Game-Changing Concepts in Reproductive Health

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 31 August 2026 | Viewed by 665

Special Issue Editors


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Guest Editor
Lancaster Maternal Fetal Medicine, Lancaster PA and School of Pharmaceutical Sciences College of Pharmacy, University of Michigan, Ann Arbor, MI 48109, USA
Interests: CVS; fetal reduction; prenatal diagnosis; amniocentesis; ultrasound; nuchal translucency screening; fetal therapy

E-Mail Website
Guest Editor
Lancaster Maternal Fetal Medicine, Lancaster PA and School of Pharmaceutical Sciences College of Pharmacy, University of Michigan, Ann Arbor, MI 48109, USA
Interests: obstetrics; gynecology; maternal and fetal medicine

Special Issue Information

Dear Colleagues,

The published research juggernaut is largely occupied by relatively incremental studies building upon an existing foundation which flood the literature and only advance the field in small increments. Such studies often predominate for several years. Periodically, however, there are game-changing discoveries that advance our understanding onto a new playing field, often with new rules, and which force everyone to think differently to how they did the day before. It is these sentinel discoveries that make careers and can have highly leveraged implications for both individual patients and public health. In women’s reproductive medicine, the logarithmic growth of molecular techniques and accompanying bioinformatics has translated into rapid changes in our appreciation of fetal, neonatal, childhood, and adult diagnoses and set the stage for new therapies. This Special Issue seeks research articles and reviews exploring such game-changing discoveries and how they are presented, argued, resisted, and ultimately translated and implemented into actual patient care.

Prof. Dr. Mark I. Evans
Dr. Christian R. Macedonia
Guest Editors

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Keywords

  • pregnancy
  • artificial intelligence
  • prenatal diagnosis
  • genetic sequencing
  • diagnostic tests
  • screening tests
  • public policy
  • electronic fetal monitoring
  • introducing new technologies

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Published Papers (2 papers)

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Review

19 pages, 846 KB  
Review
Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications
by Mona M. Makhamreh, Mei Ling Chong and Ignatia B. Van den Veyver
Diagnostics 2025, 15(20), 2579; https://doi.org/10.3390/diagnostics15202579 - 13 Oct 2025
Abstract
Advancements in genomic technologies have transformed prenatal genetic testing, offering more accurate, comprehensive, and noninvasive approaches to reproductive care. This review provides an in-depth overview of current methodologies and emerging innovations, including expanded carrier screening (ECS), cell-free DNA (cfDNA) testing, chromosomal microarray analysis [...] Read more.
Advancements in genomic technologies have transformed prenatal genetic testing, offering more accurate, comprehensive, and noninvasive approaches to reproductive care. This review provides an in-depth overview of current methodologies and emerging innovations, including expanded carrier screening (ECS), cell-free DNA (cfDNA) testing, chromosomal microarray analysis (CMA), and sequencing-based diagnostics. We highlight how next-generation sequencing (NGS) technologies have revolutionized carrier screening and fetal genome analysis, enabling detection of a broad spectrum of genetic conditions. The clinical implementation of cfDNA has expanded from common aneuploidies to include copy number variants (CNVs), and single-gene disorders. Diagnostic testing has similarly evolved, with genome sequencing outperforming traditional CMA and exome sequencing through its ability to detect both sequence and structural variants in a single assay. Emerging tools such as optical genome mapping, RNA sequencing, and long-read sequencing further enhance diagnostic yield and variant interpretation. This review summarizes major technological advancements, assesses their clinical utility and limitations, and outlines future directions in prenatal genomics. Full article
(This article belongs to the Special Issue Game-Changing Concepts in Reproductive Health)
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19 pages, 3282 KB  
Review
Generational Leaps in Intrapartum Fetal Surveillance
by Lawrence D. Devoe
Diagnostics 2025, 15(19), 2482; https://doi.org/10.3390/diagnostics15192482 - 28 Sep 2025
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Abstract
Background/Objectives: Electronic fetal monitoring (EFM) has been used for intrapartum fetal surveillance for over 50 years. Despite numerous trials comparing EFM with standard fetal heart rate (FHR) auscultation, it remains contentious whether continuous monitoring with standard interpretation has reliably improved perinatal outcomes, specifically [...] Read more.
Background/Objectives: Electronic fetal monitoring (EFM) has been used for intrapartum fetal surveillance for over 50 years. Despite numerous trials comparing EFM with standard fetal heart rate (FHR) auscultation, it remains contentious whether continuous monitoring with standard interpretation has reliably improved perinatal outcomes, specifically lower rates of perinatal morbidity and mortality. This review examines previous attempts to improve fetal monitoring and presents future directions for novel intrapartum fetal surveillance systems. Methods: We conducted a chronological review of EFM developments, including ancillary methods such as fetal ECG analysis, automated systems for FHR analysis, and artificial intelligence applications. We analyzed the evolution from visual interpretation to intelligent systems and evaluated the performance of various automated monitoring platforms. Results: Various ancillary methods developed to improve EFM accuracy for predicting fetal compromise have shown limited success. Only a limited number of studies demonstrated that adding fetal ECG analysis to visual FHR pattern interpretation resulted in better fetal outcomes. Automated systems for FHR analysis have not consistently enhanced intrapartum fetal surveillance. However, novel approaches such as the Fetal Reserve Index (FRI) show promise by incorporating clinical risk factors with traditional FHR patterns to provide higher-level risk assessment and prognosis. Conclusions: The shortcomings of visual interpretation of FHR patterns persist despite technological advances. Future intelligent intrapartum surveillance systems must combine conventional fetal monitoring with comprehensive risk assessment that incorporates maternal, fetal, and obstetric factors. The integration of artificial intelligence with contextualized metrics like the FRI represents the most promising direction for improving intrapartum fetal surveillance and clinical outcomes. Full article
(This article belongs to the Special Issue Game-Changing Concepts in Reproductive Health)
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