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: 31 December 2024 | Viewed by 386

Special Issue Editor


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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

Published Papers (1 paper)

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Review

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
Viewed by 233
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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