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Aneuploidy

Protocol for a prospective observational cohort study to assess clinical applications of expanded noninvasive prenatal testing (NIPT) in pregnancies with placental dysfunction

Ana Villalba, M. Ángeles Sánchez-Durán, Carmen Orellana, Mercedes Sobreviela, María M. Gil, Rosa María Lobo, Irene Gómez-Manjón, Cristina Cea, Laia Pedrola Vidal, Sebastian Menao, Raquel Martin-Alonso, Gonzalo E. Quesada, Eva Albuixech, Mónica Roselló Piera, Eva Valle, Eduardo Tizzano, Alberto Galindo, Manel Mendoza, Beatriz Marcos, José Vicente Cervera, Belén Santacruz, Daniela Piazzolla, Lieve Page-Christiaens, Diego Lerma, Ramiro Quiroga, Francisco Javier Fernández, Ignacio Herraiz

published 09 Apr 2026

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Analysis of morphological, morphokinetics, cell-free DNA, microRNAs parameters to predict aneuploidy status of embryos

Achmad Kemal Harzif, Intan Indah Permatasari, Patricia Alika Kurniawan, Thalia Amila Elsiyana, Fistyanisa Elya Charilda, Azizah Fitriayu Andyra, Heidi Dewi Mutia, Nafi’atul Ummah, Putri Nurbaeti, Amalia Shadrina, Pritta Ameilia Iffanolida, Kresna Mutia, Ririn Rahmala Febri, Retno Asti Werdhani, Dwi Anita Suryandari, Wisnu Jatmiko, Arief Boediono, Hartanto Bayuaji, R. Muharam Natadisastra, Budi Wiweko

published 02 Apr 2026

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Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study

Meiying Cai, Na Lin, Linjuan Su, Meimei Fu, Hailong Huang, Liangpu Xu

published 16 Dec 2025

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Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation

Xiangmei Sun, Yuyi Ying, Caiping Chen, Xiaoliang Shi

published 08 Oct 2025

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Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples

Li Wen, Yanzhen Zhang, Wen Zhang, Aifen Mao, Xiangjuan Li

published 18 Sep 2025

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Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies

Jianxin Zhen, Liting Zhang, Huilin Wang, Xi Chen, Weihong Wang, Lili Li, Quanfu Zhang

published 18 Aug 2025

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Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing

Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Nicole Salameh, Paola Evangelidou, Marios Tomazou, Andreas Mavrides, Sozos Fasouliotis, George Anastasiou, Andreas Stavroulis, Niki Agathokleous, Maria Agathokleous, Stelios Tsangarides, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Emilia Athanasiou, Sofia Ourani, Violetta C. Anastasiadou, George Tanteles, Ludmila Kousoulidou, Carolina Sismani

published 25 Feb 2025

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Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies

Shaozhe Yang, Yuan Zhuang, Junfeng Li, Xiuhong Fu

published 24 Jan 2025

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Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities: A systematic review and meta-analysis of diagnostic test accuracy

Marton Konya, Agnes Czimbalmos, Lotti Loczi, Tamas Koi, Caner Turan, Rita Nagy, Nandor Acs, Peter Hegyi, Szabolcs Varbiro, Aniko Gal

published 05 Nov 2024

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Characterizing primary transcriptional responses to short term heat shock in Down syndrome

Joseph F. Cardiello, Jessica Westfall, Robin Dowell, Mary Ann Allen

published 08 Aug 2024

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Chromosomal analysis of single sperm cells from infertile couples with severe oligoteratozoospermia: A cross-sectional prospective study

Supitcha Sassanarakkit, Sudaporn Chamnankran, Artitaya Singwongsa, Matchuporn Sukprasert, Chonthicha Satirapod

published 14 Jun 2024

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Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand

Preechaya Wongkrajang, Jiraphun Jittikoon, Sermsiri Sangroongruangsri, Pattarawalai Talungchit, Pornpimol Ruangvutilert, Tachjaree Panchalee, Usa Chaikledkaew

published 20 Apr 2023

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A comprehensive performance analysis of sequence-based within-sample testing NIPT methods

Tom Mokveld, Zaid Al-Ars, Erik A. Sistermans, Marcel Reinders

published 14 Apr 2023

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