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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (28 February 2026) | Viewed by 15116

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Special Issue Editor

Dr. Elisa Bevilacqua

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Guest Editor

Department of Women, Children, and Public Health Sciences, IRCCS Agostino Gemelli University Polyclinic Foundation, Catholic University of the Sacred Heart, Rome, Italy
Interests: prenatal diagnostics; fetal medicine; twin pregnancy

Special Issue Information

Dear Colleagues,

Maternal–fetal medicine has been a discipline since 1960 and it is one of the most rapidly evolving fields in medicine, especially in regard to the fetus. In this context, twin pregnancies represent a fascinating challenge in daily obstetric practice.

Antenatal fetal assessment, maternal assessment, the management of labor, and the postnatal follow-up of newborns represent major topics in this field. This Special Issue is dedicated to the study of pregnant women with chronic conditions, women at risk for pregnancy-related complications, and women with at-risk fetuses.

I am pleased to invite you to submit your works to advance the management of perinatal medicine. We welcome a diverse range of contributions, including reviews, original research articles, case reports, interesting images, and guidelines, all aiming to advance our understanding of perinatal medicine.

I look forward to receiving your contributions.

Dr. Elisa Bevilacqua
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 250 words) can be sent to the Editorial Office for assessment.

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

high risk pregnancy
twin pregnancy
maternal–fetal medicine
prenatal diagnosis

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Published Papers (6 papers)

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Research

Jump to: Review

11 pages, 702 KB

Open AccessArticle

The Role of Hemogram-Derived Inflammation Indices for the Prediction of Nausea and Vomiting in Pregnancy and the Need for Hospitalization

by Belgin Savran Üçok, Murat Levent Dereli, Sadun Sucu, Sadullah Özkan, Dilara Kurt, Ahmet Kurt, Fahri Burçin Fıratlıgil, Kadriye Yakut Yücel, Şevki Çelen and Ali Turhan Çağlar

Diagnostics 2026, 16(5), 669; https://doi.org/10.3390/diagnostics16050669 - 26 Feb 2026

Viewed by 466

Abstract

Objective: To investigate the association between inflammatory indices derived from complete blood count, including the systemic immune-inflammation index (SII), systemic inflammatory response index (SIRI), and pan-immune inflammation value (PIV), in predicting nausea and vomiting in pregnancy (NVP). Methods: Women diagnosed and treated for NVP at a tertiary care hospital between 2016 and 2021 were retrospectively analyzed. A total of 278 eligible patients with NVP and 278 gestational age-matched healthy pregnant women were included. Patients with NVP were categorized as having mild (n = 58), moderate (n = 140), or severe NVP (n = 80). Patients with moderate and severe NVP, who almost always required hospitalization, were grouped together and assigned to the inpatient treatment group. The groups were then compared. Results: SII and PIV were significantly higher in the NVP group than in the control group (p < 0.001 for both). In addition to SIRI, SII and PIV were also significantly higher in both the moderate NVP and HG groups compared to the mild NVP group (p = 0.017, 0.040, and 0.038, respectively, and p = 0.003, 0.009, and 0.006, respectively). SII, with a cut-off value of >966 × 10³/μL (63.67% sensitivity, 68.35% specificity), showed the best discriminatory performance for predicting NVP (p < 0.001), but there was no significant difference among SII, SIRI, and PIV in predicting the need for hospitalization. Conclusions: Our results show that there may be an association between high SII and PIV and an increased risk of developing NVP. In the future, after sufficient research, among these complete blood count-based inflammatory indices, SII may become an important component of regression models used as a screening tool to predict NVP, particularly in cases requiring inpatient care. Full article

(This article belongs to the Special Issue Maternal–Fetal and Neonatal Diagnostics)

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10 pages, 219 KB

Open AccessArticle

Thyroid-Stimulating Hormone and Free Thyroxine Levels at Labor Admission: Associations with Obstetric and Neonatal Outcomes in Term Pregnancies

by Karolin Ohanoglu Cetinel, Yıldız Karademir, Turan Arda Demirag, Bugra Tunc, Osman Murat Guler and Alperen İnce

Diagnostics 2026, 16(4), 595; https://doi.org/10.3390/diagnostics16040595 - 17 Feb 2026

Cited by 1 | Viewed by 562

Abstract

Background: Maternal thyroid hormones are essential for fetal development and the maintenance of pregnancy. While thyroid dysfunction earlier in gestation has been extensively studied, the clinical relevance of thyroid function assessed at labor admission remains unclear. This study investigated the association between maternal thyroid function parameters measured at labor ward admission and obstetric and neonatal outcomes in term pregnancies. Methods: In this retrospective observational study, 664 women with singleton term pregnancies (≥37 weeks) admitted to the labor ward of a tertiary referral center were included. Maternal thyroid-stimulating hormone (TSH), free thyroxine (FT4), and admission complete blood count parameters (hemoglobin, hematocrit, white blood cell count, and platelet count) were recorded. Obstetric and neonatal outcomes were compared across FT4 tertiles using univariable and multivariable regression analyses adjusted for key obstetric confounders. Results: Gestational age at delivery differed significantly across FT4 tertiles, with higher FT4 levels associated with a greater proportion of late-term deliveries. Lower FT4 levels were independently associated with lower neonatal birth weight categories after adjustment for gestational age and parity. Admission complete blood count parameters did not differ significantly across FT4 tertiles or gestational age categories. Maternal TSH levels were not independently associated with obstetric or neonatal outcomes, and no significant associations were observed with Apgar scores or NICU admission. Conclusions: In term pregnancies, maternal FT4 levels measured at labor admission are associated with delivery timing and neonatal birth weight but do not independently predict intrapartum fetal distress or adverse immediate neonatal outcomes. Full article

(This article belongs to the Special Issue Maternal–Fetal and Neonatal Diagnostics)

13 pages, 808 KB

Open AccessArticle

Serum Fatty Acid-Binding Protein 4: A Potential Diagnostic Marker Linking Lipid Metabolism and Inflammation in Intrahepatic Cholestasis of Pregnancy

by Sadun Sucu, Sadullah Özkan, Mustafa Alperen Aksan, Murat Levent Dereli, Belgin Savran Üçok, Ramazan Erda Pay, Kemal Sarsmaz, Harun Egemen Tolunay and Ali Turhan Çağlar

Diagnostics 2026, 16(4), 525; https://doi.org/10.3390/diagnostics16040525 - 10 Feb 2026

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Abstract

Objective: This study aimed to investigate maternal serum fatty acid-binding protein 4 (FABP4) levels in pregnancies complicated by intrahepatic cholestasis of pregnancy (ICP) and to evaluate its diagnostic and prognostic utility for maternal and neonatal outcomes. Methods: This prospective case–control study included 44 women diagnosed with ICP and 44 gestational age-matched healthy pregnant controls between 24 and 41 weeks of gestation. Serum FABP4 concentrations were measured using a quantitative sandwich enzyme-linked immunosorbent assay (ELISA). Demographic, biochemical, and perinatal data were collected prospectively. Group comparisons were performed using the t-test or Mann–Whitney U test, correlations by Pearson or Spearman tests, and diagnostic performance by receiver operating characteristic (ROC) curve analysis. Results: Maternal serum FABP4 levels between 25 and 39 weeks of gestation were significantly higher in the ICP group than in the control group (median 3.60 [Q1–Q3: 3.25–4.20] vs. 2.40 [Q1–Q3: 2.00–2.95] ng/mL; p < 0.001). ROC analysis revealed excellent diagnostic accuracy for ICP (AUC = 0.899; 95% CI: 0.816–0.953; p < 0.001) with an optimal cut-off value of >3.0 ng/mL, yielding 90% sensitivity and 84% specificity. FABP4 correlated inversely with gestational age at delivery in the total cohort (r = −0.430, p < 0.001) but not within the ICP subgroup. In predicting composite neonatal outcomes, FABP4 showed moderate performance (AUC = 0.634, 95% CI: 0.525–0.734, p = 0.032) and limited predictive ability within the ICP group (AUC = 0.535, p = 0.685). Conclusions: Maternal FABP4 levels are significantly elevated in ICP and show high diagnostic accuracy for ICP but have limited prognostic value for neonatal outcomes. FABP4 may represent a novel biomarker reflecting the metabolic–inflammatory interplay underlying the pathophysiology of intrahepatic cholestasis of pregnancy. Full article

(This article belongs to the Special Issue Maternal–Fetal and Neonatal Diagnostics)

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12 pages, 780 KB

Open AccessArticle

High Serum Adrenomedullin and Mid-Regional Pro-Atrial Natriuretic Peptide Concentrations in Early Pregnancy Predict the Development of Gestational Hypertension

by Aleksandra Jagodzinska, Agnieszka Wsol, Agata Gondek and Agnieszka Cudnoch-Jedrzejewska

Diagnostics 2024, 14(23), 2670; https://doi.org/10.3390/diagnostics14232670 - 27 Nov 2024

Cited by 1 | Viewed by 1200

Abstract

Objectives: Adrenomedullin (AM) and natriuretic peptide levels are elevated in pre-eclampsia. The aim of the present study was to determine AM and natriuretic peptide concentrations before 20 weeks of pregnancy in women who later developed gestational hypertension and in normal pregnancies. Methods: 95 pregnant Caucasian women were included in the study. Gestational hypertension (GH) was diagnosed in 18 patients. The control group consisted of 41 patients with normal pregnancies (non-GH). Blood samples were taken during the first trimester of pregnancy. Results: Analysis of NT-proBNP showed no significant differences between the group of patients who later developed GH and those with normal pregnancies. Patients who developed GH later in pregnancy had higher levels of both MR-proANP (p < 0.001) and adrenomedullin (p < 0.001). Higher levels of MR-proANP were found in the GH with pre-eclampsia group compared with the GH without pre-eclampsia group. Higher levels of AM (p < 0.05) and MR-proANP (p < 0.005) correlated with the risk of preterm birth. Conclusions: (1) Plasma adrenomedullin and MR-proANP concentrations were higher before the 20th week of pregnancy in women who later developed GH; (2) NT-proBNP concentrations did not differ between women with pregnancy-induced hypertension and normal pregnancies; (3) MR-proANP concentrations were highest in patients who developed pre-eclampsia in advanced pregnancy; and (4) there was a correlation between higher plasma adrenomedullin, MR-proANP concentrations before the 20th week of pregnancy, and the risk of preterm birth. Full article

(This article belongs to the Special Issue Maternal–Fetal and Neonatal Diagnostics)

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Review

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45 pages, 554 KB

Open AccessReview

Review of Precision Medicine and Diagnosis of Neonatal Illness

by Safaa ELMeneza, Naglaa Agaba, Rasha Abd El Samad Fawaz and Salwa Samir Abd Elgawad

Diagnostics 2025, 15(4), 478; https://doi.org/10.3390/diagnostics15040478 - 16 Feb 2025

Cited by 7 | Viewed by 5286

Abstract

Background/Objectives: Precision medicine is a state-of-the-art medicine tactic that tailors information about people’s genes, environment, and lifestyle to aid the prevention, diagnosis, and treatment of various diseases to provide an overview of the currently available knowledge and applicability of precision medicine in the diagnosis of different cases admitted to the NICU, such as encephalopathies, respiratory distress syndrome of prematurity, hemodynamic instability, acute kidney injury, sepsis, and hyperbilirubinemia. Methods: The authors searched databases, such as PubMed and PubMed Central, for the terms neonatal “precision medicine”, “personalized medicine”, “genomics”, and “metabolomics”, all related to precision medicine in the diagnosis of neonatal illness. The related studies were collected. Results: The review highlights the diagnostic approach that serves to implement precision medicine in the NICU and provide precision diagnosis, monitoring, and treatment. Conclusions: In this review, we projected several diagnostic approaches that provide precision identification of health problems among sick neonates with complex illnesses in the NICU; some are noninvasive and available in ordinary healthcare settings, while others are invasive or not feasible or still in ongoing research as machine learning algorithms. Future studies are needed for the wide implementation of artificial intelligence tools in the diagnosis of neonatal illnesses. Full article

(This article belongs to the Special Issue Maternal–Fetal and Neonatal Diagnostics)

13 pages, 266 KB

Open AccessReview

Lung Ultrasound in Neonatal Respiratory Distress Syndrome: A Narrative Review of the Last 10 Years

by Federico Costa, Annachiara Titolo, Mandy Ferrocino, Eleonora Biagi, Valentina Dell’Orto, Serafina Perrone and Susanna Esposito

Diagnostics 2024, 14(24), 2793; https://doi.org/10.3390/diagnostics14242793 (registering DOI) - 12 Dec 2024

Cited by 14 | Viewed by 5713

Abstract

Neonatal respiratory distress syndrome (RDS) is a common and potentially life-threatening condition in preterm infants, primarily due to surfactant deficiency. Early and accurate diagnosis is critical to guide timely interventions such as surfactant administration and respiratory support. Traditionally, chest X-rays have been used for diagnosis, but lung ultrasound (LUS) has gained prominence due to its non-invasive, radiation-free, and bedside applicability. Compared to chest X-rays and CT scans, LUS demonstrates superior sensitivity and specificity in diagnosing RDS, particularly in identifying surfactant need and predicting CPAP failure. Additionally, LUS offers real-time imaging without radiation exposure, an advantage over other modalities. However, its broader adoption is limited by challenges in standardizing training, ensuring diagnostic reproducibility, and validating scoring systems, especially in resource-limited settings. This narrative review aims to evaluate the role of LUS in the diagnosis and management of neonatal RDS over the past decade, focusing on its clinical utility, scoring systems, and emerging applications. We reviewed the literature from 2013 to 2023, focusing on studies evaluating LUS’ diagnostic accuracy, scoring systems, and its potential role in guiding surfactant therapy and predicting CPAP failure. Despite its benefits, addressing the variability in operator expertise and integrating artificial intelligence to enhance usability are crucial for ensuring LUS’ efficacy across diverse clinical environments. Future research should prioritize standardizing training and scoring protocols to facilitate wider implementation and optimize neonatal respiratory care outcomes. Full article

(This article belongs to the Special Issue Maternal–Fetal and Neonatal Diagnostics)

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