Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility [PDF]
Heliyon, 2023 Non-invasive prenatal screening (NIPS) offers an opportunity to screen or determine features associated with the fetus. Earlier, prenatal testing was done with cytogenetic procedures like karyotyping or fluorescence in-situ hybridization, which ...
Riyaz Ahmad Rather, Subhas Chandra Saha
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Non-invasive prenatal screening for Emanuel syndrome [PDF]
Molecular Cytogenetics, 2020 Objective The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromosome microduplication detection ...
Yuqin Luo +7 more
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A decade of non-invasive prenatal screening in Australia: National impact on prenatal screening and diagnostic testing. [PDF]
Aust N Z J Obstet Gynaecol, 2023 Prenatal screening for aneuploidy has undergone immense changes over the past two decades. In 2013 cell‐free DNA‐based non‐invasive prenatal testing (NIPT) became a new self‐funded option primarily for Down syndrome screening, but also other aneuploidies and genetic conditions. The numbers of Medicare item claims for prenatal diagnostic procedures have
Hui L, Halliday J.
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Clinical experience with non‐invasive prenatal screening for single‐gene disorders [PDF]
Ultrasound in Obstetrics and Gynecology, 2022 (Abstracted from Ultrasound Obstet Gynecol 2022;59:33–39) First described in 1997, the presence of cell-free fetal DNA in maternal plasma has been increasingly used in the last decade for cell-free DNA (cfDNA)–based noninvasive prenatal testing (NIPT) thanks to advances in molecular genetic technology.
P Billings, Peter Benn
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Combined Model-Based Prediction for Non-Invasive Prenatal Screening. [PDF]
Int J Mol Sci, 2022 The risk of chromosomal abnormalities in the child increases with increasing maternal age. Although non-invasive prenatal testing (NIPT) is a safe and effective prenatal screening method, the accuracy of the test results needs to be improved owing to various testing conditions.
Yang SY +8 more
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Non-Invasive Prenatal Screening for Down Syndrome: A Review of Mass-Spectrometry-Based Approaches [PDF]
LifeDown Syndrome or Trisomy 21 (T21) is a complex genetic disease characterized by the presence of an extra chromosome 21, which leads to multiple clinical features and manifestations that severely affect the patient’s quality of life.
Răzvan Lucian Jurca +5 more
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Editorial: Unravelling the basis of non-invasive prenatal screening results [PDF]
Frontiers in Genetics, 2023 Luigia De Falco +3 more
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Non-invasive prenatal screening: A 20-year experience in Italy [PDF]
European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2019 Over the past two decades, there has been a rapid evolution in prenatal screening for fetal chromosome abnormalities. Initially, testing was focused on the identification of affected pregnancies in either the first, or, the second trimester (e.g.
Chiara Palka +8 more
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Non-invasive prenatal screening & diagnosis of β-thalassaemia in an affected foetus. [PDF]
Indian J Med Res, 2023 Background & objectives: Non-invasive prenatal testing (NIPT) of maternally inherited alleles of β-thalassaemia (MIB) remains to be a challenge. Furthermore, current techniques are not available for use as routine tests.
Suwannakhon N +6 more
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Non-invasive prenatal screening tests – update 2022
Journal of Laboratory Medicine, 2022 Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21.
Kypri Elena +5 more
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