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Prenatal Diagnosis 封面图

Prenatal Diagnosis

IF2.7
论文数431
被引数6759
期刊论文 431
发表时间
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Prenatal Presentation of Muggenthaler-Chowdhury-Chioza Syndrome Caused by Compound Heterozygous Variants in HYAL2Muggenthaler-Chowdhury-Chioza综合征的产前表现，由HYAL2基因复合杂合变异引起
deletePrenatal Diagnosis
IF2.7
delete2026-10-30
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deleteOAAI
deletePauline Planté-Bordeneuve; Anne-Cécile Leroy-Tarissi; Marine Tessarech; Pauline Gras; Anne Dieux-Coëslier; Morgane Stichelbout; Sonia Bouquillon; Thomas Smol
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Complete Agenesis of the Corpus Callosum and Increased Nuchal Fold in a Fetus With Bainbridge–Ropers Syndrome due to a Likely Pathogenic ASXL3 Variant胼胝体完全缺失伴颈褶增厚，在一例因疑似致病变异 ASXL3 引起的 Bainbridge–Ropers 综合征胎儿中
deletePrenatal Diagnosis
IF2.7
delete2026-10-22
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PREAI
deleteShreyasi Sharma; Chanchal Singh; Radhika Aggarwal; Seema Thakur; Nitika Sobti
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Genome-Wide NIPT With Fetal-Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and -Duplication Detection全基因组NIPT结合胎儿分数富集和BinDel：微缺失和微重复检测的临床队列评估
deletePrenatal Diagnosis
IF2.7
delete2026-10-22
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deleteOAAI
deleteKarmen Vaiküll; Priit Paluoja; Signe Mölder; Vadym Gryshchenko; Neeme Tõnisson; Andres Salumets; Kaarel Krjutškov
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Polymicrogyria and Cardiac Arrhythmia in a Neonate With Biallelic Stop-Gain Variant in TMEM161B: Expanding the Phenotype新生儿双等位基因终止获得变异 TMEM161B 伴脑回发育不全和心律失常：扩展表型
deletePrenatal Diagnosis
IF2.7
delete2026-10-18
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deleteOAAI
deleteMiriam Bertrand; Ute Grasshoff; Cornelia Wiechers; Dennis Witt; Vivien Richter; Andreas Dufke; Karl Oliver Kagan; Tobias B. Haack
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Fetal Postmortem Examination: Confrontation Between the Required, the Needed, and the Accepted胎儿死后检查：所需、必需与可接受之间的冲突
deletePrenatal Diagnosis
IF2.7
delete2026-10-12
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PREAI
deletePatricia Ibarra Vilar; Xin Kang; Mieke M. Cannie; Jacques C. Jani
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Perinatal Outcomes and Determinants of Elective Embryo Reduction in Trichorionic Triplet Pregnancies选择性胚胎减灭术对三叶状三胎妊娠的围产期结局及其影响因素
deletePrenatal Diagnosis
IF2.7
delete2026-10-12
delete0
PREAI
deleteCarlota Rodó; Joaquín Temprado; Silvia Arévalo; Eva Roldán; Elena Moreno; Alba Casellas; Anna Maroto; Alba Farràs; Nerea Maiz
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Fetal Ganglionic Eminence Cysts as an Early Neuroimaging Finding for Mitochondrial Dysfunction Caused by a Novel TMEM70 Variant胎儿神经节丘囊肿作为由新型TMEM70变异引起的线粒体功能障碍的早期神经影像学表现
deletePrenatal Diagnosis
IF2.7
delete2026-10-12
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PREAI
deleteSergio Gómez-Limón; Inés Tamarit; Óscar Toldos; Carmina Bermejo; Irene Gómez-Manjón; Francisco Javier Fernández-Martínez; David Coca; Alberto Galindo; Ignacio Herraiz
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Biological Specificities of Fetal Anemia Induced by Parvovirus B19 Infection细小病毒B19感染引起的胎儿贫血的生物学特性
deletePrenatal Diagnosis
IF2.7
delete2026-10-12
delete0
deleteOAAI
deleteAnaïs Dugas; Paul Maurice; Pierre Olivo-Marin; Mariam Chelghaf; Loriane Franchinard; Ferdinand Dhombres; Lucie Guilbaud; Laurence Berard; Agnès Mailloux; Jean-Marie Jouannic
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Where in the Prenatal Screening Pathway do Ethnic and Socioeconomic Inequalities Occur? A UK Retrospective Cohort Study在产前筛查路径的哪个环节存在种族和社会经济不平等？一项英国回顾性队列研究
deletePrenatal Diagnosis
IF2.7
delete2026-10-09
delete0
PREAI
deleteMichelle Peter; Dagmar Tapon; Lyn S. Chitty; Melissa Hill
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Current Practices in Antenatal CMV Testing and Management in Belgium比利时产前巨细胞病毒检测与管理的现状
deletePrenatal Diagnosis
IF2.7
delete2026-10-08
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PREAI
deleteElena Costa; Célia Primus‐de Jong; Leen Verleye; Renate Zeevaert
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From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction从孤立到复杂：染色体微阵列和外显子测序在胎儿生长受限中的诊断收益
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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低风险人群中对常染色体显性单基因疾病进行泛孕期游离DNA筛查的成本效益分析
deletePrenatal Diagnosis
IF2.7
delete2026-10-06
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PREAI
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尺寸选择性胎盘细胞游离DNA富集在胎儿拷贝数变异无创产前检测中的临床性能评价
deletePrenatal Diagnosis
IF2.7
delete2026-10-05
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PREAI
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在双胎输血综合征fetoscopic激光手术期间进行机会性产前基因检测
deletePrenatal Diagnosis
IF2.7
delete2026-10-04
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PREAI
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在一个具有严重畸形和高遗传易感性的高度近亲通婚围产期队列中的整合分子尸检
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临床实践中游离DNA全基因组分析：一项单中心七年经验
deletePrenatal Diagnosis
IF2.7
delete2026-10-02
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PREAI
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产前胼胝体发育不全患者中测序的诊断率：一项在良好表型国际队列中的研究
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
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deleteOAAI
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选择性胎儿生长受限中心血管和血流动力学适应性：单绒毛膜双胎队列研究
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
delete0
deleteOAAI
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政府资助的囊性纤维化、脊髓性肌萎缩症和脆性X综合征生殖载体筛查的初步审查
deletePrenatal Diagnosis
IF2.7
delete2026-09-29
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deleteOAAI
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澳大利亚PreGen研究：来自275例妊娠前瞻性产前外显子测序的结果
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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