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Diagnostics
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Insights into Perinatal Medicine and Fetal Medicine—2nd Edition
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Insights into Perinatal Medicine and Fetal Medicine—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 March 2026 | Viewed by 1631

Special Issue Editors

Dr. Paola Quaresima

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, Azienda Sanitaria Provinciale di Cosenza, 87100 Cosenza, Italy
Interests: perinatal medicine; fetal medicine
Special Issues, Collections and Topics in MDPI journals
Dr. Ilaria Fantasia

E-Mail Website
Guest Editor
Obstetrics & Gynaecology Unit, San Salvatore Hospital, 67100 L’ Aquila, Italy
Interests: perinatal medicine; fetal medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Fetal and perinatal medicine are branches of obstetrics and gynecology focusing on managing complications in the mother and fetus before, during, and immediately after birth. It is a broad field that pertains to pregnant women, fetuses, or both as a single entity, in which complications in one can impact the other.

In recent years, advances in research and technology have allowed for significant improvements in perinatal care, ranging from the early screening of fetal and maternal complications, such as fetal aneuploidies and pre-eclampsia, to the in utero treatment of fetal complications through minimally invasive approaches, such as the laser coagulation of placental anastomosis in monochorionic twin pregnancies, or antenatal spinal defect treatment. Therefore, it is essential to establish a multidisciplinary approach based on collaboration between fetal medicine specialists, geneticists, and pediatric surgeons.

Furthermore, the rate of advanced maternal age, the use of assisted reproduction techniques, and overweight/obesity among women has increased the number of high-risk pregnancies, with implications for both the fetus and mother, such as fetal growth restriction, gestational diabetes, and hypertensive disorders of pregnancy.

The aim of this Special Issue is to gather Randomized Controlled Trials (RCTs), reviews, meta-analyses, cohort studies, and case reports presenting relevant scientific information in the field of perinatal and fetal medicine, with the aim of supporting clinicians in the daily management of maternal–fetal complications.

This Special Issue will include topics such as (but not limited to) the following:

  • First-trimester screening for fetal aneuploidies (combined test, cell-free DNA test);
  • Increased nuchal translucency and its genetic implications;
  • First-trimester screening for pre-eclampsia;
  • Fetal malformations;
  • Hypertensive disorders of pregnancy;
  • Gestational diabetes;
  • Fetal growth;
  • In utero surgery.

Dr. Paola Quaresima
Dr. Ilaria Fantasia
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. 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

  • fetal malformations
  • hypertensive disorders of pregnancy
  • gestational diabetes
  • fetal growth
  • in utero surgery
  • first-trimester screening
  • fetal aneuploidies

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

Published Papers (4 papers)

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Research

14 pages, 1694 KB  
Article
The Impacts of Enlarged Subarachnoid Space on Brain Growth and Cortex Maturation in Very Preterm Infants
by Liangbing Wang, Yubo Zhuo, Fang Lin, Xueqing Wan, Guohui Yang and Jianlong He
Diagnostics 2025, 15(17), 2206; https://doi.org/10.3390/diagnostics15172206 (registering DOI) - 30 Aug 2025
Abstract
Objectives: The aim of this study is to investigate the changes in quantitative indices of brain volume and cortex development in preterm infants with enlarged subarachnoid space (ESS). Methods: A single-center retrospective cohort study was performed in Hong Kong University–Shenzhen Hospital from November [...] Read more.
Objectives: The aim of this study is to investigate the changes in quantitative indices of brain volume and cortex development in preterm infants with enlarged subarachnoid space (ESS). Methods: A single-center retrospective cohort study was performed in Hong Kong University–Shenzhen Hospital from November 2014 to November 2023, involving 200 preterm infants whose brain MRI images were available. Parameters including the volume of cerebrospinal fluid (CSF), brain tissues, total intracranial cavity (ICC), and key indices of cortex maturation (surface area, cortical thickness, cortical volume, mean curvature) were compared between the groups with ESS and without ESS. The retrospective nature of this study may introduce selection bias in the process of enrolling preterm infants with ESS. Results: The groups with severe and mild ESS had a significantly greater ICC volume than the group without ESS (severe: 384.66 ± 30.33 [p < 0.001]; mild: 374.25 ± 26.45 [p < 0.001] vs. no ESS: 356.78 ± 26.03), and the difference was mostly due to the gap in extra-CSF volume among the three groups (severe: 74.20 ± 5.1 and mild: 55.36 ± 3.8 vs. no ESS: 40.54 ± 4.3, p ≤ 0.001). Only the volume of parenchyma of the severe-ESS group was significantly different (severe: 302.35 ± 26.43 vs. no ESS: 312.27 ± 20.75, p = 0.003). Regarding indices of cortex maturation, only the mean curvature showed a significant difference between the three groups, and most of the significant clusters were located around the parietal and temporal lobes. Conclusions: ESS may be associated with impaired early brain maturation in preterm infants after birth. A further neurodevelopmental follow-up study is needed. Full article
(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine—2nd Edition)
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12 pages, 226 KB  
Article
Inflammatory Markers and Genetic Variants in Gestational Diabetes and Pregnancy Complications: A Cross-Sectional Study
by Jelena Omazić, Andrijana Muller, Mirta Kadivnik, Kristina Kralik, Domagoj Vidosavljević and Jasenka Wagner
Diagnostics 2025, 15(17), 2153; https://doi.org/10.3390/diagnostics15172153 - 26 Aug 2025
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Abstract
Background/Objectives: Gestational diabetes (GD) is a common pregnancy complication linked to inflammation. Obesity, a major risk factor, is associated with elevated pro-inflammatory markers (TNF-α, IL-6) and reduced anti-inflammatory IL-10 and adiponectin. This study investigated the role of inflammatory factors (IL-6, TNF-α, IL-10, [...] Read more.
Background/Objectives: Gestational diabetes (GD) is a common pregnancy complication linked to inflammation. Obesity, a major risk factor, is associated with elevated pro-inflammatory markers (TNF-α, IL-6) and reduced anti-inflammatory IL-10 and adiponectin. This study investigated the role of inflammatory factors (IL-6, TNF-α, IL-10, adiponectin) and their genetic variants (rs1800629, rs1800796, rs1800896, rs266729) in a unique four-group study design of pregnant women. Methods: We collected venous blood from 162 women in the third trimester of pregnancy. We measured IL-6, IL-10, TNF-α, and adiponectin levels and performed real-time PCR genotyping for the selected SNPs. Results: IL-6 levels were significantly higher (p < 0.001) in pregnant women with GD and additional complications. The IL-6 SNP rs1800796 heterozygous CG genotype showed a slightly increased GD risk (OR = 1.41). However, we found no significant associations between GD and TNF-α rs1800629 or IL-10 rs1800896 SNPs. The AdipoQ rs266729 homozygous CC genotype was linked to increased GD risk (p = 0.03 for superdominant model). Importantly, no significant correlations were observed between inflammatory marker levels and gene variants within any study group. Conclusions: Our findings suggest a greater inflammatory burden in GD pregnancies with additional complications. While certain IL-6 and AdipoQ variants might contribute to GD risk, the overall weak association between inflammatory markers and gene variants likely reflects the complex polygenic nature of GD, environmental factors, or the study’s sample size. Full article
(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine—2nd Edition)
10 pages, 1258 KB  
Article
Color Doppler Patterns’ Recognition Indicative of Congenital Heart Defects at the First-Trimester Referral Scan
by Valentina De Robertis, Mariachiara Bosco, Ilaria Fantasia, Claudiana Olivieri, Tiziana Fanelli and Paolo Volpe
Diagnostics 2025, 15(16), 2088; https://doi.org/10.3390/diagnostics15162088 - 20 Aug 2025
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Abstract
Background/Objectives: First-trimester referral scans in high-risk pregnancies are performed by expert fetal medicine operators using an extended protocol that includes direct fetal heart assessment. This study evaluated inter-operator agreement in characterizing the four-chamber view (4CV) and three vessels and trachea view (3VTV) [...] Read more.
Background/Objectives: First-trimester referral scans in high-risk pregnancies are performed by expert fetal medicine operators using an extended protocol that includes direct fetal heart assessment. This study evaluated inter-operator agreement in characterizing the four-chamber view (4CV) and three vessels and trachea view (3VTV) using color Doppler during such scans in both normal and abnormal cases. Methods: Two independent operators and a fetal cardiologist, all blinded to final diagnoses, retrospectively reviewed 2D images and video clips of the 4CV and 3VTV in 90 fetuses (45 with congenital heart disease [CHD] and 45 controls). The 4CV was classified into four patterns: (1) two atrioventricular (A-V) inflows of similar size, (2) one A-V inflow filling two ventricles, (3) one A-V inflow filling one ventricle, and (4) two A-V inflows with disproportion. The 3VTV was assessed for (1) normal V-sign, (2) abnormal vessel number, (3) abnormal vessel dimension, (4) abnormal spatial relationships, and (5) ductal dependence. Agreement was measured using Cohen’s Kappa. Results: Perfect agreement (K = 1) was seen in normal cases. In CHD cases, inter-operator and operator–cardiologist agreement was almost perfect for 4CV (K = 0.83–0.96) and substantial for 3VTV (K = 0.77–0.80). The lowest agreement occurred with ventricular disproportion in 4CV and abnormalities in vessel number and size in 3VTV. Conclusions: Expert operators show strong agreement in interpreting 4CV and 3VTV patterns in first-trimester scans using color Doppler. However, certain abnormalities—particularly ventricular disproportion and vessel anomalies—remain challenging to consistently interpret. Full article
(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine—2nd Edition)
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10 pages, 388 KB  
Article
Evaluating the Predictive Value of HOMA-IR in Gestational Diabetes: A Case–Control Study from Romania
by Ait el Haj Iman, Cristina Onel, Gheorghe Furau, Cristian Furau, Roxana Furau, Mihai Lucan, Mircea Sandor, Liliana Sachelarie and Anca Huniadi
Diagnostics 2025, 15(13), 1704; https://doi.org/10.3390/diagnostics15131704 - 3 Jul 2025
Viewed by 846
Abstract
Background/Objectives: Gestational diabetes mellitus (GDM) is a common metabolic disorder during pregnancy, associated with increased risks for both maternal and fetal complications. Insulin resistance plays a central role in its pathophysiology. This study aimed to evaluate the predictive value of the Homeostatic Model [...] Read more.
Background/Objectives: Gestational diabetes mellitus (GDM) is a common metabolic disorder during pregnancy, associated with increased risks for both maternal and fetal complications. Insulin resistance plays a central role in its pathophysiology. This study aimed to evaluate the predictive value of the Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) in diagnosing GDM and to explore its correlation with clinical and anthropometric parameters in a Romanian population. Methods: A retrospective case–control study was conducted on 320 pregnant women between 24 and 28 weeks of gestation. Based on ADA criteria, participants were divided into 160 with GDM and 160 controls, matched by age and gestational week. Fasting glucose, insulin, BMI, and blood pressure were assessed. HOMA-IR and HOMA-β were calculated. Statistical analyses included t-tests, Pearson correlation, and logistic regression. Results: HOMA-IR was significantly higher in the GDM group (2.9 vs. 1.8; p < 0.001). It correlated with fasting insulin (r = 0.85, p < 0.001), fasting glucose (r = 0.65, p < 0.001), BMI (r = 0.60, p < 0.001), and systolic blood pressure (r = 0.42, p < 0.001). Logistic regression identified HOMA-IR as an independent predictor of GDM (OR = 2.4, 95% CI: 1.6–3.5, p < 0.001), along with BMI (p = 0.01) and maternal age (p = 0.05). Conclusions: HOMA-IR is significantly associated with GDM and may enhance mid-gestational risk assessment when combined with clinical and anthropometric measures. Further studies are needed to validate its predictive accuracy in broader populations. Full article
(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine—2nd Edition)
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