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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: 31 March 2025 | Viewed by 9982

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Special Issue Editors

Dr. Paola Quaresima

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Guest Editor

Unit of Obstetrics and Gynaecology, Department of Clinical and Experimental Medicine, "Magna Græcia" University of Catanzaro, Viale Europa, 88100 Catanzaro, Italy
Interests: perinatal medicine; fetal medicine

Dr. Ilaria Fantasia

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Guest Editor

Obsteric & Gynecology Unit, San Salvatore Hospital, L’Aquila, Italy
Interests: perinatal medicine; fetal medicine

Special Issue Information

Dear Colleagues,

Fetal and perinatal medicine are branches of obstetrics and gynecology focusing on the management of complications that the mother and fetus may experience before, during and immediately after birth. It is a very broad field that involves either the pregnant woman, the fetus, or both as a single entity in which the complications of one can impact the other.

In recent years, advances in research and technology have allowed for significant improvement in perinatal care, ranging from early screening of fetal and maternal complications, such as fetal aneuploidies and preeclampsia, up to the in utero treatment of fetal complications through minimally invasive approaches, such as laser coagulation of placental anastomosis in monochorionic twin pregnancies or antenatal spinal defect treatment. A multidisciplinary approach is, therefore, essential and is based on the collaboration between the fetal medicine specialist, geneticists and pediatric surgeons.

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

The aim of this Special Issue is to gather relevant scientific information in the field of perinatal and fetal medicine with the aim of supporting the clinician in the daily management of maternal–fetal complications.

This Special Issue will include (but is not limited to):

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

Randomized Controlled Trials (RCTs), reviews, meta-analyses, cohort studies, and case reports, are welcome.

Dr. Paola Quaresima
Dr. Ilaria Fantasia
Guest Editors

Manuscript Submission Information

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Published Papers (9 papers)

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Research

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10 pages, 4315 KiB

Open AccessArticle

False-Positive Diagnosis of Congenital Heart Defects at First-Trimester Ultrasound: An Italian Multicentric Study

by Silvia Andrietti, Serena D’Agostino, Marina Panarelli, Laura Sarno, Maria Laura Pisaturo and Ilaria Fantasia

Diagnostics 2024, 14(22), 2543; https://doi.org/10.3390/diagnostics14222543 - 13 Nov 2024

Viewed by 302

Abstract

Objective. Our objective was to assess the proportion of false-positive CHD cases at the first-trimester evaluation of the fetal heart, performed by experienced operators. Methods. This multicenter retrospective study included of pregnant women with suspicion of CHDs during first-trimester screening for aneuploidies. In all cases, the fetal heart assessments were performed by obstetricians with extensive experience in first-trimester scanning, following an extended protocol proposed by SIEOG national guidelines, which included an axial view of the fetal abdomen and chest to assess visceral situs and evaluation of the four-chamber view (4CV) and three-vessel trachea view (3VTV) with color Doppler. In all suspected cases, fetal echocardiography was offered within 16 and/or at 19–22 weeks’ gestation. Results. From a population of 4300 fetuses, 46 CHDs were suspected. Twenty-four cases were excluded from this analysis because the parents opted for early termination of the pregnancies due to associated structural and/or genetic anomalies. For the remaining 22, echocardiography was performed by 16 weeks in 14 cases (64%) and after 16 weeks in 8 cases. In 19 cases (86.4%), a fetal cardiologist confirmed the presence of a CHD. In three cases (13%), the cardiac anatomy was found to be normal at the fetal echocardiography and postnatally. Conclusions. This study shows that the proportion of false-positive cases at the first-trimester ultrasound examination of the fetal heart, performed by experienced operators, may carry a higher risk of false-positive diagnosis than expected. Therefore, this issue must be discussed in instances where a CHD is suspected at the first-trimester screening. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)

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12 pages, 3159 KiB

Open AccessArticle

An Association Between Fetal Subarachnoid Space and Various Pathologies Using MR Imaging

by Lior Onn-Margalit, Tal Weissbach, Michal Gafner, Shalev Fried, Ayelet Wandel, Tomer Ziv-Baran and Eldad Katorza

Diagnostics 2024, 14(22), 2535; https://doi.org/10.3390/diagnostics14222535 - 13 Nov 2024

Viewed by 337

Abstract

Background/Objectives: This study aimed to explore a relationship between the fetal subarachnoid space (SAS) width and various fetal pathologies, employing fetal brain MRI scans. Methods: A retrospective collection of fetal brain MRI scans of 78 fetuses was performed with sonographic indications of microcephaly, macrocephaly, or fetal growth restriction (FGR), during a 7-year period at a single tertiary center. The SAS width (named the SAS index) was manually measured in millimeters in ten specific anatomical locations (four in the axial plane and six in the coronal plane), and then converted to centiles by comparing it to (previously collected) data of apparently healthy fetuses. We evaluated the median SAS centiles using the Kruskal–Wallis and Mann–Whitney U tests for statistical comparison. Results: Seventy-eight subjects (mean gestational age of MRI scan 34.2 ± 2.2 weeks) were evaluated. The median SAS centiles were consistently higher in the macrocephaly group compared to the microcephaly group in all ten anatomical locations (statistically significant except coronal left inferior temporal gyri). Most pronounced difference was displayed in the insula gyri (axial and coronal). The median SAS centiles were higher in the microcephaly group when compared with FGR across all ten anatomical locations (all were statistically significant except for coronal frontal and insula gyri), and the maximal difference was found in the frontal gyri of both planes. The median SAS indexes (IQR) of the three groups in millimeters: macrocephaly 91.55 (86.35–101.05), microcephaly 59.46 (50.00–66.91), and FGR 53.21 (49.71–59.10), p < 0.001. Conclusions: We found a statistically significant association between the fetal subarachnoid space and various fetal pathologies: macrocephaly, microcephaly, and FGR. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)

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20 pages, 5496 KiB

Open AccessArticle

Neurosonographic Classification in Premature Infants Receiving Omega-3 Supplementation Using Convolutional Neural Networks

by Suzana Zivojinovic, Suzana Petrovic Savic, Tijana Prodanovic, Nikola Prodanovic, Aleksandra Simovic, Goran Devedzic and Dragana Savic

Diagnostics 2024, 14(13), 1342; https://doi.org/10.3390/diagnostics14131342 - 25 Jun 2024

Viewed by 760

Abstract

This study focuses on developing a model for the precise determination of ultrasound image density and classification using convolutional neural networks (CNNs) for rapid, timely, and accurate identification of hypoxic-ischemic encephalopathy (HIE). Image density is measured by comparing two regions of interest on ultrasound images of the choroid plexus and brain parenchyma using the Delta E CIE76 value. These regions are then combined and serve as input to the CNN model for classification. The classification results of images into three groups (Normal, Moderate, and Intensive) demonstrate high model efficiency, with an overall accuracy of 88.56%, precision of 90% for Normal, 85% for Moderate, and 88% for Intensive. The overall F-measure is 88.40%, indicating a successful combination of accuracy and completeness in classification. This study is significant as it enables rapid and accurate identification of hypoxic-ischemic encephalopathy in newborns, which is crucial for the timely implementation of appropriate therapeutic measures and improving long-term outcomes for these patients. The application of such advanced techniques allows medical personnel to manage treatment more efficiently, reducing the risk of complications and improving the quality of care for newborns with HIE. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)

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8 pages, 406 KiB

Open AccessArticle

Maternal Reassurance, Satisfaction, and Anxiety after First-Trimester Screening for Aneuploidies: Comparison between Contingent Screening and Universal Cell-Free DNA Testing

by Anna Luna Tramontano, Ilaria Marano, Giuliana Orlandi, Antonio Angelino, Maria Rivieccio, Caterina Fulgione, Giuseppe Maria Maruotti, Gabriele Saccone, Gabriella De Vita, Maurizio Guida and Laura Sarno

Diagnostics 2024, 14(11), 1198; https://doi.org/10.3390/diagnostics14111198 - 6 Jun 2024

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Abstract

Background: This study aims to evaluate maternal reassurance, satisfaction, and anxiety after two different strategies for the first-trimester screening for aneuploidies. Methods: Patients between 11 + 3 and 13 + 6 weeks of gestation attending the first-trimester screening at Department of Mother and Child, University Hospital Federico II, Naples, Italy have been recruited and randomly allocated to contingent screening or universal cell-free fetal DNA testing (cffDNA). Questionnaires to measure reassurance, satisfaction, and anxiety have been filled twice: (Q1) after randomization and (Q2) after receiving results. Anxiety was measured by an Italian-version short form of the state scale of the Spielberger State–Trait Anxiety Inventory (STAI); child-related anxiety was measured by the 11-item Pregnancy-Related Anxiety Questionnaire—Revised Regardless of Parity (PRAQ-R2 scale); fear of bearing a physically or mentally handicapped child was measured considering only four items (item 4, 9, 10, and 11) of the PRAQ-R2 scale. Results: 431 patients were recruited: 205 (49%) were randomized in the contingent screening arm, 226 (51%) in the cfDNA arm. Maternal reassurance, satisfaction, and anxiety were not different in the two groups. Conclusion: A contingent screening for aneuploidies in the first trimester seems able to ensure the same maternal reassurance and satisfaction as a cfDNA analysis in the low-risk population and to not affect maternal anxiety. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)

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10 pages, 458 KiB

Open AccessArticle

Association between White Matter T2 Hyper-Intense Signals in Fetal Brain Magnetic Resonance Imaging and Neurodevelopment of Fetuses with Cytomegalovirus Infection

by Galia Barkai, Eldad Katorza, Simon Lassman, Itachi Levinberg, Chen Hoffmann and Omer Bar-Yosef

Diagnostics 2024, 14(8), 797; https://doi.org/10.3390/diagnostics14080797 - 11 Apr 2024

Viewed by 1431

Abstract

An association between subtle changes in T2 white matter hyper-intense signals (WMHSs) detected in fetal brain magnetic resonance imaging (fbMRI) and congenital cytomegalovirus (CMV) infection has been established. The research aim of this study is to compare children with congenital CMV infection with neurodevelopment outcome and hearing deficit with and without WMHSs in a historic prospective case study cohort of 58 fbMRIs. Of these, in 37 cases, fbMRI was normal (normal group) and WMHSs were detected in 21 cases (WMHS group). The median infection week of the WMHS group was earlier than the normal fbMRI group (8 and 17 weeks of gestation, respectively). The proportion of infants treated with valganciclovir in the WMHS group was distinctly higher. Hearing impairment was not significantly different between the groups. VABS scores in all four domains were within normal range in both groups. The median score of the motor skills corrected for week of infection was better in the WMHS group. A multivariate analysis using the week of infection interaction variable of WMHS and valganciclovir treatment showed better motor score outcomes in the valganciclovir treatment group despite an earlier week of infection. WMHSs were not associated with neurodevelopmental outcome and hearing deficit. In our cohort, valganciclovir treatment may have a protective effect on fetuses with WMHSs by improving neurodevelopmental outcome. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)

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12 pages, 6328 KiB

Open AccessArticle

Agreement between Fetal Brain Ultrasonography and Magnetic Resonance Imaging in the Measurements of the Corpus Callosum and Transverse Cerebellar Diameter

by Shai Bookstein, Noy Nachmias and Eldad Katorza

Diagnostics 2024, 14(4), 366; https://doi.org/10.3390/diagnostics14040366 - 7 Feb 2024

Viewed by 1760

Abstract

As the use of magnetic resonance imaging of the fetal brain has evolved, the need to understand its efficiency in the biometry of the fetal brain has broadened. This study aimed to assess the level of agreement and correlation between the two cardinal imaging methods of fetal neuroimaging, ultrasonography (US) and magnetic resonance imaging (MRI), by measuring the corpus callosum (CC) and transverse cerebellar diameter (TCD) in terms of length and percentile. Measurements of CC and TCD length and percentile were documented over a 7-year span in a tertiary referral medical center. All US and MRI examinations were performed in the customary planes and subcategorized by valid reference charts. Exclusion and inclusion criteria were set before the collection and processing of the data. A total of 156 fetuses out of 483 were included in the study. A positive, strong correlation and agreement were found (r = 0.78; ICC = 0.76) between US and MRI in TCD measurements. For CC length measurement, a moderate correlation and moderate agreement (r = 0.51; ICC = 0.49) between US and MRI was observed. TCD and CC percentiles had lower levels of correlation and agreement compared with the length variables. Our study indicates good agreement between MRI and US in the assessment of TCD measurement as a part of antenatal neuroimaging. Furthermore, while the two techniques are not always compatible, they are complementary methods. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)

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Review

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16 pages, 1192 KiB

Open AccessReview

The Role of Social Determinants in Diagnosis Timing for Fetal Care Center-Eligible Conditions: A Scoping Review

by Abigail B. Wilpers, Barbara Eichhorn, Janene Batten, Katie Francis, Amy B. Powne, Shukri Jumale, Kara Hansen, Katherine Kohari and Scott A. Lorch

Diagnostics 2024, 14(14), 1503; https://doi.org/10.3390/diagnostics14141503 - 12 Jul 2024

Viewed by 1035

Abstract

Timely identification of fetal conditions enables comprehensive evaluation, counseling, postnatal planning, and prenatal treatments. This study assessed the existing evidence on how social determinants of health (SDOH) influence diagnosis timing of fetal conditions appropriate for care in fetal care centers (FCCs). Eligible studies were conducted in the U.S. and published in English after 1999. We employed the Healthy People 2020 SDOH framework to categorize and analyze data from 16 studies, where 86% focused solely on congenital heart disease (CHD). Studies primarily focused on individual-level SDOH, with only 36% addressing structural-level factors. A total of 31 distinct indicators of SDOH were identified, with 68% being unique to individual studies. Indicators often varied in definition and specificity. Three studies covered all five SDOH categories in the Healthy People 2020 Framework. Studies revealed varying and often conflicting associations with SDOH indicators, with race and ethnicity being the most explored (100%), followed by socioeconomic status (69%), maternal age (57%), residence (43%), and structural factors (29%). Our findings highlight the need for more comprehensive research, including conditions beyond CHD, and the establishment of consensus on indicators of SDOH. Such efforts are necessary to gain a deeper understanding of the underlying factors driving disparities in fetal diagnosis and treatment. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)

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Other

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8 pages, 1444 KiB

Open AccessCase Report

Using Resuscitative Endovascular Balloon Occlusion of the Aorta (REBOA) as a Rescue Strategy in Severe Postpartum Hemorrhage: A Case Report

by Sophie-Kristin Brauer, Alexandre Athanasios Musy, Sophie Schneider, Fabienne Nicole Trottmann, Nina Kaderli, Christian Vetter, Daniel Surbek, Marc Schindewolf, Anna Lea Gerber, Manuela Stotz, Wolf Hautz and Jarmila A. Zdanowicz

Diagnostics 2024, 14(17), 1980; https://doi.org/10.3390/diagnostics14171980 - 7 Sep 2024

Cited by 1 | Viewed by 1267

Abstract

Postpartum hemorrhage (PPH) is a leading cause of maternal morbidity and mortality. Routine treatment of PPH includes uterotonics, tranexamic acid, curettage, uterine (balloon) tamponade, compression sutures, uterine artery ligation, and, if available, transcatheter arterial embolization (TAE). In cases of severe PPH refractory to standard medical and surgical management, hysterectomy is usually the ultima ratio, and is equally associated with a higher rate of complications. In addition, this sudden loss of fertility, especially in young women, can be devastating. Here, we report a case of a 29-year-old woman who suffered from severe PPH with a blood loss > 1500 mL and hemodynamic instability after delivery of her first baby at a smaller hospital. She was consequently successfully treated with resuscitative endovascular balloon occlusion of the aorta (REBOA) by first placing a balloon catheter into the infra-renal aorta and subsequent TAE after failure of all other available treatment options prior to hysterectomy. TAE has been suggested in PPH treatment to avoid hysterectomies and thus to preserve patients’ reproductive function. If hemodynamic stabilization cannot be achieved with mass transfusion, REBOA seems to be an effective rescue strategy with which to achieve hemodynamic stabilization and gain additional time for embolization. Although REBOA is already recommended in several PPH guidelines, this approach seems relatively unknown in German-speaking countries. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)

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11 pages, 3014 KiB

Open AccessCase Report

Surgical Conservative Management of a Retained Placenta after Angular Pregnancy, a Case Report and Literature Review

by Giovanna Bitonti, Paola Quaresima, Giampiero Russo, Costantino Di Carlo, Giuseppina Amendola, Rosanna Mazzulla, Roberta Venturella and Michele Morelli

Diagnostics 2023, 13(23), 3492; https://doi.org/10.3390/diagnostics13233492 - 21 Nov 2023

Cited by 1 | Viewed by 1482

Abstract

Angular pregnancies are rare and difficult to diagnose. Evidence suggests they are associated with a higher risk of intrauterine growth restriction and abnormal third stage of labor due to a retained placenta. The lack of standardized AP diagnostic criteria impacts on their correct identification and makes the treatment of potential complications challenging. We present a case of the successful conservative surgical management of a retained placenta after a term AP also complicated by intrauterine growth restriction. Moreover, to identify the best evidence regarding AP diagnostic criteria and retained placenta therapeutic approaches, we have realized an expert literature review. Full article

(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine)

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