Results 11 to 20 of about 195,583 (261)

The implementation and impact of non-invasive prenatal testing (NIPT) for Down's syndrome into antenatal screening programmes: A systematic review and meta-analysis. [PDF]

PLoS One
Background Non-invasive prenatal testing (NIPT) is a widely adopted maternal blood test that analyses foetal originating DNA to screen for foetal chromosomal conditions, including Down’s syndrome (DS).
Sebire E, Rodrigo CH, Bhattacharya S, Black M, Wood R, Vieira R.   +5 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   +4 more sources

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   +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
Women's views on responsible motherhood influence decision-making regarding participation in prenatal screening. Previous studies showed that the probabilistic nature of the first-trimester combined test and the potential requirement for subsequent invasive diagnostics serve as legitimate reasons for women to exclude prenatal screening from their moral
Garcia E, Henneman L, Gitsels-van der Wal JT, Martin L, Koopmanschap I, Bekker MN, Timmermans DRM.   +6 more
europepmc   +7 more sources

Patient experience with non-invasive prenatal testing (NIPT) as a primary screen for aneuploidy in the Netherlands. [PDF]

BMC Pregnancy Childbirth, 2022
Background Non-invasive prenatal testing (NIPT) as a screening method for trisomy 21 and other chromosomal abnormalities has been adopted widely across the globe.
Kristalijn SA, White K, Eerbeek D, Kostenko E, Grati FR, Bilardo CM.   +5 more
europepmc   +5 more sources

Case Report: Challenges of Non-Invasive Prenatal Testing (NIPT): A Case Report of Confined Placental Mosaicism and Clinical Considerations. [PDF]

Front Genet, 2022
Since the introduction of cell-free (cf) DNA analysis, Non-Invasive Prenatal Testing (NIPT) underwent a deep revolution. Pregnancies at high risk for common fetal aneuploidies can now be easily identified through the analysis of chromosome-derived ...
Bonanni G, Trevisan V, Zollino M, De Santis M, Romanzi F, Lanzone A, Bevilacqua E.   +6 more
europepmc   +4 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

Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non-invasive prenatal testing (NIPT). [PDF]

Bioethics, 2020
Informed consent is a key condition for prenatal screening programmes to reach their aim of promoting reproductive autonomy. Reaching this aim is currently being challenged with the introduction of non‐invasive prenatal testing (NIPT) in first‐trimester ...
Kater-Kuipers A, de Beaufort ID, Galjaard RH, Bunnik EM.   +3 more
europepmc   +6 more sources

Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women's experiences. [PDF]

BMC Pregnancy Childbirth, 2019
BackgroundNon-invasive prenatal testing (NIPT) can be used to accurately detect fetal chromosomal anomalies early in pregnancy by assessing cell-free fetal DNA present in maternal blood.
Cernat A, De Freitas C, Majid U, Trivedi F, Higgins C, Vanstone M.   +5 more
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