Journal of Clinical Medicine

Editorial

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3 pages, 165 KiB

Open AccessEditorial

Recent Advances in the Diagnosis and Management of Congenital Heart Defects

by Vlasta Fesslova and Paolo Ivo Cavoretto

J. Clin. Med. 2022, 11(19), 5534; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm11195534 - 21 Sep 2022

Cited by 1 | Viewed by 870

Abstract

The prenatal assessment of congenital heart defects (CHD) and related fetal and maternal management is very challenging and delicate [...] Full article

(This article belongs to the Special Issue Prenatal Diagnosis and Management of Congenital Heart Defects)

Research

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9 pages, 2138 KiB

Open AccessArticle

The Value of Fetal Heart Evaluation in Fetuses with Rare Congenital Lymphangiomas: A Cohort Study from a Single Tertiary Center across Two Decades (Years 1999–2020)

by Paulina Kordjalik, Bartosz Szmyd, Filip Franciszek Karuga, Gabriela Daszkiewicz, Iwona Strzelecka and Maria Respondek-Liberska

J. Clin. Med. 2022, 11(4), 1035; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm11041035 - 16 Feb 2022

Cited by 4 | Viewed by 2369

Abstract

Lymphangiomas are uncommon, benign (from a histopathology viewpoint) malformations of the lymphatic system with thin-walled vessels; however, these tumors may be dangerous for fetal or neonatal life. They are observed in 1:6000 newborns at birth and in 1:750 spontaneous abortions. We aimed to [...] Read more.

Lymphangiomas are uncommon, benign (from a histopathology viewpoint) malformations of the lymphatic system with thin-walled vessels; however, these tumors may be dangerous for fetal or neonatal life. They are observed in 1:6000 newborns at birth and in 1:750 spontaneous abortions. We aimed to investigate the role of fetal echocardiography in the prognosis of lymphangioma. Selected data of 19,836 pregnant women studied between 1999 and 2020 were retrospectively analyzed. In total, 32 cases of lymphangioma meeting the following criteria were further analyzed: (1) ultrasound availability from the 1st trimester of pregnancy and (2) nuchal translucency ≤ 2.5 mm. Echocardiographic findings, karyotype, size, and location of the possible lesion were juxtaposed with the clinical follow-up. The statistical analysis was performed using Statistica 13.1 software (StatSoft, Tulsa, OK, USA). Lymphangioma in the analyzed material coexisted with abnormalities in fetal echo in 78% (n = 25) of cases, especially: heart defect in 50% (n = 16) and with normal heart structure with functional changes in 28% (n = 9). Karyotype was available in 50% of the analyzed cases (n = 16). Normal cytogenetic results were observed in 62.5% (n = 10) of cases. In the remaining cases, the following were observed: Turner Syndrome: 25% (n = 4) and Down Syndrome 12.5% (n = 2). The rate of alive newborns was significantly higher among fetuses with isolated lymphangioma in comparison to those with lymphangioma associated with abnormal ECHO examination: 38.46% (n = 5) vs. 15.38% (n = 2; p = 0.037). Abnormal ECHO exam was a poor prognostic sign for fetuses with lymphangioma; therefore, we think it is important to refer these cases for detailed echocardiography in tertiary centers. Moreover, it should be highlighted that in all lymphangioma cases there was an indication to perform the karyotype assessment, as there was a high risk of aneuploidy. Full article

(This article belongs to the Special Issue Prenatal Diagnosis and Management of Congenital Heart Defects)

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12 pages, 475 KiB

Open AccessArticle

Prevalence of Congenital Heart Defects in Pregnancies Conceived by Assisted Reproductive Technology: A Cohort Study

by Alessandro Galdini, Vlasta M. E. Fesslova, Gerarda Gaeta, Massimo Candiani, Mirko Pozzoni, Carmelina Chiarello and Paolo Ivo Cavoretto

J. Clin. Med. 2021, 10(22), 5363; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm10225363 - 18 Nov 2021

Cited by 13 | Viewed by 2212

Abstract

Background and aim of the study: Pregnancies obtained by assisted reproductive technology (ART) are associated with an increased risk of complications and congenital anomalies, particularly congenital heart defects (CHDs). Therefore, our aim is to evaluate, retrospectively, the prevalence of CHD in ART pregnancies [...] Read more.

Background and aim of the study: Pregnancies obtained by assisted reproductive technology (ART) are associated with an increased risk of complications and congenital anomalies, particularly congenital heart defects (CHDs). Therefore, our aim is to evaluate, retrospectively, the prevalence of CHD in ART pregnancies in our two centers and analyze their characteristics and outcomes. Methods: Observational study including fetuses conceived by ART referred between June 2011 and September 2020 and undergoing a fetal cardiac ultrasound scan. Cases with genetic, chromosomal abnormalities or extracardiac malformations were excluded. Population included 1511 pregnancies, which consisted of 269 twins and 1242 singletons, 547 IVF (in vitro fertilization), 773 ICSI (intracytoplasmic sperm injection) and 191 oocyte donations (OD). Results: CHDs were found in 29 fetuses, with an overall prevalence of 1.92% (29/1511), 1.85% (23/1242) in singletons and 2.23% in twins (6/269). Thirteen were IVF, eight ICSI and eight OD cases, with a greater risk of CHD after IVF and OD (IVF: 13/29 (44.8%)—one twin; ICSI: 8/29 (27.6%)—three twins); 22 had major and 7 minor defects. Two pregnancies with a hypoplastic left heart were terminated; the majority of live-born cases needed surgery. Three babies died (two post-surgery, one had a late death). Conclusions: Our data show an increased prevalence of CHD after ART with a heterogeneous spectrum of diagnoses, mainly major defects. Full article

(This article belongs to the Special Issue Prenatal Diagnosis and Management of Congenital Heart Defects)

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9 pages, 746 KiB

Open AccessArticle

Fetal Cardiac Services during the COVID-19 Pandemic: How Does It Affect Parental Counseling?

by Alexander Kovacevic, Stefan Bär, Sebastian Starystach, Michael Elsässer, Thomas van der Locht, Aida Mohammadi Motlagh, Eva Ostermayer, Renate Oberhoffer-Fritz, Peter Ewert, Matthias Gorenflo and Annette Wacker-Gussmann

J. Clin. Med. 2021, 10(15), 3423; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm10153423 - 31 Jul 2021

Cited by 4 | Viewed by 1758

Abstract

The COVID-19 pandemic impacts health care providers in multiple ways, even specialties that do not seem to be affected primarily, such as fetal cardiac services. We aimed to assess the effects on parental counseling for fetal congenital heart disease (CHD). In this multicenter [...] Read more.

The COVID-19 pandemic impacts health care providers in multiple ways, even specialties that do not seem to be affected primarily, such as fetal cardiac services. We aimed to assess the effects on parental counseling for fetal congenital heart disease (CHD). In this multicenter study, we used a validated questionnaire. Parents were recruited from four national tertiary medical care centers (n = 226); n = 169 had been counseled before and n = 57 during the pandemic. Overall counseling success including its dimensions did not differ between the two groups (p = n.s.). However, by applying the sorrow scale, we could demonstrate that parents counseled during the pandemic were significantly more concerned (p = 0.025) and unsure (p = 0.044) about their child’s diagnosis, therapy and outcome. Furthermore, parents expressed a significantly increased need for written and/or online information on fetal heart disease (p = 0.034). Other modifiers did not affect counseling success (p = n.s.). We demonstrate that the COVID-19 pandemic impacts effectiveness of parental counseling for fetal CHD, possibly by altering parental perceptions. This needs to be taken into consideration when counseling. Implementing alternative and innovative approaches (e.g., online conference or virtual reality tools) may aid in facilitating high-quality services in critical times such as in the present pandemic. Full article

(This article belongs to the Special Issue Prenatal Diagnosis and Management of Congenital Heart Defects)

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14 pages, 8079 KiB

Open AccessArticle

Seasonality of Hypoplastic Left Heart Syndrome and Single Ventricle Heart in Poland in the Context of Air Pollution

by Iwona Strzelecka, Małgorzata Biedrzycka, Filip Franciszek Karuga, Bartosz Szmyd, Katarzyna Batarowicz and Maria Respondek-Liberska

J. Clin. Med. 2021, 10(15), 3207; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm10153207 - 21 Jul 2021

Cited by 5 | Viewed by 2410

Abstract

Hypoplastic left heart syndrome (HLHS) and single ventricle (SV) remain a significant cause of cardiac deaths occurring in the first week of life. Their pathogenesis and seasonal frequency are still unknown. Therefore, we attempt to look at the genesis of the HLHS and [...] Read more.

Hypoplastic left heart syndrome (HLHS) and single ventricle (SV) remain a significant cause of cardiac deaths occurring in the first week of life. Their pathogenesis and seasonal frequency are still unknown. Therefore, we attempt to look at the genesis of the HLHS and SV in the context of territorial distribution as well as seasonality. A total of 193 fetuses diagnosed with HLHS and 92 with SV were selected. The frequency was analyzed depending on the year, calendar month, quarter and season (fall-winter vs. spring-summer). The spatial distribution of HLHS and SV in Poland was analyzed. We observed a statistically significant overrepresentation of HLHS formation frequency in March: 27 (14.00%) in comparison to a monthly median of 15 (IQR: 13.75–16.25; p = 0.039), as well as a significantly higher frequency of HLHS in 2007−2009: 65 cases (33.68%) in comparison to the annual mean of 13.79 ± 6.36 (p < 0.001). We noted a higher frequency of SV among parous with the last menstrual period reported in the fall/winter season of 58 vs. 34 in the spring/summer season (p = 0.014). The performed analysis also revealed significant SV overrepresentation in 2008: 11 cases (12.00%) in comparison to the annual mean of 6.57 ± 2.71 (p = 0.016). Every single case of HLHS was observed when the concentration of benzo(a)pyrene and/or PM10 exceeded the acceptable/target level. Our research indicates that both the season and the level of pollution are significant factors affecting the health of parous women and their offspring. The reason why HLHS and SV develop more frequently at certain times of the year remains unclear, therefore research on this topic should be continued, as well as on the effects of PM10 and benzo(a)pyrene exposure. Full article

(This article belongs to the Special Issue Prenatal Diagnosis and Management of Congenital Heart Defects)

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9 pages, 968 KiB

Open AccessArticle

Ultrasound Patterns in the First Trimester Diagnosis of Congenital Heart Disease

by Catalin G. Herghelegiu, Anca Maria Panaitescu, Simona Duta, Ana Maria Vayna, Anca Marina Ciobanu, Cristian Bulescu, Raluca Gabriela Ioan, Adrian Neacsu, Nicolae Gica and Alina Veduta

J. Clin. Med. 2021, 10(15), 3206; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm10153206 - 21 Jul 2021

Cited by 7 | Viewed by 2815

Abstract

Congenital heart disease (CHD) is the most common birth defect, with a reported prevalence of 5–12 per 1000 live births. Very recently, the American Institute of Ultrasound in Medicine published a guideline recommending the use of the four-chamber and the three-vessel and trachea [...] Read more.

Congenital heart disease (CHD) is the most common birth defect, with a reported prevalence of 5–12 per 1000 live births. Very recently, the American Institute of Ultrasound in Medicine published a guideline recommending the use of the four-chamber and the three-vessel and trachea views to screen for CHD in the first trimester of pregnancy. Our aim is to present abnormal image patterns that are seen in the four-chamber, three-vessel, and trachea views of the fetal heart in the first trimester and to describe their association with specific CHD types. We used a total of 29 cases of CHD from the archives of Filantropia Hospital and the Maternal and Child Health Institute (INSMC) fetal medicine units. We selected cases with a clear and well-documented diagnosis of the CHD type. We identified a series of repeating color doppler flow patterns seen in the four-chamber, three-vessel, and trachea views of the studied cases. Our observations could be developed into a diagnosis algorithm to orientate the examiner to the most likely type of CHD in individual cases. Full article

(This article belongs to the Special Issue Prenatal Diagnosis and Management of Congenital Heart Defects)

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Review

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17 pages, 1483 KiB

Open AccessReview

Prenatal Diagnosis and Postnatal Outcomes of Left Brachiocephalic Vein Abnormalities: Systematic Review

by Gerarda Gaeta, Vlasta Fesslova, Roberta Villanacci, Danila Morano, Massimo Candiani, Mirko Pozzoni, Margherita Papale, Silvia Lina Spinillo, Carmelina Chiarello and Paolo Ivo Cavoretto

J. Clin. Med. 2022, 11(7), 1805; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm11071805 - 24 Mar 2022

Cited by 5 | Viewed by 1959

Abstract

Abnormalities of the left brachiocephalic vein (LBCVA) are rare and poorly studied prenatally. An association with congenital heart defects (CHD), extracardiac and genetic abnormalities was described. The aim of our study was to estimate the rate and summarize the available evidence concerning prenatal [...] Read more.

Abnormalities of the left brachiocephalic vein (LBCVA) are rare and poorly studied prenatally. An association with congenital heart defects (CHD), extracardiac and genetic abnormalities was described. The aim of our study was to estimate the rate and summarize the available evidence concerning prenatal diagnosis, associated anomalies, and outcomes of these anomalies. A systematic literature review was carried out selecting studies reporting on prenatal diagnosis of LBCVA, including unpublished cases from our experience. Frequencies were pooled from cohort studies to calculate prenatal incidence. Pooled proportions were obtained from all the studies including rates of associated CHD, extracardiac or genetic abnormalities and neonatal outcomes. The search resulted in the selection of 16 studies with 311 cases of LBCVA, with an incidence of 0.4% from six cohort studies. CHD occurred in 235/311 (75.6%) fetuses: 23 (7.4%) were major in cases of double, retroesophageal or subaortic course and 212 (68.2%) were minor in cases of absence (always associated with a persistent left superior vena cava) or intrathymic course. Data on other associated outcomes were scarce showing rare extracardiac anomalies (3.5%), rare genetic abnormalities (RASopathies and microdeletions associated with the retroesophageal course), and neonatal outcomes favorable in most cases, particularly in intrathymic forms. Full article

(This article belongs to the Special Issue Prenatal Diagnosis and Management of Congenital Heart Defects)

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10 pages, 872 KiB

Open AccessReview

Postmortem Micro-CT of Human Fetal Heart—A Systematic Literature Review

by Camilla Sandrini, Simona Boito, Claudio M. Lombardi and Sophie Lombardi

J. Clin. Med. 2021, 10(20), 4726; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm10204726 - 15 Oct 2021

Cited by 8 | Viewed by 1869

Abstract

Micro-computed tomography (CT) is a non-invasive alternative to conventional macroscopic dissection for the evaluation of human fetal cardiac anatomy. This paper aims to systematically review the literature regarding the use of micro-CT to examine human fetal hearts, to illustrate its educational and research [...] Read more.

Micro-computed tomography (CT) is a non-invasive alternative to conventional macroscopic dissection for the evaluation of human fetal cardiac anatomy. This paper aims to systematically review the literature regarding the use of micro-CT to examine human fetal hearts, to illustrate its educational and research implications and to explain its possible directions for the future. A systematic literature review was conducted following the PRISMA statement to identify publications concerning micro-CT applications for the isolated human fetal heart. The search strategy identified nine eligible studies. Micro-CT is technically feasible for postmortem examination of the human fetal heart coming from early and late termination of pregnancy. It reaches high diagnostic accuracy, and it seems to perform better than autopsy in small samples or in the case of early termination of pregnancy. Applications derived from micro-CT allow multiple off-time evaluations and interdisciplinary comparisons for educational purposes and research perspectives in biological and bioengineering domains. Full article

(This article belongs to the Special Issue Prenatal Diagnosis and Management of Congenital Heart Defects)

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22 pages, 2012 KiB

Open AccessReview

Treatment of Fetal Arrhythmias

by Alina Veduta, Anca Maria Panaitescu, Anca Marina Ciobanu, Diana Neculcea, Mihaela Roxana Popescu, Gheorghe Peltecu and Paolo Cavoretto

J. Clin. Med. 2021, 10(11), 2510; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm10112510 - 06 Jun 2021

Cited by 17 | Viewed by 7367

Abstract

Fetal arrhythmias are mostly benign and transient. However, some of them are associated with structural defects or can cause heart failure, fetal hydrops, and can lead to intrauterine death. The analysis of fetal heart rhythm is based on ultrasound (M-mode and Doppler echocardiography). [...] Read more.

Fetal arrhythmias are mostly benign and transient. However, some of them are associated with structural defects or can cause heart failure, fetal hydrops, and can lead to intrauterine death. The analysis of fetal heart rhythm is based on ultrasound (M-mode and Doppler echocardiography). Irregular rhythm due to atrial ectopic beats is the most common type of fetal arrhythmia and is generally benign. Tachyarrhythmias are diagnosed when the fetal heart rate is persistently above 180 beats per minute (bpm). The most common fetal tachyarrhythmias are paroxysmal supraventricular tachycardia and atrial flutter. Most fetal tachycardias can be terminated or controlled by transplacental or direct administration of anti-arrhythmic drugs. Fetal bradycardia is diagnosed when the fetal heart rate is slower than 110 bpm. Persistent bradycardia outside labor or in the absence of placental pathology is mostly due to atrioventricular (AV) block. Approximately half of fetal heart blocks are in cases with structural heart defects, and AV block in cases with structurally normal heart is often caused by maternal anti-Ro/SSA antibodies. The efficacy of prenatal treatment for fetal AV block is limited. Our review aims to provide a practical guide for the diagnosis and management of common fetal arrythmias, from the joint perspective of the fetal medicine specialist and the cardiologist. Full article

(This article belongs to the Special Issue Prenatal Diagnosis and Management of Congenital Heart Defects)

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