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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 (31 December 2023) | Viewed by 20497

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Prof. Dr. Antonio Farina

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Guest Editor

Obstetric Unit, Department of Medical and Surgical Sciences, University of Bologna and IRCCS Azienda Ospedaliero-Universitaria Sant’ Orsola-Malpighi, Bologna, Italy
Interests: obstetrics; pregnancy complications; ultrasound; Doppler; screening in pregnancy; fetal biometry; placental diseases; fetal DNA and miRNA
Special Issues, Collections and Topics in MDPI journals

Dr. Paolo Ivo Cavoretto

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IRCCS San Raffaele Hospital and University, Via Olgettina 62, 20132 Milan, Italy
Interests: obstetrics; pregnancy complications; ultrasound; Doppler; fetal medicine and surgery; MRI; screening in pregnancy; congenital malformations; congenital heart defects; open spina bifida; fetal growth; preterm delivery; preeclampsia; pregnancy after medically assisted reproduction
Special Issues, Collections and Topics in MDPI journals

Dr. Benito Chiofalo

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Guest Editor

Unit of Gynecologic Oncology, Department of Experimental Clinical Oncology, IRCCS “Regina Elena” National Cancer Institute, Rome, Italy
Interests: gynecology; gynecologic oncology; minimally invasive surgery

Special Issue Information

Dear Colleagues,

This Special Issue of Diagnostics focuses on the current state of knowledge and on the remarkable achievements that have been made in gynecological field.

The impact of these developments on our daily practice cannot be overemphasized. The theme of this Special Issue of Diagnostics is “Advances in Gynecology”, where in the most advanced innovations in the landscape of the gynecologic field are provided. The journal invites submissions of research that reflect both practical and technical innovations from colleagues running centers worldwide with expertise in the field.

Here are some examples of topics that could be addressed in this Special Issue:

Menopausal problems of healthcare providers and their impact on the quality of health service;
Menopause management options in daily practice;
Medicinal and minimally invasive procedures for uterine fibroids;
Endometriosis: options regarding management;
Current preconceptional diagnostic procedures in daily clinical practice;
Infections in obstetrics and gynecology and impact on infertility, early pregnancy loss, and preterm birth;
Current updates regarding early markers for pre-eclampsia detection;
Minimally invasive laparoscopic surgery;
Robot-assisted laparoscopic surgery;
3D laparoscopic surgery;
Intraoperative laparoscopic ultrasound;
Hysteroscopy.

The aim of this Special Issue is to highlight research topics including but not limited to the abovementioned ones.

It is my great honor to serve as the Guest Editor for this Special Issue and to have to opportunity to be involved in sharing the latest innovations in the gynecological field.

Prof. Dr. Antonio Farina
Dr. Paolo Ivo Cavoretto
Dr. Benito Chiofalo
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.

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Published Papers (11 papers)

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Research

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11 pages, 584 KiB

Open AccessArticle

Incidence and Antenatal Detection of Congenital Heart Malformations—Data from a Tertiary Obstetric Romanian Center

by Adrian Ciulpan, Adrian Lacatușu, Liviu Laurenţiu Pop, Corina Paul, Diana Lungeanu, Daniela Iacob, Brenda-Cristiana Bernad, Ana Lascu, Edida Maghet, Diana-Aurora Arnautu and Elena Silvia Bernad

Diagnostics 2024, 14(15), 1659; https://doi.org/10.3390/diagnostics14151659 - 1 Aug 2024

Viewed by 931

Abstract

Objectives: Congenital heart defects (CHDs) are among the most frequent congenital defects, and they significantly burden the healthcare system due to their high mortality rate and high cost of care for survivors. We aimed to highlight the incidence of CHDs in a tertiary center in Western Romania. Methods: A retrospective study was carried out between 2018 and 2022 at the “Pius Brinzeu” Emergency County Hospital Timisoara. Relevant information about the mothers and the newborns were collected and statistically analyzed. Results: The incidence of CHDs from 2018 to 2022 in our center was 5.3%. Eleven types of malformations were diagnosed postnatally in 541 newborns, with 28.8% of cases having more than one type of CHD. The antenatal detection rate was 28%, with the highest rates for tetralogy of Fallot, hypoplastic left heart syndrome, or significant ventricular septal defects and the lowest for pulmonary stenosis. The lower antenatal detection rate was influenced mainly by incomplete or absent prenatal care. Conclusions: The incidence of CHDs is clearly dependent of a multifactorial approach, and the results highlight this. With an incidence almost 50% lower than reported within the literature and a low rate of prenatal detections, CHDs could be a more of a burden to endure regarding medical treatment. Improvements in patients’ education, prenatal care, and screening programs could improve diagnosis, decrease mortality, and optimize postnatal care. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

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12 pages, 254 KiB

Open AccessEditor’s ChoiceArticle

Genetic Insights and Neonatal Outcomes in Preeclampsia and Eclampsia: A Detailed Analysis of the RS5707 Genotype

by Flavius George Socol, Elena Silvia Bernad, Marius Craina, Simona-Alina Abu-Awwad, Brenda-Cristiana Bernad, Ioana Denisa Socol, Simona Sorina Farcas, Ahmed Abu-Awwad and Nicoleta Ioana Andreescu

Diagnostics 2024, 14(13), 1366; https://doi.org/10.3390/diagnostics14131366 - 27 Jun 2024

Cited by 1 | Viewed by 1676

Abstract

Background: Preeclampsia (PE) and eclampsia (E) are severe pregnancy complications with significant maternal and neonatal health impacts. This study explores the association of the rs5707 polymorphism in the renin-angiotensin system (RAS) with PE/E and related neonatal outcomes. Materials and Methods: We conducted a cross-sectional study involving 400 mother–newborn dyads at the “Pius Brinzeu” Emergency Clinical Hospital Timisoara. Participants were divided into a control group (254 normotensive women) and a PE/E group (146 women with PE/E). Genotyping for the rs5707 polymorphism was performed using real-time PCR, and statistical analyses assessed associations with maternal body mass index (BMI) and neonatal outcomes. Results: The AA genotype of rs5707 was significantly associated with a reduced risk of PE/E and more favorable neonatal outcomes, including higher Apgar scores, greater birth weights, and longer gestational ages. Conversely, the AC genotype correlated with increased maternal BMI and adverse neonatal outcomes. Odds ratios highlighted the protective effect of the AA genotype against PE/E and the increased risk associated with the AC genotype. Conclusions: This study revealed the critical role of the rs5707 polymorphism in PE/E development and neonatal health. Genetic screening for rs5707 could enhance early identification and personalized intervention strategies, improving outcomes for both mothers and neonates. Further research is needed to validate these findings across diverse populations and to uncover the underlying mechanisms. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

12 pages, 442 KiB

Open AccessArticle

NT-proBNP—Possible Prognostic Marker in Pregnant Patients with Associated Cardiovascular Risk Factors and SARS-CoV-2 Infection

by Carmen-Ioana Marta, Anca Laura Maghiari, Elena Bernad, Lavinia Stelea, Brenda Bernad, Lioara Boscu, Radu Neamtu, Adrian Gluhovschi, Mircea Diaconu, Catalin Dumitru, Bogdan Sorop and Katalin Babes

Diagnostics 2023, 13(19), 3032; https://doi.org/10.3390/diagnostics13193032 - 23 Sep 2023

Viewed by 1241

Abstract

Background: N-terminal pro brain-type natriuretic peptide (NT-proBNP) is a practical biomarker in the clinical pathologies where the ventricle is under stress and particularly stretched in the general population. The study aims to compare the value of NT-proBNP and its importance in the prognosis and severity of the cases involving pregnant patients with SARS-CoV-2 infection and cardiovascular risk factors to those of low-risk pregnant patients, mainly by analysing their symptoms, administered medication, days of hospitalization and severity of the viral disease. Methods: The study included a total of eighty-three pregnant patients who underwent natural birth or caesarean section at out hospital. NT-proBNP levels were analyzed at hospital admission as a potential cardiovascular marker. A comparative analysis was performed between pregnant patients with cardiovascular risk factors and pregnant patients without cardiovascular risk factors regarding NT-proBNP values. Results: Pregnant patients with SARS-CoV-2 infection and cardiovascular risk factors had higher values of NT-proBNP in comparison to pregnant patients without cardiovascular risk factors. Conclusions: NT-proBNP testing in pregnant patients with SARS-CoV-2 infection can be a relatively important marker to be taken into consideration when it comes to the management, treatment and outcome of the cases, especially when it comes to women with associated cardiovascular risk factors. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

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12 pages, 496 KiB

Open AccessArticle

Relationship between Serum 25-Hydroxyvitamin D Levels and Hormonal Status in Infertile Women: A Retrospective Study

by Melinda Kolcsár, Bernadett Berecki and Zsolt Gáll

Diagnostics 2023, 13(19), 3024; https://doi.org/10.3390/diagnostics13193024 - 22 Sep 2023

Cited by 3 | Viewed by 1624

Abstract

(1) Background: Infertility is a prevalent issue that affects 10–18% of couples worldwide, and up to 30% in Eastern Europe. Infertility of unknown etiology is one of the most challenging forms of infertility. Vitamin D has recently been extensively studied and researchers are investigating its possible role in ovulation and pregnancy. While the evidence suggests a positive association between vitamin D and ovulation, more research is needed to understand the role that vitamin D plays in ovulation. (2) Methods: In this study, 86 infertile patients were studied retrospectively in a single center by analyzing their anthropometric (body mass index), biochemical (total cholesterol, insulin resistance) and hormonal data in correlation with their vitamin D status. (3) Results: It was found that the mid-luteal progesterone level was significantly related to the 25-hydroxy vitamin D level in a multivariate linear regression model. An analysis of subgroups of ovulatory and anovulatory patients suggests that serum 25-hydroxy vitamin D levels of approximately 20 ng/mL may be necessary to trigger ovulation or to support progesterone secretion. (4) Conclusions: Vitamin D deficiency should be considered when infertility of unknown etiology and progesterone-related disorders occur. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

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11 pages, 1199 KiB

Open AccessArticle

Corifolitropin-Alfa plus Five Days Letrozole Versus Daily Recombinant-FSH in Expected Normo-Responder Patients: A Retrospective Comparative Study

by Giuseppe D’Amato, Anna Maria Caringella, Antonio Stanziano, Clementina Cantatore, Antonio D’Amato, Ettore Cicinelli and Amerigo Vitagliano

Diagnostics 2023, 13(7), 1249; https://doi.org/10.3390/diagnostics13071249 - 27 Mar 2023

Viewed by 1694

Abstract

Background: In recent times, different novel GnRH-antagonist protocols with various combinations of gonadotropins and other molecules (e.g., aromatase inhibitors, selective estrogen receptor modulators) have been proposed for expected normal ovarian responders undergoing assisted reproductive treatments. The purpose of this study was to evaluate the effectiveness of a novel ovarian stimulation protocol based on the combination of corifollitropin-alfa plus five days of letrozole in E-NOR women undergoing IVF as compared with a daily recombinant-FSH regimen. Methods: We conducted a retrospective-controlled study on 182 couples undergoing their first IVF attempt. In Group A (experimental), letrozole (2.5 mg daily) was administered from day 2 (up to day 6 of the cycle), followed by corifollitropin-alfa on day 3 and daily recombinant FSH from day 10. In Group B, recombinant FSH from day 2 were administered (150 IU-225 IU daily). Statistical analysis was completed using SPSS Statistics. The primary outcome was the total number of MII oocytes retrieved. Results: Group A showed similar results compared to Group B in terms of MII oocytes, live birth, implantation, and clinical pregnancy rates (p = ns). Nevertheless, the experimental group was associated with a trend towards a higher number of developing follicles, total oocytes, and embryos (p < 0.05) with lower estradiol and progesterone values at ovulation induction compared to Group B, resulting in an increased chance of performing a fresh embryo transfer (p < 0.05). Conclusions: The combination of CFα plus five days of letrozole was associated with a trend towards a higher number of developing follicles, total oocytes, and obtained embryos. Moreover, the experimental protocol resulted in lower estradiol and progesterone values at ovulation induction compared to daily rFSH, with an increased chance of performing a fresh embryo transfer (with no OHSS occurrence). Given the observational design of our study, further well-conducted RCTs are needed. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

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13 pages, 297 KiB

Open AccessArticle

Symptomatic COVID-19 in Pregnancy: Hospital Cohort Data between May 2020 and April 2021, Risk Factors and Medicolegal Implications

by Marianna Maranto, Simona Zaami, Vincenzo Restivo, Donatella Termini, Antonella Gangemi, Mario Tumminello, Silvia Culmone, Valentina Billone, Gaspare Cucinella and Giuseppe Gullo

Diagnostics 2023, 13(6), 1009; https://doi.org/10.3390/diagnostics13061009 - 7 Mar 2023

Cited by 15 | Viewed by 1604

Abstract

Pregnancy does not appear to increase susceptibility to SARS-CoV-2 infection, but some physiological changes, such as the reduction of residual functional volumes, elevation of the diaphragm, and impaired cellular immunity, may increase the risk of severe disease and result in a higher risk of complications. The article’s primary objective is to evaluate the factors associated with symptomatic COVID-19 disease in pregnancy. The secondary objective is to describe maternal and neonatal outcomes and cases of vertical transmission of the infection. All pregnant women hospitalized with SARS-CoV2 infection were included in a prospective study in the UOC of Obstetrics and Gynecology, AOOR Villa Sofia—Cervello, Palermo, between May 2020 and April 2021. The patients who requested the termination of the pregnancy according to Law 194/78 were excluded. We included 165 pregnancies with a total number of 134 deliveries. Overall, 88.5% of the patients were asymptomatic at the time of admission and 11.5% were symptomatic. Of them, 1.8% of the patients required hospital admission in the intensive care unit. Symptoms occurrences were positively associated with the increase in maternal BMI (OR 1.17; p = 0.002), the prematurity (OR 4.71; p = 0.022), and at a lower birth weight (OR 0.99; p = 0.007). One infant tested positive for SARS-CoV2 nasopharyngeal swab; 11.4% of newborns had IgG anti SARS-CoV2 at birth; IgM was positive in 2.4% of newborns. There was no difference statistically significant difference in the vertical transmission of the infection among the group of symptomatic pregnant women and that of asymptomatic pregnant women. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

10 pages, 1628 KiB

Open AccessArticle

Changes in Artery Diameters and Fetal Growth in Cases of Isolated Single Umbilical Artery

by Elena Contro, Laura Larcher, Jacopo Lenzi, Marina Valeriani, Antonio Farina and Eric Jauniaux

Diagnostics 2023, 13(3), 571; https://doi.org/10.3390/diagnostics13030571 - 3 Feb 2023

Cited by 4 | Viewed by 3002

Abstract

Background—There are conflicting data in the international literature on the risks of abnormal fetal growth in fetuses presenting an isolated single umbilical artery (SUA), and the pathophysiology of this complication is poorly understood. Objective—To evaluate if changes in diameter of the remaining umbilical artery in fetuses presenting an isolated SUA are associated with different fetal growth patterns. Study design—This was a two-center prospective longitudinal observational study including 164 fetuses diagnosed with a SUA at the 20–22-week detailed ultrasound examination and 200 control fetuses with a three-vessel cord. In all cases, the diameters of the cord vessels were measured in a transverse view of the central portion of the umbilical cord, and the number of cord vessels was confirmed at delivery. Logistic regression and nonparametric receiver operating characteristic (ROC) analysis were carried out to evaluate the association of the umbilical artery diameter in a single artery with small for-gestational age (SGA) and with fetal growth restriction (FGR). The impact of artery dimension was adjusted for maternal BMI, parity, ethnicity, side of the remaining umbilical artery and umbilical resistance index (RI) in the regression model. Results—A significantly (p < 0.001) larger mean diameter was found for the remaining artery in fetuses with SUA compared with controls (3.0 ± 0.9 vs. 2.5 ± 0.6 mm). After controlling for BMI and parity, we found no difference in umbilical resistance and side of the remaining umbilical artery between the SUA and control groups. A remaining umbilical artery diameter of >3.1 mm was found to be associated with a lower risk of FGR, but this association failed to be statistical significant (OR = 0.60, 95% CI = 0.33–1.09, p value = 0.089). We also found that the mean vein-to-artery area ratio was significantly (p < 0.001) increased in the SUA group as compared with the controls (2.4 ± 1.8 vs. 1.8 ± 0.9; mean difference = 0.6; Cohen’s d = 0.46). Conclusion—In most fetuses with isolate SUA, the remaining artery diameter at 20-22 weeks is significantly larger than in controls. When there are no changes in the diameter and, in particular, if it remains <3.1 mm, the risk of abnormal fetal growth is higher, and measurements of the diameter of the remaining artery could be used to identify fetuses at risk of FGR later in pregnancy. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

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Review

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16 pages, 3235 KiB

Open AccessReview

Sexually Transmitted Diseases—An Update and Overview of Current Research

by Kristina Wihlfahrt, Veronika Günther, Werner Mendling, Anna Westermann, Damaris Willer, Georgios Gitas, Zino Ruchay, Nicolai Maass, Leila Allahqoli and Ibrahim Alkatout

Diagnostics 2023, 13(9), 1656; https://doi.org/10.3390/diagnostics13091656 - 8 May 2023

Cited by 2 | Viewed by 3592

Abstract

A rise in the rates of sexually transmitted diseases, both worldwide and in Germany, has been observed especially among persons between the ages of 15 and 24 years. Since many infections are devoid of symptoms or cause few symptoms, the diseases are detected late, may spread unchecked, and be transmitted unwittingly. In the event of persistent infection, the effects depend on the pathogen in question. Manifestations vary widely, ranging from pelvic inflammatory disease, most often caused by Chlamydia trachomatis (in Germany nearly 30% of PID) or Neisseria gonorrhoeae (in Germany <2% of PID), to the development of genital warts or cervical dysplasia in cases of infection with the HP virus. Causal treatment does exist in most cases and should always be administered to the sexual partner(s) as well. An infection during pregnancy calls for an individual treatment approach, depending on the pathogen and the week of pregnancy. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

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13 pages, 2269 KiB

Open AccessCase Report

Mixed Heterotopic Gastrointestinal/Respiratory Oral Cysts in Newborns: From Prenatal Diagnosis to Histopathological and Therapeutic Management: A Case Report and Literature Review

by Valentin Nicolae Varlas, Ioanina Parlatescu, Dragos Epistatu, Oana Neagu, Roxana Georgiana Varlas and Laura Bălănescu

Diagnostics 2024, 14(3), 339; https://doi.org/10.3390/diagnostics14030339 - 4 Feb 2024

Cited by 2 | Viewed by 1635

Abstract

Fetal lingual tumors are very rare, and their early prenatal diagnosis is important for defining the subsequent therapeutic strategy. In this study, we aimed to describe a case of a congenital septate lingual cyst and perform an extensive literature review on two main databases (PubMed, Web of Science), analyzing the clinical manifestations, the imaging appearance, the differential diagnosis, and particularities regarding the treatment of these tumors. The electronic search revealed 17 articles with 18 cases of mixed heterotopic gastrointestinal/respiratory oral epithelial cysts that met the eligibility criteria and were included in this review. The clinical case was diagnosed prenatally during second-trimester screening. On the eighth day of life, the fetus underwent an MRI of the head, which revealed an expansive cystic process on the ventral side of the tongue with the greatest diameter of 21.7 mm, containing a septum of 1 mm inside. On the 13th day of life, surgery was performed under general anesthesia, and the lingual cystic formation was completely excised. The postoperative evolution was favorable. The histopathological examination revealed a heterotopic gastric/respiratory-mixed epithelial cyst with non-keratinized respiratory, gastric squamous, and foveolar epithelium. The lingual cyst diagnosed prenatally is an accidental discovery, the differential diagnosis of which can include several pathologies with different degrees of severity but with a generally good prognosis. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

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3 pages, 548 KiB

Open AccessInteresting Images

Cloacal Dysgenesis Sequence

by Nicolae Gică, Livia Apostol, Iulia Huluță, Corina Gică, Nicoleta Gana and Ana-Maria Vayna

Diagnostics 2023, 13(23), 3529; https://doi.org/10.3390/diagnostics13233529 - 24 Nov 2023

Viewed by 1117

Abstract

This article presents a rare case of cloacal dysgenesis sequence (CDS) detected at 23 weeks of gestation in a 36-year-old woman’s first ongoing pregnancy. The fetal ultrasound demonstrated anhydramnios, megacystis, the “keyhole sign” and empty bilateral renal fossae, findings consistent with the fetal obstructive uropathy (FOU). A subsequent postmortem carried out confirmed a diagnosis of a cloacal dysgenesis sequence, characterized by the absence of anal, genital and urinary openings with intact perineum covered by smooth skin and a phallus-like structure. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

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4 pages, 464 KiB

Open AccessInteresting Images

Prenatal Ultrasound Diagnosis of Klippel–Trenaunay Syndrome

by Nicolae Gică, Andreea Dumitru, Anca Maria Panaitescu, Corina Gică, Gheorghe Peltecu, Anca Marina Ciobanu and Laura Bălănescu

Diagnostics 2023, 13(22), 3400; https://doi.org/10.3390/diagnostics13223400 - 8 Nov 2023

Cited by 1 | Viewed by 1378

Abstract

Klippel–Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary–lymphatic–venous malformation with unknown aetiology. The aim of our paper is to highlight interesting images, regarding a rare case of foetal Klippel–Trenaunay syndrome diagnosed prenatally in our department and confirmed postnatally with a favourable evolution during the gestation and neonatal periods. This case was diagnosed at 26 weeks gestation and characterised through ultrasound by the presence of superficial multiple cystic structures of different sizes spreading over the left leg with hemihypertrophy and reduced mobility. The cystic lesions were spreading to the left buttock and the pelvic area. The right leg and upper limbs had normal appearance with good mobility. There were no signs of hyperdynamic circulation or foetal anaemia, but mild polyhydramnios was associated. The ultrasound findings were confirmed postnatally, the left leg presented multiple cystic lesions and port wine stains, and there was hypertrophy and fixed position, with favourable evolution at 6 months of life, when the size of the lesions began to decrease and the mobility of the leg improved. Full article

(This article belongs to the Special Issue Editorial Board Members' Collection Series: Advances in Gynecology and Obstetrics)

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