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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Obstetrics & Gynecology".

Deadline for manuscript submissions: closed (20 March 2022) | Viewed by 8532

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Special Issue Editors

Dr. Mar Bennasar

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Guest Editor

BCNatal-Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), Barcelona, Spain
Interests: fetal medicine; fetal therapy and surgery; fetal echocardiography; congenital heart defects; fetal surgery; prenatal diagnosis; invasive procedures

Dr. Olga Gómez

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Guest Editor

BCNatal-Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), 08028 Barcelona, Spain
Interests: fetal echocardiography; congenital heart disease; fetal theraphy; fetal medicine; prenatal diagnosis

Special Issue Information

Dear Colleagues,

Prenatal diagnosis has developed widely in recent years, especially thanks to advances in fetal imaging and the incorporation of other techniques for fetal evaluation, such as 3D ultrasound or fetal MRI. Prenatal detection of fetal abnormalities enables prenatal multidisciplinary counselling and establishing measures for optimizing fetal surveillance and reducing associated morbidity and mortality. Specific guidelines and a number of original studies have been published through the years, helping to improve prenatal diagnosis and detection. However, there is still a proportion of fetal abnormalities that remain undiagnosed until postnatal evaluation and do not benefit from prenatal management.

Today, challenges in prenatal diagnosis concern not only diagnosis but also the identification of maternal, prenatal sonographic or environmental risk factors that correlate with postnatal outcome and prognosis, to better establish treatments and medical interventions and to reduce complications and improve long-term outcome.

This Special Issue aims to select original research papers and review articles that discuss the current state of the art, address existing knowledge gaps, and focus on improving the diagnosis and treatment of fetal malformations, as well as those improving prenatal prediction of postnatal evolution.

Dr. Mar Bennasar
Dr. Olga Gómez
Guest Editors

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Keywords

Prenatal diagnosis
Fetal malformation
Obstetric ultrasound
Fetal MRI
Fetal abnormalities
Chromosomal defects
Genetic syndromes
Screening in pregnancy
Pregnancy complications

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Published Papers (4 papers)

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Research

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17 pages, 5778 KiB

Open AccessArticle

Feasibility of 4D-Spatio Temporal Image Correlation (STIC) in the Comprehensive Assessment of the Fetal Heart Using FetalHQ^®

by Laura Nogué, Olga Gómez, Nora Izquierdo, Cristina Mula, Narcís Masoller, Josep M. Martínez, Eduard Gratacós, Greggory Devore, Fàtima Crispi and Mar Bennasar

J. Clin. Med. 2022, 11(5), 1414; https://doi.org/10.3390/jcm11051414 - 4 Mar 2022

Cited by 11 | Viewed by 3560

Abstract

Fetal Heart Quantification (FetalHQ^®) is a novel speckle tracking software that permits the study of global and regional ventricular shape and function from a 2D four-chamber-view loop. The 4D-Spatio Temporal Image Correlation (STIC) modality enables the offline analysis of optimized and perfectly aligned cardiac planes. We aimed to evaluate the feasibility and reproducibility of 4D-STIC speckle tracking echocardiography (STE) using FetalHQ^® and to compare it to 2D STE. We conducted a prospective study including 31 low-risk singleton pregnancies between 20 and 40 weeks of gestation. Four-chamber view volumes and 2D clips were acquired with an apex pointing at 45° and with a frame rate higher than 60 Hz. Morphometric and functional echocardiography was performed by FetalHQ^®. Intra- and interobserver reproducibility were evaluated by the intraclass correlation coefficient (ICC). Our results showed excellent reproducibility (ICC > 0.900) for morphometric evaluation (biventricular area, longitudinal and transverse diameters). Reproducibility was also good (ICC > 0.800) for functional evaluation (biventricular strain, Fractional Area Change, left ventricle volumes, ejection fraction and cardiac output). On the contrary, the study of the sphericity index and shortening fraction of the different ventricular segments showed lower reproducibility (ICC < 0.800). To conclude, 4D-STIC is feasible, reproducible and comparable to 2D echocardiography for the assessment of cardiac morphometry and function. Full article

(This article belongs to the Special Issue Prenatal Imaging and Diagnosis)

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10 pages, 1210 KiB

Open AccessArticle

Performance of Fetal Cardiac Volume Derived from VOCAL (Virtual Organ Computer-Aided AnaLysis) in Predicting Hemoglobin (Hb) Bart’s Disease

by Keooudone Thammavong, Suchaya Luewan and Theera Tongsong

J. Clin. Med. 2021, 10(20), 4651; https://doi.org/10.3390/jcm10204651 - 11 Oct 2021

Cited by 2 | Viewed by 1801

Abstract

Objective: To determine the performance of fetal cardiac volume (CV) in the detection of fetal Hb Bart’s disease among fetuses at risk at 18–22 weeks of gestation and to compare the performance with those of cardiothoracic diameter ratio (CTR) and middle cerebral artery peak systolic velocity (MCA-PSV). Methods: Fetuses at risk of Hb Bart’s disease between 18 and 22 weeks of gestation prospectively underwent echocardiography with acquisition of the volume datasets (VDS) of fetal heart, using 4D-cardiac STIC. Subsequently, off-line analysis was blindly performed to measure cardiac volume using the VOCAL technique. Results: A total of 502 fetuses at risk meeting the inclusion criteria were included in the analysis, consisting of 117 (23.3%) fetuses with Hb Bart’s disease and 385 (76.7%) unaffected fetuses. The mean (±SD) gestational age at the time of ultrasound examination was 19.70 ± 1.3 weeks. In predicting fetal Hb Bart’s disease, CV, using a cut-off Z-score of 1.7, had a sensitivity of 94.9% and specificity of 94.0%. The performance of CV was slightly better than that of CTR but very superior to that of MCA-PSV (areas under curve: 0.988, 0.974 and 0.862, respectively). Conclusions: Fetal CV has a very high performance in predicting fetal Hb Bart’s disease at mid-pregnancy, comparable with CTR and much better than MCA-PSV. Full article

(This article belongs to the Special Issue Prenatal Imaging and Diagnosis)

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15 pages, 1458 KiB

Open AccessArticle

Application of a Global Multiparameter Scoring System for the Prenatal Prediction of Coarctation of the Aorta

by Enery Gómez-Montes, Ignacio Herraiz García, David Escribano Abad, Jesús Rodríguez Calvo, Cecilia Villalaín González and Alberto Galindo Izquierdo

J. Clin. Med. 2021, 10(16), 3690; https://doi.org/10.3390/jcm10163690 - 20 Aug 2021

Cited by 7 | Viewed by 3921

Abstract

To assess prospectively the capability of our previously reported global multiparameter scoring system to predict coarctation of the aorta (CoAo) in fetuses with cardiac asymmetry, we applied and analyzed the performance of our scoring system in predicting postnatal CoAo in fetuses undergoing prenatal echocardiographic assessment because of cardiac asymmetry between 2011 and 2021, and we determined the cut-off points of the score with the best balance between specificity and sensitivity, and of maximum sensitivity and specificity. CoAo was confirmed in 39/179 newborns (21.8%). We found a significantly higher probability of CoAo in fetuses with CoAo than in cases without CoAo (84.2 ± 18.2% vs. 26.0 ± 28.6%, p < 0.001). The AUC of the ROC of the score was 0.93 (95% CI 0.89–0.97). The cut-off value with the best balance between specificity and sensitivity was a predicted risk of ≥53% (sensitivity 92.3% and specificity 80.0%). The cut-off point of maximum sensitivity was ≥35% (sensitivity 100% and specificity 72.9%), and that of maximum specificity was ≥96% (sensitivity 43.6% and specificity 96.4%). In none of the fetuses with a probability of CoAo < 35% was this condition confirmed after birth. This occurred in 102 fetuses in the whole study population (57%) and in 84 of the 111 in whom CoAo was suspected beyond 28 weeks (75.7%). This multiparameter score allows an adequate discrimination between fetuses without CoAo and those with CoAo, reducing the false positive diagnoses in cardiac asymmetry. Full article

(This article belongs to the Special Issue Prenatal Imaging and Diagnosis)

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Review

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14 pages, 1027 KiB

Open AccessReview

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis

by Montse Pauta, Raigam Jafet Martinez-Portilla and Antoni Borrell

J. Clin. Med. 2021, 10(20), 4739; https://doi.org/10.3390/jcm10204739 - 15 Oct 2021

Cited by 8 | Viewed by 2233

Abstract

To determine the diagnostic yield of exome sequencing (ES), a microarray analysis was carried out of fetuses with recurrent fetal structural anomalies (with similar anomalies in consecutive pregnancies). This is a systematic review conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria. The selected studies describing ES in fetuses with recurrent fetal malformation were assessed using the Standards for Reporting of Diagnostic Accuracy Studies (STARD) criteria for risk of bias. Incidence was used as the pooled effect size by single-proportion analysis using random-effects modeling (weighted by inverse of variance). We identified nine studies on ES diagnostic yield that included 140 fetuses with recurrent structural anomalies. A pathogenic or likely pathogenic variant was found in 57 fetuses, resulting in a 40% (95%CI: 26% to 54%) incremental performance pool of ES. As expected, the vast majority (86%: 36/42) of the newly identified diseases had a recessive inheritance pattern, and among these, 42% (15/36) of variants were found in homozygosity. Meckel syndrome was the monogenic disease most frequently found, although the genes involved were diverse. The ES diagnostic yield in pregnancies with recurrent fetal structural anomalies was 40% (57/140). Homozygous disease-causing variants were found in 36% (15/57) of the newly identified monogenic disorders. Full article

(This article belongs to the Special Issue Prenatal Imaging and Diagnosis)

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