Diagnosis and Management in Prenatal Medicine—2nd Edition

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

Deadline for manuscript submissions: closed (30 November 2023) | Viewed by 13908

Special Issue Editor

Center of Medical Genetics UZA/UA, Antwerp University Hospital, 2000 Antwerp, Belgium
Interests: prenatal diagnosis; preimplantation genetic testing; genetic counselling; genetic diagnosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Prenatal medicine is a rapidly expanding field with new diagnostic possibilities due to developments in genetic and molecular diagnosis. These new prospects also pose novel challenges regarding the interpretation of results and ethical considerations. This Special Issue on ‘Diagnosis and Management in Prenatal Medicine—2nd Edition’ aims to publish papers expounding new insights into the area of fetal and maternal medicine.

Prof. Dr. Bettina Blaumeiser
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 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

  • prenatal diagnosis
  • fetus
  • pregnancy
  • prenatal screening
  • invasive prenatal test
  • amniocentesis
  • chorionic villous sampling
  • NIPT

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Published Papers (6 papers)

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Research

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15 pages, 323 KiB  
Article
Perinatal Outcomes of Neonates with Complex and Simple Gastroschisis after Planned Preterm Delivery—A Single-Centre Retrospective Cohort Study
by Renata Jaczyńska, Dariusz Mydlak, Boyana Mikulska, Anna Nimer, Tomasz Maciejewski and Ewa Sawicka
Diagnostics 2023, 13(13), 2225; https://doi.org/10.3390/diagnostics13132225 - 30 Jun 2023
Viewed by 1048
Abstract
This research analysed early neonatal outcomes of complex and simple gastroschisis following planned elective preterm delivery in relation to prenatal ultrasound assessment of bowel conditions. A retrospective study of 61 neonates with prenatal gastroschisis diagnosis, birth, and management at a single tertiary centre [...] Read more.
This research analysed early neonatal outcomes of complex and simple gastroschisis following planned elective preterm delivery in relation to prenatal ultrasound assessment of bowel conditions. A retrospective study of 61 neonates with prenatal gastroschisis diagnosis, birth, and management at a single tertiary centre from 2011 to 2021 showed a 96.72% survival rate with no intrauterine fatalities. Most cases (78.7%) were simple gastroschisis. Neonates with complex gastroschisis had longer hospital stays and time to full enteral feeding compared to those with simple gastroschisis—75.4 versus 35.1 days and 58.1 versus 24.1 days, respectively. A high concordance of 86.90% between the surgeon’s and perinatologist’s bowel condition assessments was achieved. The caesarean delivery protocol demonstrated safety, high survival rate, primary closure, and favourable outcomes compared to other reports. Prenatal ultrasound effectively evaluated bowel conditions and identified complex gastroschisis cases. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine—2nd Edition)
12 pages, 1042 KiB  
Article
Longitudinal Behavior of Left-Ventricular Strain in Fetal Growth Restriction
by Carla Domínguez-Gallardo, Nuria Ginjaume-García, Johana Ullmo, Antonio Fernández-Oliva, Juan Parra, Ana Vázquez, Mónica Cruz-Lemini and Elisa Llurba
Diagnostics 2023, 13(7), 1252; https://doi.org/10.3390/diagnostics13071252 - 27 Mar 2023
Cited by 1 | Viewed by 1319
Abstract
Fetal growth restriction (FGR) is associated with an increased risk of adverse outcomes resulting from adaptive cardiovascular changes in conditions of placental insufficiency, leading to cardiac deformation and dysfunction, which can be evaluated with 2D speckle tracking echocardiography (2D-STE). The aim of the [...] Read more.
Fetal growth restriction (FGR) is associated with an increased risk of adverse outcomes resulting from adaptive cardiovascular changes in conditions of placental insufficiency, leading to cardiac deformation and dysfunction, which can be evaluated with 2D speckle tracking echocardiography (2D-STE). The aim of the present study was to evaluate whether reduced fetal growth is associated with cardiac left-ventricle (LV) dysfunction, using 2D-STE software widely used in postnatal echocardiography. A prospective longitudinal cohort study was performed, and global (GLO) and segmental LV longitudinal strain was measured offline and compared between FGR and appropriate-for-gestational-age (AGA) fetuses throughout gestation. All cases of FGR fetuses were paired 1:2 to AGA fetuses, and linear mixed model analysis was performed to compare behavior differences between groups throughout pregnancy. Our study shows LV fetal longitudinal strain in FGR and AGA fetuses differed upon diagnosis and behaved differently throughout gestation. FGR fetuses had lower LV strain values, both global and segmental, in comparison to AGA, suggesting subclinical cardiac dysfunction. Our study provides more data regarding fetal cardiac function in cases of placental dysfunction, as well as highlights the potential use of 2D-STE in the follow-up of cardiac function in these fetuses. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine—2nd Edition)
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24 pages, 2774 KiB  
Article
Fetal Health Classification from Cardiotocograph for Both Stages of Labor—A Soft-Computing-Based Approach
by Sahana Das, Himadri Mukherjee, Kaushik Roy and Chanchal Kumar Saha
Diagnostics 2023, 13(5), 858; https://doi.org/10.3390/diagnostics13050858 - 23 Feb 2023
Cited by 4 | Viewed by 2507
Abstract
To date, cardiotocography (CTG) is the only non-invasive and cost-effective tool available for continuous monitoring of the fetal health. In spite of a marked growth in the automation of the CTG analysis, it still remains a challenging signal processing task. Complex and dynamic [...] Read more.
To date, cardiotocography (CTG) is the only non-invasive and cost-effective tool available for continuous monitoring of the fetal health. In spite of a marked growth in the automation of the CTG analysis, it still remains a challenging signal processing task. Complex and dynamic patterns of fetal heart are poorly interpreted. Particularly, the precise interpretation of the suspected cases is fairly low by both visual and automated methods. Also, the first and second stage of labor produce very different fetal heart rate (FHR) dynamics. Thus, a robust classification model takes both stages into consideration separately. In this work, the authors propose a machine-learning-based model, which was applied separately to both the stages of labor, using standard classifiers such as SVM, random forest (RF), multi-layer perceptron (MLP), and bagging to classify the CTG. The outcome was validated using the model performance measure, combined performance measure, and the ROC-AUC. Though AUC-ROC was sufficiently high for all the classifiers, the other parameters established a better performance by SVM and RF. For suspicious cases the accuracies of SVM and RF were 97.4% and 98%, respectively, whereas sensitivity was 96.4% and specificity was 98% approximately. In the second stage of labor the accuracies were 90.6% and 89.3% for SVM and RF, respectively. Limits of agreement for 95% between the manual annotation and the outcome of SVM and RF were (−0.05 to 0.01) and (−0.03 to 0.02). Henceforth, the proposed classification model is efficient and can be integrated into the automated decision support system. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine—2nd Edition)
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12 pages, 1083 KiB  
Article
The Impact of Coronavirus Disease 2019 on Maternal and Fetal Wellbeing in New Mexico
by Tiffany Emery, Kati Baillie, Orrin Myers, Hellen Ko and Jessie R. Maxwell
Diagnostics 2022, 12(11), 2856; https://doi.org/10.3390/diagnostics12112856 - 18 Nov 2022
Viewed by 1208
Abstract
Coronavirus disease 2019 (COVID-19) has been shown to affect the vasculature, including placental changes. Insults to the placenta, especially in the first and second trimester, can affect placental functionality with a resultant impact on fetal growth and wellbeing. Thus, we explored the relationship [...] Read more.
Coronavirus disease 2019 (COVID-19) has been shown to affect the vasculature, including placental changes. Insults to the placenta, especially in the first and second trimester, can affect placental functionality with a resultant impact on fetal growth and wellbeing. Thus, we explored the relationship between antenatally acquired maternal COVID-19 infection and neonatal birth characteristics. A retrospective chart review was completed using the University of New Mexico electronic medical record system. ICD-10 codes were used to identify individuals that had a positive pregnancy test and positive COVID-19 screening test between 1 March 2020 to 24 March 2021. Chi-square and nonparametric Wilcoxon analyses were used, with p < 0.05 considered significant. A total of 487 dyad charts was analyzed, with 76 (16%) individuals identified as being COVID-19-positive (CovPos) during pregnancy. CovPos mothers were significantly more likely to deliver via a cesarean section compared to CovNeg mothers (33% vs. 20%, p < 0.01). There was a significant difference in gestational age at delivery, with infants born to CovPos individuals born at an earlier gestational age than those born to CovNeg individuals (37.6 vs. 38.5 weeks; p < 0.01). Our findings showed differences in maternal and infant characteristics following COVID-19 infection during pregnancy. Additional investigations are required to further delineate these relationships with a focus on potential long-term impacts on the neonate. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine—2nd Edition)
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Review

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30 pages, 8674 KiB  
Review
Prenatal Diagnosis of Fetal Heart Failure
by Kasemsri Srisupundit, Suchaya Luewan and Theera Tongsong
Diagnostics 2023, 13(4), 779; https://doi.org/10.3390/diagnostics13040779 - 18 Feb 2023
Cited by 6 | Viewed by 5061
Abstract
Fetal heart failure (FHF) is a condition of inability of the fetal heart to deliver adequate blood flow for tissue perfusion in various organs, especially the brain, heart, liver and kidneys. FHF is associated with inadequate cardiac output, which is commonly encountered as [...] Read more.
Fetal heart failure (FHF) is a condition of inability of the fetal heart to deliver adequate blood flow for tissue perfusion in various organs, especially the brain, heart, liver and kidneys. FHF is associated with inadequate cardiac output, which is commonly encountered as the final outcome of several disorders and may lead to intrauterine fetal death or severe morbidity. Fetal echocardiography plays an important role in diagnosis of FHF as well as of the underlying causes. The main findings supporting the diagnosis of FHF include various signs of cardiac dysfunction, such as cardiomegaly, poor contractility, low cardiac output, increased central venous pressures, hydropic signs, and the findings of specific underlying disorders. This review will present a summary of the pathophysiology of fetal cardiac failure and practical points in fetal echocardiography for diagnosis of FHF, focusing on essential diagnostic techniques used in daily practice for evaluation of fetal cardiac function, such as myocardial performance index, arterial and systemic venous Doppler waveforms, shortening fraction, and cardiovascular profile score (CVPs), a combination of five echocardiographic markers indicative of fetal cardiovascular health. The common causes of FHF are reviewed and updated in detail, including fetal dysrhythmia, fetal anemia (e.g., alpha-thalassemia, parvovirus B19 infection, and twin anemia-polycythemia sequence), non-anemic volume load (e.g., twin-to-twin transfusion, arteriovenous malformations, and sacrococcygeal teratoma, etc.), increased afterload (intrauterine growth restriction and outflow tract obstruction, such as critical aortic stenosis), intrinsic myocardial disease (cardiomyopathies), congenital heart defects (Ebstein anomaly, hypoplastic heart, pulmonary stenosis with intact interventricular septum, etc.) and external cardiac compression. Understanding the pathophysiology and clinical courses of various etiologies of FHF can help physicians make prenatal diagnoses and serve as a guide for counseling, surveillance and management. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine—2nd Edition)
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16 pages, 311 KiB  
Review
Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up
by Barbara Scelsa
Diagnostics 2022, 12(12), 3083; https://doi.org/10.3390/diagnostics12123083 - 07 Dec 2022
Cited by 2 | Viewed by 1847
Abstract
Brain abnormalities detected in fetal life are being increasingly recognized. Child neurologists are often involved in fetal consultations, and specific fetal neurology training has been implemented in many countries. Pediatric neurologists are asked to examine the data available and to contribute to the [...] Read more.
Brain abnormalities detected in fetal life are being increasingly recognized. Child neurologists are often involved in fetal consultations, and specific fetal neurology training has been implemented in many countries. Pediatric neurologists are asked to examine the data available and to contribute to the definition of the long-term outcomes. Ventriculomegaly, posterior fossa malformations, and agenesis/dysgenesis of corpus callosum are among the most common reasons for antenatal neurological consultations. Fetuses with central nervous system and extra-CNS anomalies should ideally be managed in secondary/tertiary hospitals where obstetricians who are experts in fetal medicine and pediatric specialists are available. Obstetricians play a critical role in screening, performing detailed neurosonography, and referring to other specialists for additional investigations. Clinical geneticists are frequently asked to propose diagnostic tests and counsel complex fetal malformations whose phenotypes may differ from those during postnatal life. Advances in fetal MRI and genetic investigations can support the specialists involved in counseling. Nevertheless, data interpretation can be challenging, and it requires a high level of expertise in a multidisciplinary setting. Postnatally, child neurologists should be part of an integrated multidisciplinary follow-up, together with neonatologists and pediatricians. The neurodevelopmental outcomes should be assessed at least up to school age. Children should be evaluated with formal tests of their gross motor, cognitive, language, fine motor/visuo-perceptual skills, and their behavior. In this perspective, fetal neurology can be regarded as the beginning of a long journey which continues with a prolonged, structured follow-up, support to the families, and transition to adult life. A review of the most common conditions is presented, along with the long-term outcomes and a proposal of the neurodevelopmental follow-up of children with CNS malformation which are diagnosed in uterus. Full article
(This article belongs to the Special Issue Diagnosis and Management in Prenatal Medicine—2nd Edition)
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