Recent Advances in Prenatal Diagnosis and Clinical Management

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

Deadline for manuscript submissions: closed (31 December 2025) | Viewed by 2622

Special Issue Editor


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Twin Pregnancy Unit, Gynecology and Obstetrics 2U, A.O.U. Città della Salute e della Scienza, Sant’Anna Hospital, University of Turin, 10126 Turin, Italy
Interests: multiple pregnancy; ultrasound; prenatal diagnosis; pregnancy complications; high-risk pregnancy
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Special Issue Information

Dear Colleagues,

This Special Issue, on advances in prenatal diagnosis, spotlights pivotal innovations in diagnostic technologies and methodologies revolutionizing early fetal health assessment. By integrating non-invasive prenatal testing (NIPT) enhancements (e.g., cfDNA methylation profiling, low-coverage whole-genome sequencing), advanced fetal imaging (AI-driven ultrasound automation, MRI-based volumetric anomaly detection), and multi-omics biomarkers (proteomic, metabolomic, and epigenomic signatures), the collection elevates the detection sensitivity and specificity for chromosomal abnormalities (e.g., aneuploidies, microdeletions), monogenic disorders, structural malformations, and placental dysfunction.  Through rigorous evaluation of diagnostic accuracy, cost-effectiveness, and scalability, this Special Issue provides clinicians, geneticists, and public health practitioners with actionable evidence to streamline prenatal screening pathways, minimize diagnostic ambiguity, and align genetic information with culturally sensitive, family-centered care.

Dr. Silvana Arduino
Guest Editor

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Keywords

  • ultrasound
  • prenatal diagnosis
  • intrauterine fetal growth restriction
  • monochorionic twins
  • perinatal morbidity
  • maternal complications

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Published Papers (1 paper)

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Research

12 pages, 354 KB  
Article
Management of Monochorionic Twin Pregnancies Complicated by Selective Fetal Growth Restriction: Retrospective Single-Center 12-Year Experience
by Sofia Roero, Silvana Arduino, Agata Ingala, Carlotta Bossotti, Isabella Ferrando, Miriam Folino Gallo, Chiara Peila, Alessandra Coscia and Alberto Revelli
Diagnostics 2025, 15(20), 2653; https://doi.org/10.3390/diagnostics15202653 - 21 Oct 2025
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Abstract
Objectives: To describe the perinatal outcomes of a series of monochorionic diamniotic (MCDA) twin pregnancies complicated by selective fetal growth restriction (sFGR), classified according to the umbilical artery (UA) Doppler flow pattern of the smaller twin, and managed in a single centre over [...] Read more.
Objectives: To describe the perinatal outcomes of a series of monochorionic diamniotic (MCDA) twin pregnancies complicated by selective fetal growth restriction (sFGR), classified according to the umbilical artery (UA) Doppler flow pattern of the smaller twin, and managed in a single centre over a 12-year period. Methods: Retrospective cohort study involving MCDA twin pregnancies followed up at the Twin Pregnancy Care Unit of Sant’Anna Hospital, Turin, Italy, between January 2010 and May 2023. We compared perinatal outcomes of MCDA pregnancies classified based on the UA Doppler flow pattern of the smaller twin. Results: The percentage of sFGR in our sample was 14.8%. A total of 103 MCDA pregnancies with sFGR were included. In 34.9% cases, the UA flow pattern changed throughout pregnancy. At last examination, 58.3% cases were classified as type I, 25.2% as type II and 16.5% as type III. The perinatal survival rate of both twins in type I and III was 100%, in type II 88.5%. Type II sFGR had the highest perinatal mortality rate (7.7%). Type III twins were more likely to have malformations compared to type II and type I; compared to type I sFGR babies, they were more likely to develop RDS and to be admitted to NICU, where the length of stay was longer. Conclusions: Although the UA flow pattern correlates with perinatal outcome, it can change throughout pregnancy. Type III sFGR may have lower risk of fetal demise than traditionally thought. The main challenge remains finding the optimal balance between adverse outcomes and premature birth. Full article
(This article belongs to the Special Issue Recent Advances in Prenatal Diagnosis and Clinical Management)
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