Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing by Jialing Yu, Na Chen, Min Chen, Min Shen, Yeqing Qian, Minyue Dong, Minyue Dong, Minyue Dong

“…Herein, we report a fetus of tetrasomy 9p without obvious phenotypic manifestations during the first trimester that was identified by non-invasive prenatal testing (NIPT). NIPT revealed that the gain of 9p24.3–9p11 that was approximately 46.36 Mb in size. …”
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Evaluation of pre-test counselling offered for non-invasive prenatal testing (NIPT) as a primary screening tool by Ho Yin Diana Lee, Lin Wai Chan

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Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey by Al Sabbah H, Khan S, Hamadna A, Abu Ghazaleh L, Dudin A, Karmi BA

“…A questionnaire on prenatal testing, test results, pregnancy outcomes, and factors influencing the decision to terminate the pregnancy were used for this cross-sectional study. …”
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Prenatal testing - diagnostic possibilities in the 21st century with special emphasis on the diagnosis of genetic defects and heart defects by Grzegorz Tarsa, Rami Ben Rhaiem, Katarzyna Sudelska, Zuzanna Sawińska, Przemysław Kępka, Aleksandra Łokczewska-Bojar, Daria Kuziemkowska, Jan Kuźma, Magdalena Skotalczyk, Anna Łącka-Majcher

“…Invasive diagnostics include tests such as amniocentesis and chorionic villus biopsy. Prenatal tests provide information on the risk of genetic diseases such as trisomy 21, 13 and 18 chromosome. …”
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Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions by Rachèl V. van Schendel, Carla G. van El, Eva Pajkrt, Lidewij Henneman, Martina C. Cornel

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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases by Xinran Lu, Chaohong Wang, Yuxiu Sun, Junxiang Tang, Keting Tong, Jiansheng Zhu

Subjects: “…Noninvasive prenatal testing…”
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Performance capabilities of prenatal diagnosis of chromosomal anomalies: what changed with the introduction of non-invasive prenatal test (NIPT)? by O.A. Burka, V.S. Cherevashko, D.A. Martynova, G.I. Ishchenko, O.I. Maksian, S.O. Knyhnytska

“…This review systematizes scientific data on the possibilities and limitations of combined prenatal screening for detecting common chromosomal abnormalities (CA) in the first trimester of pregnancy, as well as an innovative technology – non-invasive prenatal test (NIPT) based on free fetal DNA fraction. …”
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A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication by Chih-Ping Chen, Shin-Wen Chen, Peih-Shan Wu, Fang-Tzu Wu, Wayseen Wang

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Evaluation of a Microhaplotype-Based Noninvasive Prenatal Test in Twin Gestations: Determination of Paternity, Zygosity, and Fetal Fraction by Zhaochen Bai, Hu Zhao, Shaobin Lin, Linhuan Huang, Zhiming He, Huan Wang, Xueling Ou

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The salience of genomic information to reproductive autonomy: Australian healthcare professionals’ views on a changing prenatal testing landscape by Kerryn Drysdale, J. L. Scully, L. Kint, K.-J. Laginha, J. Hodgson, I. Holmes, K. L. MacKay, A. J. Newson

“…Qualitative interviews with Australian healthcare professionals revealed that they value prenatal testing for its information-giving potential. …”
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Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia by Yusra Alyafee, Abeer Al Tuwaijri, Qamre Alam, Muhammad Umair, Shahad Haddad, Mashael Alharbi, Maryam Ballow, Mohammed Al Drees, Abdulkareem AlAbdulrahman, Aziza Al Khaldi, Majid Alfadhel, Majid Alfadhel

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Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study by Xiying Yuan, Weinan Wang, Lei Dai, Wenjing Yong, Chenlin Pei, Jingzhi Li, Lingqian Wu

Subjects: “…Noninvasive prenatal testing…”
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Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions. by Marcel Kucharik, Andrej Gnip, Michaela Hyblova, Jaroslav Budis, Lucia Strieskova, Maria Harsanyova, Ondrej Pös, Zuzana Kubiritova, Jan Radvanszky, Gabriel Minarik, Tomas Szemes

“…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. …”
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Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology by Uzay Gormus, Alka Chaubey, Suresh Shenoy, Yong Wee Wong, Lee Yin Chan, Bao Ping Choo, Liza Oraha, Anna Gousseva, Fredrik Persson, Lawrence Prensky, Ephrem Chin, Madhuri Hegde

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Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization by Rong Wei, Jingran Li, Yuanyuan Xia, Chaohong Wang, Xinran Lu, Yuqin Fang, Jiansheng Zhu

Subjects: “…Non-invasive prenatal testing (NIPT)…”
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Evaluation of a decision aid for prenatal testing of fetal abnormalities: a cluster randomised trial [ISRCTN22532458] by Meiser Bettina, Metcalfe Sylvia, Lewis Sharon, Nagle Cate, Carlin John B, Bell Robin, Gunn Jane, Halliday Jane

“…Decision-making about prenatal testing for fetal abnormalities is often confusing and difficult for women and the effectiveness of decision aids in this field has not been established. …”
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An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing. by Ting Wang, Quanze He, Haibo Li, Jie Ding, Ping Wen, Qin Zhang, Jingjing Xiang, Qiong Li, Liming Xuan, Lingyin Kong, Yan Mao, Yijun Zhu, Jingjing Shen, Bo Liang, Hong Li

“…Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate (FNR) and false positive rate (FPR) in fetal sex prediction as well as in SCAs detection. …”
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The impact of invasive prenatal testing on anxiety and sleep quality in pregnant women with a screen-positive result for aneuploidy by Murat Akbas, Faik Mumtaz Koyuncu, Yeşim Bülbül, Burcu Artunc-Ulkumen, Alptekin Çetin

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Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT by Line Dahl Jeppesen, Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Sara Markholt, Dorte L. Lildballe, Dorte L. Lildballe, Ida Vogel, Ida Vogel

Subjects: “…cell-based noninvasive prenatal testing…”
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Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review by Siping Liu, Fang Yang, Qingxian Chang, Bei Jia, Yushuang Xu, Ruifeng Wu, Liyan Li, Weishan Chen, Ailan Yin, Fodi Huang, Suxin Feng, Fenxia Li

Subjects: “…Noninvasive prenatal testing…”
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