Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype by Yaqing Zhou, Mingxi Zhang, Yanmin Zhu, Qi Zhao

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Epigenetic phenotype of plasma cell-free DNA in the prediction of early-onset preeclampsia by Wei He, Yi Zhang, Kai Wu, Yunan Wang, Xin Zhao, Lijuan Lv, Congmian Ren, Jiaqi Lu, Jiexia Yang, Aihua Yin, Guocheng Liu

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Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops—A case report by Kathleen Bone, Melissa Jean MacPherson, Judy Chernos, Julie Lauzon

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A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma by Luigia De Falco, Giuseppina Vitiello, Giovanni Savarese, Teresa Suero, Raffaella Ruggiero, Pasquale Savarese, Monica Ianniello, Nadia Petrillo, Mariasole Bruno, Antonietta Legnante, Francesco Fioravanti Passaretti, Carmela Ardisia, Attilio Di Spiezio Sardo, Antonio Fico

Subjects: “…non-invasive prenatal testing…”
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Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance. by Gabriel Minarik, Gabriela Repiska, Michaela Hyblova, Emilia Nagyova, Katarina Soltys, Jaroslav Budis, Frantisek Duris, Rastislav Sysak, Maria Gerykova Bujalkova, Barbora Vlkova-Izrael, Orsolya Biro, Balint Nagy, Tomas Szemes

“…Following the physical size selection z scores of tested trisomic samples increased significantly--p = 0.0141 and p = 0.025 for Ion Torrent PGM and MiSeq, respectively.Noninvasive prenatal testing for chromosome 21 trisomy with the utilization of benchtop NGS systems led to results equivalent to previously published studies performed on high-to-ultrahigh throughput NGS systems. …”
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Prenatal Diagnosis and Pregnancy Termination in Jewish and Muslim Women with a Deaf Child in Israel by Aliza Amiel, Wasef Na’amnih, Mahdi Tarabeih

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A case of placental trisomy 18 mosaicism causing a false negative NIPT result by Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY, Aihua Yin

Subjects: “…The non-invasive prenatal testing (NIPT)…”
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Non-invasive prenatal screening tests – update 2022 by Kypri Elena, Ioannides Marios, Achilleos Achilleas, Koumbaris George, Patsalis Philippos, Stumm Markus

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Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin by Pascale Kleinfinger, Armelle Luscan, Léa Descourvieres, Daniela Buzas, Aicha Boughalem, Stéphane Serero, Mylène Valduga, Detlef Trost, Jean-Marc Costa, Alexandre J. Vivanti, Laurence Lohmann

Subjects: “…noninvasive prenatal testing…”
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The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data by Iolanda Veneruso, Annaluisa Ranieri, Noemi Falcone, Lorella Tripodi, Carmela Scarano, Ilaria La Monica, Lucio Pastore, Barbara Lombardo, Valeria D’Argenio

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Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing by Lilla Botos, Erzsébet Szatmári, Gyula Richárd Nagy

Subjects: “…Non-invasive prenatal testing…”
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The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies by Hongge Li, Yu Lei, Hui Zhu, Yuqin Luo, Yeqing Qian, Min Chen, Yixi Sun, Kai Yan, Yanmei Yang, Bei Liu, Liya Wang, Yingzhi Huang, Junjie Hu, Jianyun Xu, Minyue Dong

Subjects: “…Non-invasive prenatal testing (NIPT)…”
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Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform by Jiexia Yang, Jing Wu, Haishan Peng, Yaping Hou, Fangfang Guo, Dongmei Wang, Haoxin Ouyang, Yixia Wang, Aihua Yin

Subjects: “…Noninvasive prenatal testing (NIPT)…”
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Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities by Chunjiao Yu, Ying Tian, Liang Qi, Bo Wang

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Non-Invasive Prenatal Test Analysis Opens a Pandora’s Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome by Cristina Politi, Katia Grillone, Donatella Nocera, Emma Colao, Michelle Li Bellisario, Sara Loddo, Giorgia Catino, Antonio Novelli, Nicola Perrotti, Iuliano Rodolfo, Paola Malatesta

“…Our study was a consequence of a Non-Invasive Prenatal Test (NIPT) showing a sexual chromosomal abnormality (XXY) followed by a chorionic villus analysis suggesting a normal karyotype 46,XX and t(X;Y) translocation detected by FISH. …”
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Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction and a favorable fetal outcome in a pregnancy by Chih-Ping Chen, Tsang-Ming Ko, Shin-Wen Chen, Schu-Rern Chern, Fang-Tzu Wu, Yen-Ting Pan, Chen-Wen Pan, Yun-Yi Chen, Wayseen Wang

“…Objective: We present low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing (NIPT) for trisomy 9, maternal uniparental disomy (UPD) 9, intrauterine growth restriction (IUGR) and a favorable fetal outcome in a pregnancy. …”
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Clinical and Cost Impact Analysis of a Novel Prognostic Test for Early Detection of Preterm Birth by Aaron B. Caughey, John A. F. Zupancic, James M. Greenberg, Susan S. Garfield, Stephen F. Thung, Jay D. Iams

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Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results by Qinfei Zhao, Jing Chen, Ling Ren, Huijuan Zhang, Dedong Liu, Xuxiang Xi, Xiangsheng Wu, Chunyun Fang, Ping Ye, Shaoying Zeng, Tianyu Zhong

Subjects: “…Non-invasive prenatal testing (NIPT)…”
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Clinical and genetic study of three families with 15q11q13 duplications by Jieping Song, Xu Liu, Chengcheng Zhang, Fei Xu, Bo Wang

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Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases by Na Ma, Zhenhua Zhu, Jiancheng Hu, Jialun Pang, Shuting Yang, Jing Liu, Jing Chen, Wanglan Tang, Haiyan Kuang, Rong Hu, Zhuo Li, Hua Wang, Ying Peng, Hui Xi

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