, Harsanyova M, Pös O, Kubiritova Z, Radvanszky J, Minarik G, Szemes T.   +10 more
europepmc   +3 more sources

Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports [PDF]

Frontiers in Medicine, 2022
We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy
Kyung Min Kang, Soo Hyun Kim, Ji Eun Park, Hyunjin Kim, Hee Yeon Jang, Minyeon Go, Minyeon Go, So Hyun Yang, Sang Woo Ryu, Sung Mi Bae, Dong Hyun Cha, Dong Hyun Cha, Sung Han Shim, Sung Han Shim   +13 more
doaj   +3 more sources

The influence of experiential knowledge and societal perceptions on decision-making regarding non-invasive prenatal testing (NIPT). [PDF]

BMC Pregnancy Childbirth, 2020
Background Non-invasive prenatal testing (NIPT) allows women to access genetic information about their fetuses without the physical risk inherent to prior testing methods.
Montgomery S, Thayer ZM.
europepmc   +4 more sources

Mainstreaming genetics into Italian prenatal care: exploring the future implementation of non-invasive prenatal testing (NIPT) in the Italian National Healthcare System using stakeholder interviews [PDF]

BMJ Public Health
Introduction Non-invasive prenatal testing (NIPT) has revolutionised the way prenatal testing is performed globally. Italy is one of the European countries considering incorporating NIPT nationwide into the publicly funded healthcare system.
Giulia Sesa, Katarzyna Czabanowska, Kristiaan Kok, Terry Vrijenhoek   +3 more
doaj   +3 more sources

Non-invasive prenatal testing (NIPT) and pregnant women's views on good motherhood: a qualitative study. [PDF]

Eur J Hum Genet, 2022
Garcia E, Henneman L, Gitsels-van der Wal JT, Martin L, Koopmanschap I, Bekker MN, Timmermans DRM.   +6 more
europepmc   +4 more sources

Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens' attitudes. [PDF]

Eur J Hum Genet, 2021
Kater-Kuipers A, Bakkeren IM, Riedijk SR, Go ATJI, Polak MG, Galjaard RH, de Beaufort ID, Bunnik EM.   +7 more
europepmc   +4 more sources