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Medicina
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From Conception to Birth: Embryonic Development and Disease
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From Conception to Birth: Embryonic Development and Disease

A special issue of Medicina (ISSN 1648-9144).

Deadline for manuscript submissions: 1 February 2026 | Viewed by 4617

Special Issue Editors

Dr. Paschalis Theotokis

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Guest Editor
Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54655 Thessaloniki, Greece
Interests: neuroscience; multiple sclerosis; experimental autoimmune encephalomyelitis; intrathecal transplantation; stem cell differentiation; immunohistopathology; in situ hybridization; electron microscopy
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Soultana Meditskou

E-Mail Website
Guest Editor
Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54655 Thessaloniki, Greece
Interests: histology; embryology; histopathology (surgical anatomy)
Special Issues, Collections and Topics in MDPI journals
Dr. Maria Eleni Manthou

E-Mail Website
Guest Editor
Laboratory of Histology-Embryology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
Interests: histology; embryology; electron microscopy; cell cultures
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The intricate processes that occur during embryonic development are vital for the formation and functioning of organs, tissues, and systems in the human body. Any disruptions during this period can have lasting effects on an individual's health. Understanding these events is crucial not only for exploring the origins of life but also for gaining insights into various diseases and conditions that may emerge later in adulthood. This Special Issue delves into the timeline of fetal development, examining aspects of embryonic growth and its connection to health. Researchers are encouraged to submit articles exploring organogenesis, cell differentiation, genetic regulation, environmental influences, reproduction, sex determination, pregnancy, congenital anomalies, and the physiological basis of diseases. Studying this area may reveal links between early life events and disease onset, potentially informing new approaches to address health issues.

You may choose our Joint Special Issue in Biology.

Dr. Paschalis Theotokis
Prof. Dr. Soultana Meditskou
Dr. Maria Eleni Manthou
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medicina is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • embryology
  • organogenesis
  • cell differentiation
  • gametes
  • reproduction
  • sex ratio
  • birth defects
  • pathophysiology
  • disease

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Published Papers (4 papers)

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Review

23 pages, 1508 KiB  
Review
Association Between Human Embryo Culture Conditions, Cryopreservation, and the Potential Risk of Birth Defects in Children Conceived Through Assisted Reproduction Technology
by Romualdo Sciorio, Luca Tramontano, Giuseppe Gullo and Steven Fleming
Medicina 2025, 61(7), 1194; https://doi.org/10.3390/medicina61071194 - 30 Jun 2025
Viewed by 512
Abstract
Assisted reproduction technology (ART) has advanced significantly over the past four decades, leading to improved pregnancy outcomes and a reduction in complications, particularly those associated with multiple pregnancies. These improvements largely stem from advances in understanding embryonic physiology, which has enabled better culture [...] Read more.
Assisted reproduction technology (ART) has advanced significantly over the past four decades, leading to improved pregnancy outcomes and a reduction in complications, particularly those associated with multiple pregnancies. These improvements largely stem from advances in understanding embryonic physiology, which has enabled better culture conditions. As a result, embryologists can now efficiently culture embryos to the blastocyst stage and successfully cryopreserve them for future use. However, while incubators aim to replicate the maternal environment of the oviduct and uterus, embryos in vitro are cultured in static conditions, unlike the dynamic, constantly changing environment they experience in vivo. Key factors such as pH, temperature, osmolality, and gas concentrations are crucial for establishing optimal embryo development and implantation potential. Moreover, the vitrification procedure for gametes or embryos can introduce oxidative stress, as well as osmotic shock and cryoprotectant toxicity, which may affect embryo viability and increase the risk of birth defects. Since the first successful ART birth in 1978, over 10 million babies have been conceived through these techniques. Although most of these children are healthy, concerns exist about potential birth defects or changes linked to the handling of gametes and embryos. The preimplantation period is marked by significant epigenetic reprogramming, which can be influenced by ART procedures such as ovarian stimulation, in vitro fertilization, embryo culture, and cryopreservation. However, the long-term health implications for offspring remain uncertain. Epigenetic reprogramming during early embryogenesis is essential for proper embryo development and can be changed by ART-related conditions. These concerns have raised questions about the possible connection between ART and a higher risk of birth defects or other changes in children born through these methods. Therefore, we conducted a scoping review following PRISMA-ScR guidelines to map evidence on ART-related risks, including epigenetic and birth defect outcomes. Full article
(This article belongs to the Special Issue From Conception to Birth: Embryonic Development and Disease)
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26 pages, 822 KiB  
Review
Advances in Fetal Surgery: A Narrative Review of Therapeutic Interventions and Future Directions
by Antonia Varthaliti, Vasilios Pergialiotis, Marianna Theodora, Vasilios Lygizos, Maria Anastasia Daskalaki, Panos Antsaklis and George Daskalakis
Medicina 2025, 61(7), 1136; https://doi.org/10.3390/medicina61071136 - 24 Jun 2025
Viewed by 360
Abstract
Fetal surgery has emerged as a viable option for the management of selected congenital anomalies that result in severe or lethal outcomes if left untreated until birth. Conditions such as spina bifida, urinary tract obstruction, congenital cystic adenomatoid malformation, diaphragmatic hernia, sacrococcygeal teratoma, [...] Read more.
Fetal surgery has emerged as a viable option for the management of selected congenital anomalies that result in severe or lethal outcomes if left untreated until birth. Conditions such as spina bifida, urinary tract obstruction, congenital cystic adenomatoid malformation, diaphragmatic hernia, sacrococcygeal teratoma, and twin–twin transfusion syndrome have shown improved prognosis after in utero intervention, open, or fetoscopically. Despite significant advances in surgical methods and anesthesia, preterm labor remains a primary concern. Stem cell transplantation and in utero gene therapy are developing, and they have the potential to expand the treatment window, as they minimize maternal complications. Hematopoietic stem cell transplantation, which is based on the immaturity of the fetal immune system, is a promising treatment for inherited disorders. Although many procedures of fetal interventions are now established, their safety and efficacy must be ensured and this requires optimal patient selection and choice of appropriate timing for intervention, adherence to ethical principles, and continuous research. Therefore, a multidisciplinary team, including specialists in maternal–fetal medicine, pediatric surgery, anesthesiology, neonatology, psychosocial support, and bioethics, is essential to guide comprehensive, patient-centered care. Fetal surgery is an evolving field that offers hope for conditions previously considered untreatable before birth. Full article
(This article belongs to the Special Issue From Conception to Birth: Embryonic Development and Disease)
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33 pages, 1560 KiB  
Review
Neonates at Risk: Understanding the Impact of High-Risk Pregnancies on Neonatal Health
by Rozeta Sokou, Alexandra Lianou, Maria Lampridou, Polytimi Panagiotounakou, Georgios Kafalidis, Styliani Paliatsiou, Paraskevi Volaki, Andreas G. Tsantes, Theodora Boutsikou, Zoi Iliodromiti and Nicoletta Iacovidou
Medicina 2025, 61(6), 1077; https://doi.org/10.3390/medicina61061077 - 11 Jun 2025
Viewed by 2555
Abstract
High-risk pregnancies (HRPs) constitute a significant global health issue due to their strong association with increased maternal and neonatal morbidity and mortality. Although pregnancy is generally characterized by positive expectations, the presence of maternal comorbidities, gestational complications, or adverse socioeconomic and environmental conditions [...] Read more.
High-risk pregnancies (HRPs) constitute a significant global health issue due to their strong association with increased maternal and neonatal morbidity and mortality. Although pregnancy is generally characterized by positive expectations, the presence of maternal comorbidities, gestational complications, or adverse socioeconomic and environmental conditions can markedly elevate the probability of unfavorable outcomes. HRPs contribute disproportionately to complications such as preterm birth, fetal growth restriction, low birth weight, and congenital anomalies, which are key determinants of neonatal mortality and long-term developmental and health challenges. A broad spectrum of risk factors as well as insufficient prenatal care, underscores the complex nature of HRPs. These conditions necessitate a multidisciplinary management approach encompassing early risk identification, continuous monitoring, and individualized interventions. The neonatal prognosis in such contexts is strongly influenced by gestational age at delivery, birth weight, the standard of neonatal care, and the underlying etiological factors driving preterm or complicated deliveries. Preventive strategies including comprehensive prenatal screening, systematic antenatal follow-up, and timely referral to specialized perinatal care centers are essential for reducing the burden of HRPs. Furthermore, addressing social determinants of health—such as low socioeconomic status and limited access to healthcare—is critical for optimizing maternal and neonatal outcomes. This review consolidates current evidence on the epidemiology, etiological factors, and clinical implications of high-risk pregnancies, emphasizing the necessity of an integrative, preventive, and multidisciplinary framework to mitigate adverse neonatal outcomes and improve long-term health trajectories. Full article
(This article belongs to the Special Issue From Conception to Birth: Embryonic Development and Disease)
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21 pages, 859 KiB  
Review
Phospholipase Cζ, the Molecular Spark of Fertilization and Male Infertility: Insights from Bench to Bedside
by Aris Kaltsas, Maria-Anna Kyrgiafini, Zissis Mamuris, Fotios Dimitriadis, Athanasios Zachariou, Michael Chrisofos and Nikolaos Sofikitis
Medicina 2025, 61(6), 963; https://doi.org/10.3390/medicina61060963 - 23 May 2025
Viewed by 684
Abstract
Phospholipase C zeta (PLCζ) has emerged as a pivotal sperm-specific factor responsible for triggering oocyte activation, a process essential for successful fertilization and early embryogenesis. A narrative review was conducted to examine the molecular architecture and biochemical features of PLCζ, with particular emphasis [...] Read more.
Phospholipase C zeta (PLCζ) has emerged as a pivotal sperm-specific factor responsible for triggering oocyte activation, a process essential for successful fertilization and early embryogenesis. A narrative review was conducted to examine the molecular architecture and biochemical features of PLCζ, with particular emphasis on how its distinctive structural domains facilitate the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) and the induction of calcium (Ca2+) oscillations in the oocyte. Notably, PLCζ exhibits unique sensitivity to basal Ca2+ levels and the capacity to sustain repetitive intracellular Ca2+ transients that drive meiotic progression and block polyspermy. Clinically, PLCζ deficiency—whether caused by genetic mutations, reduced expression, or improper localization—represents a unifying explanation for certain forms of male infertility, including total fertilization failure (TFF) following intracytoplasmic sperm injection (ICSI). Globozoospermia is a prime example; this condition is characterized by round-headed sperm devoid of acrosomes and exhibiting significantly reduced or absent PLCζ and often results in fertilization failure. Diagnostic methods such as immunofluorescence, Western blotting, and the mouse oocyte-activation test collectively support the identification and characterization of PLCζ-related defects, while genetic testing for mutations in the PLCZ1 gene has proven valuable for identifying hereditary causes of sperm-borne oocyte-activation deficiency (OAD). Therapeutic approaches range from assisted oocyte activation (AOA) with calcium ionophores to emerging interventions that introduce functional PLCζ protein or mRNA directly into the oocyte. These advancements demonstrate the rapid translation of foundational discoveries into clinically actionable interventions. Future investigations are poised to refine diagnostic assays, standardize measurement protocols, and explore the potential of gene therapy or CRISPR/Cas9-mediated correction for heritable PLCζ abnormalities. By addressing both the molecular basis and translational applications of PLCζ, recent findings underscore its indispensable role in fertility care and lay out a path toward further innovation in assisted reproductive technologies. Full article
(This article belongs to the Special Issue From Conception to Birth: Embryonic Development and Disease)
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