Research map: Molecular Prenatal Diagnosis of Monogenic Diseases, Towards Non-invasive Procedures

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
  2. Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases · 2026 · Related
  3. Presence of fetal DNA in maternal plasma and serum · Yuk Ming Dennis Lo · 1997 · 3099 citations · Cited by this paper
  4. Associations between Red Blood Cell Transfusions and Health-Related Outcomes in Older Adults with Hip Fractures: A Systematic Review with Meta-Analysis · 2026 · Related
  5. Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus · Yuk Ming Dennis Lo · 2010 · 1127 citations · Cited by this paper
  6. Transcriptomic Profiling and miRNA-Target Gene Network Construction Reveals Epigenetic Drivers of Glucocorticoid-Induced Osteoporosis · 2025 · Related
  7. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study · Jenny Lord · 2019 · 729 citations · Cited by this paper
  8. Developmental Origins of Health and Disease: The role of Clostridioides difficile Colonization of Gut Microbiota During Infancy · 2027 · Related
  9. Analysis of cell‐free DNA in maternal blood in screening for aneuploidies: updated meta‐analysis · Maria M. Gil · 2017 · 693 citations · Cited by this paper
  10. A cytogenetic survey of 14,069 newborn infants · JOHN L. HAMERTON · 1975 · 570 citations · Cited by this paper
  11. Gestational age and maternal weight effects on fetal cell‐free DNA in maternal plasma · Eric Wang · 2013 · 444 citations · Cited by this paper
  12. TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands · Karuna R. M. van der Meij · 2019 · 385 citations · Cited by this paper
  13. Promises, pitfalls and practicalities of prenatal whole exome sequencing · Sunayna K. Best · 2017 · 378 citations · Cited by this paper
  14. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma · Fiona M. F. Lun · 2008 · 373 citations · Cited by this paper
  15. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta‐analysis · Laurent Julien Salomon · 2019 · 371 citations · Cited by this paper
  16. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation · Michelle M. Clark · 2019 · 307 citations · Cited by this paper
  17. Committee Opinion No.682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology · 2016 · 291 citations · Cited by this paper
  18. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA · Jinglan Zhang · 2019 · 274 citations · Cited by this paper
  19. High-Resolution Profiling of Fetal DNA Clearance from Maternal Plasma by Massively Parallel Sequencing · Stephanie C Y Yu · 2013 · 243 citations · Cited by this paper
  20. Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis · Rhiannon Mellis · 2022 · 242 citations · Cited by this paper
  21. Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive approach · Lyn S. Chitty · 2015 · 221 citations · Cited by this paper
  22. Digital PCR Analysis of Maternal Plasma for Noninvasive Detection of Sickle Cell Anemia · Angela N. Barrett · 2012 · 203 citations · Cited by this paper
  23. Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends · K.C. Allen Chan · 2016 · 198 citations · Cited by this paper
  24. Differences between germline genomes of monozygotic twins · Hákon Jónsson · 2021 · 192 citations · Cited by this paper
  25. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics · On behalf of the European Society of Human Genetics · 2020 · 161 citations · Cited by this paper
  26. Fetal fraction and noninvasive prenatal testing: What clinicians need to know · Lisa Hui · 2019 · 149 citations · Cited by this paper
  27. Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature · Geerke M. Eggenhuizen · 2021 · 140 citations · Cited by this paper
  28. Prenatal Diagnosis of Sickle-Cell Anemia in the First Trimester of Pregnancy · M. Goossens · 1983 · 139 citations · Cited by this paper
  29. International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis · Ignatia B. Van den Veyver · 2022 · 134 citations · Cited by this paper
  30. Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique · Juliette Guibert · 2003 · 121 citations · Cited by this paper
  31. Effects of Maternal and Fetal Characteristics on Cell-Free Fetal DNA Fraction in Maternal Plasma · Yi Zhou · 2015 · 107 citations · Cited by this paper
  32. Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome · Mallory J. Owen · 2021 · 76 citations · Cited by this paper
  33. Trio exome sequencing is highly relevant in prenatal diagnostics · Heinz Gabriel · 2021 · 67 citations · Cited by this paper
  34. Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study · Catharina J. Heesterbeek · 2022 · 62 citations · Cited by this paper
  35. UMBILICAL-CORD INSERTION AS SOURCE OF PURE FETAL BLOOD FOR PRENATAL DIAGNOSIS · Charles H. Rodeck · 1979 · 61 citations · Cited by this paper
  36. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies · Chelsea Lowther · 2023 · 58 citations · Cited by this paper
  37. Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders · Britt Erika Hanson · 2022 · 55 citations · Cited by this paper
  38. Prenatal exome and genome sequencing for fetal structural abnormalities · Neeta L. Vora · 2022 · 53 citations · Cited by this paper
  39. The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review · Adeline Perrot · 2021 · 50 citations · Cited by this paper

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