Advances in Fetal Diagnosis and Therapy: 2nd Edition

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

Deadline for manuscript submissions: 31 December 2026 | Viewed by 1090

Editors


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Guest Editor
Obstetric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Massarenti 13, 40138 Bologna, Italy
Interests: ultrasound; prenatal diagnosis; NIPT; fetal echocardiography; fetal therapy; fetal MRI
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Guest Editor Assistant
Obstetric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Massarenti 13, 40138 Bologna, Italy
Interests: fetal diagnosis; fetal treatment; fetal infections; echocardiography

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, new techniques require further clinical practice and validation prior to their widespread adoption and implementation. 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

Dr. Camilla Dionisi
Guest Editor Assistant

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Keywords

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

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Published Papers (1 paper)

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17 pages, 1184 KB  
Systematic Review
Association Between Increased Nuchal Translucency and Foetal CNS Abnormalities in Euploid Foetuses: Systematic Review and Meta-Analysis
by Giula Mackina, Belen M. Ricci, Mirjam Moser, Christos Chatzakis, Kypros H. Nicolaides and Anastasija Arechvo
Diagnostics 2026, 16(9), 1250; https://doi.org/10.3390/diagnostics16091250 - 22 Apr 2026
Viewed by 672
Abstract
Objective: Increased nuchal translucency (NT) thickness at 10–14 weeks’ gestation is a well-established marker of chromosomal abnormalities, foetal structural defects, genetic syndromes, and foetal death; however, its association with foetal central nervous system (CNS) abnormalities has not been systematically evaluated. This study aimed [...] Read more.
Objective: Increased nuchal translucency (NT) thickness at 10–14 weeks’ gestation is a well-established marker of chromosomal abnormalities, foetal structural defects, genetic syndromes, and foetal death; however, its association with foetal central nervous system (CNS) abnormalities has not been systematically evaluated. This study aimed to review and synthesise existing evidence on the relationship between first-trimester increased NT and prenatal ultrasound–detected foetal CNS abnormalities. Methods: A systematic literature search of MEDLINE, Embase, and CINAHL was conducted in accordance with PRISMA guidelines and registered in PROSPERO. Studies reporting increased NT in singleton pregnancies and structural abnormalities of the foetal CNS identified on prenatal ultrasound were included. Study selection, data extraction, and quality assessment were performed independently by two reviewers. Results: Twenty-three studies, including 15,592 euploid pregnancies with increased NT, met the inclusion criteria. Definitions of increased NT varied across studies, most commonly >95th centile or ≥3.5 mm. The pooled prevalence of CNS anomalies was 1.16% (95% CI 0.68–1.95; I2 = 80%). In three comparative studies including 6040 pregnancies with increased NT and 152,682 with normal NT, increased NT was associated with higher odds of CNS anomalies (OR 3.22, 95% CI 1.52–6.80; I2 = 74.1%). Conclusions: These findings suggest that euploid foetuses with increased NT may have a higher risk of CNS abnormalities. Full article
(This article belongs to the Special Issue Advances in Fetal Diagnosis and Therapy: 2nd Edition)
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