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Diagnostics
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Advances in Fetal Diagnosis and Therapy
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Advances in Fetal Diagnosis and Therapy

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Medical Imaging and Theranostics".

Deadline for manuscript submissions: 30 June 2025 | Viewed by 5589

Special Issue Editor

Dr. Elisa Montaguti

E-Mail Website
Guest Editor
Azienda Ospedaliero-Universitaria di Bologna, Policlinico S. Orsola-Malpighidisabled, Bologna, Italy
Interests: ultrasound; prenatal diagnosis; NIPT; fetal echocardiography; fetal therapy; fetal MRI

Special Issue Information

Dear Colleagues,

In recent years, the field of fetal diagnosis and treatment has witnessed remarkable advancements, driven by rapid advancements in medical technology.

Non-invasive prenatal diagnosis has garnered significant attention, allowing for the accurate detection of fetal chromosomal abnormalities and genetic mutations through the analysis of fetal cell-free DNA extracted from the mother's peripheral blood. Additionally, four-dimensional ultrasound technology has been widely adopted for screening fetal structural abnormalities, offering high resolution and stereoscopic imaging capabilities that enhance diagnostic accuracy.

The progress in fetal diagnosis and treatment has been facilitated by interdisciplinary collaboration and clinical research. Close cooperation among obstetrics, pediatrics, genetics, radiology, and other disciplines has jointly propelled the development of fetal diagnosis and treatment techniques. Simultaneously, extensive clinical studies have provided robust evidence supporting the safety and effectiveness of these novel techniques. These studies have not only enriched our understanding of fetal diseases but also provided valuable experiences for future clinical practice.

While significant progress has been made in the field of fetal diagnosis and treatment, numerous challenges remain. For instance, the widespread adoption and implementation of new techniques require further clinical practice and validation. Looking ahead, with continued advancements in technology, we anticipate further breakthroughs and innovations in the field of fetal diagnosis and treatment.

This Special Issue aims to improve our knowledge of the latest progress in fetal diagnosis and treatment, providing valuable insights for medical professionals and researchers. In this Special Issue, original research articles and reviews are welcome.

Dr. Elisa Montaguti
Guest Editor

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. Diagnostics is an international peer-reviewed open access semimonthly 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 2600 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

  • ultrasound
  • prenatal diagnosis
  • NIPT
  • fetal echocardiography
  • fetal therapy
  • fetal MRI

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

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9 pages, 4580 KiB  
Article
The Role of Prenatal Ultrasound Examination in Predicting the Outcomes of Ovarian Fetal Cysts: A Pictorial Essay
by Elisa Montaguti, Benedetta Petrachi, Marta Fiorentini, Viola Arosio, Sara Doroldi, Camilla Dionisi, Vito Bernardi and Gianluigi Pilu
Diagnostics 2024, 14(23), 2726; https://doi.org/10.3390/diagnostics14232726 - 4 Dec 2024
Viewed by 1281
Abstract
Objectives: The aim of this study was to evaluate prenatal ultrasound features, fetal postnatal outcomes, and the need for postnatal surgery in the suspicion of ovarian torsion. Methods: We included patients with a singleton pregnancy with a suspicion of ovarian fetal cyst referred [...] Read more.
Objectives: The aim of this study was to evaluate prenatal ultrasound features, fetal postnatal outcomes, and the need for postnatal surgery in the suspicion of ovarian torsion. Methods: We included patients with a singleton pregnancy with a suspicion of ovarian fetal cyst referred to our center. Data derived from prenatal ultrasound evaluations, delivery, and postnatal follow-up were then extracted from the hospital registers. Results: The ultrasound features of 32 fetal ovarian cysts and related neonatal outcomes were analyzed. The mean gestational age at diagnosis was 32 weeks (28–36), while the mean diameter of the cyst diagnosis was 34.8 ± 13.2 mm. In 78.1% of cases, the cysts did not change their characteristics during pregnancy, while in 9.4%, they increased their dimensions, and in 12.5%, they reduced their size. In 78.1% of cases, the diagnosis was confirmed postnatally, and in 40% of cases, a spontaneous regression occurred during follow-up. Surgery was performed in 60% of cases, and most of the time (66.7%), an adnexectomy was required. Conclusions: An unfavorable outcome was associated with cystic dimensions and ultrasound feature modifications during pregnancy. However, our study demonstrated that a hemorrhagic content is not always indicative of adnexal torsion, and spontaneous resolution may occur. In addition, only a few of the simple anechoic cysts managed surgically presented with necrosis at histopathological examination; therefore, a conservative approach might be proposed in those cases. Full article
(This article belongs to the Special Issue Advances in Fetal Diagnosis and Therapy)
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Review

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15 pages, 229 KiB  
Review
Fetal Safety in MRI During Pregnancy: A Comprehensive Review
by Gal Puris, Angela Chetrit and Eldad Katorza
Diagnostics 2025, 15(2), 208; https://doi.org/10.3390/diagnostics15020208 - 17 Jan 2025
Viewed by 1621
Abstract
As medical imaging continues to expand, concerns about the potential risks of ionizing radiation to the developing fetus have led to a preference for non-radiation-based alternatives such as ultrasonography and fetal MRI. This review examines the current evidence on the safety of MRI [...] Read more.
As medical imaging continues to expand, concerns about the potential risks of ionizing radiation to the developing fetus have led to a preference for non-radiation-based alternatives such as ultrasonography and fetal MRI. This review examines the current evidence on the safety of MRI during pregnancy, with a focus on 3 T MRI and contrast agents, aiming to provide a comprehensive synthesis that informs clinical decision-making, ensures fetal safety and supports the safe use of all available modalities that could impact management. We conducted a comprehensive review of studies from 2000 to 2024 on MRI safety during pregnancy, focusing on 3 T MRI and gadolinium use. The review included peer-reviewed articles and large database studies, summarizing key findings and identifying areas for further research. Fetal MRI, used alongside ultrasound, enhances diagnostic accuracy for fetal anomalies, particularly in the brain, thorax, gastrointestinal and genitourinary systems, with no conclusive evidence of adverse effects on fetal development. While theoretical risks such as tissue heating and acoustic damage exist, studies show no significant harm at 1.5 T or 3 T, though caution is still advised in the first trimester. Regarding gadolinium-based contrast agents, the evidence is conflicting: while some studies suggest risks such as stillbirth and rheumatological conditions, animal studies show minimal fetal retention and no significant toxicity, and later clinical research has not substantiated these risks. The existing literature on fetal MRI is encouraging, suggesting minimal risks; however, further investigation through larger, prospective and long-term follow-up studies is essential to comprehensively determine its safety and late effects. Full article
(This article belongs to the Special Issue Advances in Fetal Diagnosis and Therapy)
14 pages, 736 KiB  
Review
Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome
by Valentin Nicolae Varlas, Dragos Epistatu and Roxana Georgiana Varlas
Diagnostics 2024, 14(14), 1480; https://doi.org/10.3390/diagnostics14141480 - 10 Jul 2024
Cited by 1 | Viewed by 2007
Abstract
Apert syndrome is an inherited condition with autosomal dominant transmission. It is also known as acrocephalosyndactyly type I, being characterized by a syndrome of craniosynostosis with abnormal head shape, facial anomalies (median hypoplasia), and limb deformities (syndactyly, rhizomelic shortening). The association can suspect [...] Read more.
Apert syndrome is an inherited condition with autosomal dominant transmission. It is also known as acrocephalosyndactyly type I, being characterized by a syndrome of craniosynostosis with abnormal head shape, facial anomalies (median hypoplasia), and limb deformities (syndactyly, rhizomelic shortening). The association can suspect the prenatal diagnosis of these types of anomalies. The methodology consisted of revising the literature, by searching the PubMed/Medline database in which 27 articles were selected and analyzed, comprising 32 cases regarding the prenatal diagnosis of Apert syndrome. A series of ultrasound parameters, the anatomopathological abnormalities found, the obstetric results, and the genetic tests were followed. The distribution of imaging results (US, MRI) identified in the analyzed cases was as follows: skull-shaped abnormalities were evident in 96.8% of cases, facial abnormalities (hypertelorism 43.7%, midface hypoplasia 25%, proptosis 21.8%), syndactyly in 87.5%, and cardiovascular abnormalities in 9.3%. The anomalies detected by the ultrasound examination of the fetus were confirmed postnatally by clinical or gross evaluation or imaging. The management of these cases requires an early diagnosis, an evaluation of the severity of the cases, and appropriate parental counseling. Full article
(This article belongs to the Special Issue Advances in Fetal Diagnosis and Therapy)
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