Results 71 to 80 of about 2,707,119 (197)

Application of Cell‐Free DNA Barcode‐Enabled Single‐Molecule Test for Non‐Invasive Prenatal Testing of α‐Thalassemia and β‐Thalassemia

Journal of Clinical Laboratory Analysis, Volume 40, Issue 16, August 2026.
We evaluated the cfBEST assay for non‐invasive prenatal testing of α‐ and β‐thalassemia in 72 families. The assay correctly identified 88 of 93 fetal alleles, achieving an overall accuracy of 94.6%, a sensitivity of 94%, and a specificity of 95.35%, with 100% concordance with postnatal follow‐up.
Qin Liu, Na Ma, Wanglan Tang, Qianting Chen, Deguo Tang, Chunyan Zeng, Xiaofeng Wang, Hui Xi   +7 more
wiley   +1 more source

Concordance analysis between noninvasive prenatal testing (NIPT) and prenatal karyotyping for detecting fetal aneuploidies

Revista de la Facultad de Medicina, 2022
Introduction: Noninvasive prenatal testing (NIPT) is a screening test for fetal aneuploidy with higher specificity and sensibility rates compared to traditional biochemical prenatal screening. Objective: To evaluate concordance between NIPT and prenatal karyotyping testing for detecting fetal aneuploidies in pregnancies with high risk of such disorders.
Diana Carolina Grajales-Ospina, Luz Karime Yunis-Hazbun, Andrés Mauricio Camacho-Montaño, Alejandro Antonio Bautista-Charry, Reinaldo Niño-Alba, Juan José Yunis   +5 more
openaire   +1 more source

Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype

Molecular Cytogenetics, 2022
Background Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm ...
Yaqing Zhou, Mingxi Zhang, Yanmin Zhu, Qi Zhao   +3 more
doaj   +1 more source

Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report

Molecular Cytogenetics, 2022
Background Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT
Hana Sahinbegovic, Stephanie Andres, Sabine Langer-Freitag, Aspasia Divane, Fotini Ieremiadou, Senad Mehmedbasic, Aida Catic   +6 more
doaj   +1 more source

Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation [PDF]

, 2020
Introduction Noninvasive prenatal testing (NIPT) using cell-free fetal DNA has increasingly been adopted as a screening tool for fetal aneuploidies.
Shand, A, Grati, Francesca Romana, Petersen, Olav B, Hui, L, Kasper Gadsbøll, Gadsbøll, K, Petersen, OB, Hardardottir, Hildur, Liehr, Thomas, Jacobsson, Bo,, Edwards, Lindsay, de Alba, Marta Rodriguez, The NIPT‐map Study Group, Srebniak, Malgorzata, Gadsbøll, Kasper, Vermeesch, JR, Helmer, H, Jacobsson, Bo, Srebniak, Malgorzata I., Sethna, F, Vermeesch, Joris R., Shand, Antonia, Vedmedovska, Natalija, Strange, H, Calda, Pavel, Vogel, I, Machtejeviene, E, Peterlin, B, Duncombe, G, Grati, FR, Liehr, T, Popp, R, Heather Strange, Vermeesch, Joris, Patsalis, Philippos, Stipoljev, Feodora, Velissariou, Voula, Patsalis, P, Vincent Gatinois, Vedmedovska, N, Strange, Heather, Petersen, Olav, Celec, Petet, Dickinson, Jan, Machtejeviene, Egle, Petersen, Olav Bjørn, Sethna, Farah, Bo Jacobsson, Nowakowska, B, Minarik, G, Vogel, Ida, Szirko, Ferenc, Jacobsson, B, Helmer, Hanns, Rodriguez de Alba, Marta, Hardardottir, H, Gadsboll, Kasper, Velissariou, V, Melo, Joana B., Celec, P, Ronald Wapner, Stefanovic, V, Gatinois, Vincent, Stefanovic, Vedran, Srebniak, MI, Eggebø, TM, Joris R. Vermeesch, Eggebo, Torbjorn Moe, Lebedev, Igor, Minarik, Gabriel, Vermeesch, Joris R, Dickinson, J, Duncombe, Greg, Hui, Lisa, Popp, Radu, Stipoljev, F, Muller, P, Melo, JB, Moe Eggebø, Torbjørn, Edwards, L, Olav B. Petersen, Wapner, R, Szirko, F, de Alba, MR, Romana Grati, Francesca, Calda, P, Muller, Peter, Peterlin, Borut, Ida Vogel, Gatinois, V, Wapner, Ronald, Robert Vermeesch, Joris, Lebedev, I, Petersen, Olav B., Nowakowska, Beata   +94 more
core   +1 more source

Predicting fetoplacental mosaicism during cfDNA-based NIPT.

, 2020
Purpose of review Cell-free DNA-based noninvasive prenatal testing (cfDNA-based NIPT) using maternal blood is highly sensitive for detecting fetal trisomies.
Neofytou, M.
core   +1 more source

Termination of Pregnancy After NonInvasive Prenatal Testing (NIPT): Ethical Considerations [PDF]

, 2018
This article explores the Nuffield Council on Bioethics’ recent report about non-invasive prenatal testing. Given that such testing is likely to become the norm, it is important to question whether there should be some ethical parameters regarding its ...
Shakespeare, Tom, Hull, Richard
core   +2 more sources

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, Volume 2, Issue 2, June 2026.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

Multi‐Omics Reveals Early Pregnancy Placental Dysfunction Associated With Preterm and Term Preeclampsia

MedComm, Volume 7, Issue 6, June 2026.
Preeclampsia, a severe pregnancy‐induced disorder unique to humans, affects ∼5% of pregnancies globally. To understand the pathogenesis of preeclampsia, this study performed a comprehensive multi‐omics analysis of early pregnancy placental biopsies (chorionic villus samples) from pregnancies that later developed preterm/term preeclampsia, compared to ...
Ellen Menkhorst, Guannan Yang, Yimiao Yu, Leilani L. Santos, Wei Zhou, Argyro Syngelaki, Swati Varshney, Nicholas A. Williamson, Kaori Koga, Daniel Lorber Rolnik, Fabricio da Silva Costa, Kypros Nicolaides, Kim‐Anh Lê Cao, Evdokia Dimitriadis   +13 more
wiley   +1 more source

High risk-What's next?:A survey study on decisional conflict, regret, and satisfaction among high-risk pregnant women making choices about further prenatal testing for fetal aneuploidy

, 2019
OBJECTIVES: To investigate decision making among pregnant women when choosing between noninvasive prenatal testing, invasive testing, or no further testing.METHODS: Women with a high-risk result from the first trimester screening were invited to fill in ...
Miltoft, Caroline Borregaard,, Miltoft, CB, Charlotta Ingvoldstad Malmgren, Tabor, Ann,, Tabor, Ann, Caroline Borregaard Miltoft, Finn Stener Jørgensen, Hartwig, Tanja Schlaikjaer, Jörgensen, Finn Stener,, Malmgren, Charlotta Ingvoldstad, Ann Tabor, Jorgensen, FS, Ingvoldstad Malmgren, Charlotta,, Malmgren, CI, Tanja Schlaikjær Hartwig, Hartwig, TS, Borregaard Miltoft, Caroline, Jørgensen, Finn Stener, Hartwig, Tanja Schlaikjaer,, Tabor, A   +19 more
core   +1 more source