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Prenatal Diagnosis cover

Prenatal Diagnosis

IF2.7
Papers468
Citations6759
Journal Papers 421
Publication Date
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From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction
deletePrenatal Diagnosis
IF2.7
delete2026-10-08
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deleteHadas Miremberg; May Shabat; Maya Stok; Vered Offer Glasner; Adi Botvinik; Mordechai Shohat; Michal Levy; Yuval Yaron; Roee Birnbaum; Sharon Perlman; Gustavo Malinger; Karina Krajden Haratz
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Universal Prenatal cfDNA-Single Gene Disorder Screening for Autosomal Dominant Conditions in a Low-Risk Cohort: A Cost-Effectiveness Analysis
deletePrenatal Diagnosis
IF2.7
delete2026-10-06
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deleteMegan E. Bunnell; Claire H. Packer; Sophie Adams; Yael Hoffman Sage
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Clinical Performance Evaluation of Size-Selective Placental Cell-Free DNA Enrichment for Non-Invasive Prenatal Testing of Fetal Copy Number Variants
deletePrenatal Diagnosis
IF2.7
delete2026-10-05
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deleteXiaoyi Liu; Xianzhen Cao; Liang Hu; Yanan Liu; Shuxian Zeng; Weiqiang Liu; Fengxiang Wei
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Opportunistic Prenatal Genetic Testing During Fetoscopic Laser Surgery for Twin–Twin Transfusion Syndrome
deletePrenatal Diagnosis
IF2.7
delete2026-10-04
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deleteJessian L. Munoz; Cara Buskmiller; April D. Adams; Ahmed A. Nassr; Magdalena Sanz Cortes; Michael A. Belfort; Roopali V. Donepudi
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Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility
deletePrenatal Diagnosis
IF2.7
delete2026-10-02
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deleteSihem Darouich; Samia Darouich; Ahmed Khemiri; Dorsaf Gtari; Raoudha Smiti; Ahmed Nhili; Houda Bellamine
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Cell Free DNA Whole Genome in Clinical Practice: A Single Center Seven-Year Experience
deletePrenatal Diagnosis
IF2.7
delete2026-10-02
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deleteAlissa K. Prior; Lauren Taylor; Nick P. Guilda; Cameron Friedman; Jane E. Corteville; Angela C. Ranzini
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Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well-Phenotyped International Cohort
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
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deleteLorraine Dugoff; Natalie Chandler; Stephanie Allen; Sarah A. Graham; Vicki Harrison; Anne McCabe; Anna de Burca; Audrey Smith; Erina Sasaki; Mairead Hagarty; Juliana S. Gebb; Shelly Soni; Sonika Agarwal; Beverly G. Coleman; Haley M. Crane; Mary E. Norton; Billie R. Lianoglou; Alex Gibbs; Lyn S. Chitty
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Cardiovascular and Hemodynamic Adaptations in Selective Fetal Growth Restriction: A Cohort Study of Monochorionic Twins
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
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deleteTanchanok Auwattanamongkol; Nisarat Phithakwatchara; Katika Nawapun; Sommai Viboonchart; Suparat Jaingam; Kanokwaroon Watananirun; Sriwipa Kaewsrinual; Tuangsit Wataganara
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Initial Review of Government-Funded Reproductive Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
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deletePaul A. Scuffham; Edwin P. Kirk; Martin B. Delatycki; Martin Downes; Nigel G. Laing
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The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
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PREAI
deleteConor Rowntree; Gemma Fernihough; Sarah Long; Mohammad Al-Shinnag; Alyssa Wilson; Jayamala Parmar; Natalie Hart; Mandi MacShane; Kate Ross; Di Milnes; Benjamin Kamien; Jan E. Dickinson; Jon Hyett; John Smoleniec; Lesley McGregor; Rachael Stenhouse; Rebecca Vink; Sebastian Lunke; Meg Wall; Lucas de Jong; Abhijit Kulkarni; Rosalie Kenyon; Jinghua Feng; Matilda R. Jackson; Karin Kassahn; Hamish S. Scott; Edwin Kirk; Martin Smith; Futao Zhang; Josh Kraindler; Luke Rynehart; Rupendra Shrestha; Deborah Schofield; Ying Zhu; Michael F. Buckley; George McGillivray; Tony Roscioli; The PreGen Consortium
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Comparative Screening Performance of Noninvasive Prenatal Testing in Assisted Reproduction and Spontaneous Pregnancies
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
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deleteLiang Hu; Xianzhen Cao; Shuxian Zeng; Xiaoyi Liu; Lijuan Wen; Weiqiang Liu; Fengxiang Wei
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Considering Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Prenatal Genetic Assessment of Cystic Renal Anomalies
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
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deleteNoel Deep Luke; Lois Sara James; Manisha Madhai Beck; Preethi Raja Navaneethan; Rekha Aaron; Sumita Danda
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Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
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deleteEran Ashwal; David Chitayat
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Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing
deletePrenatal Diagnosis
IF2.7
delete2026-09-22
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deleteSophie Albert; Anne Swenerton; Kirsten M. Niles; Sylvie Langlois; Jessica L. Zambonin
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Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings
deletePrenatal Diagnosis
IF2.7
delete2026-09-22
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deleteTing Xu; Qingwen Zeng; Xinyi Lu; Xiaoyan Huo; Huili Liu; Tingting Yang; Linlin Chen; Qianfeng Zhao; Yi Liu; Yu Sun; Bing Xiao; Wenjuan Qiu; Lei Wang; Hong Zhu; Huiwen Zhang; Yongguo Yu; Yanjie Fan
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Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity
deletePrenatal Diagnosis
IF2.7
delete2026-09-22
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deleteMengdie Zhang; Juan Li; Chunying Ren; Yaming Liu; Wuke Bian; Xiao Han; Mengru Wang; Xiaotian Chen; Yukun Hu; Meilin Kan; Ling Liu
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Prenatal Presentation of ENPP1-Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype–Genotype Report
deletePrenatal Diagnosis
IF2.7
delete2026-09-22
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deleteIsmail Tekesin; Gunter Kerst; Loredana Delle Chiaie; April Dinwiddie; Heinz Gabriel
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Cytogenetic and Molecular Findings in Hydrops-Related Mirror Syndrome
deletePrenatal Diagnosis
IF2.7
delete2026-09-22
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deleteBrian A. Burnett; Christian M. Parobek; Jessian L. Munoz; Lauren E. Westerfield; Kristi Poling; Cara Buskmiller; Amir A. Shamshirsaz; Roopali V. Donepudi; Ignatia B. Van den Veyver; Magdalena Sanz Cortes; Michael A. Belfort; Ahmed A. Nassr
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Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?
deletePrenatal Diagnosis
IF2.7
delete2026-09-22
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deleteShiri Shinar; Yada Kunpalin; Elka Miller
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Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases
deletePrenatal Diagnosis
IF2.7
delete2026-09-22
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deleteL. Guibaud; M. Bordas-Fournel; S. Cabet; C. Le Vaillant; A. Bruel; T. Lefrançois; C. Megier; A. Benachi; M. Sohier; Y. Gallois; T. Simon; J.-M. Jouannic; G. Canaud; A. Guilhem; A. Atallah; A. Fraissenon
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