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Update on Prenatal Diagnosis and Maternal Fetal Medicine: 2nd Edition
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Update on Prenatal Diagnosis and Maternal Fetal Medicine: 2nd Edition

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

Deadline for manuscript submissions: 20 June 2025 | Viewed by 5819

Special Issue Editor

Prof. Dr. Roland Axt-Fliedner

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, Division of Prenatal Medicine, University Hospital UKGM, Justus-Liebig University, 35392 Giessen, Germany
Interests: fetal echocardiography; detailed anomaly scan; first trimester screening; genetic testing; fetal therapy; advanced imaging modalities
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This is the second edition of the Special Issue ‘Updates on Prenatal Diagnosis and Maternal Fetal Medicine’ (https://www.mdpi.com/journal/jcm/special_issues/Prenatal_Maternal_Fetal).

Hemolytic disease of the fetus and newborn as well as alloimmunthrombocytopenia in the fetus are important issues in maternofetal medicine. Studies in this domain are continually evolving and the emerging therapeutic options seem promising. Moreover, congenital heart disease is the single most frequent congenital anomaly. The focus of analyses has now shifted from solely diagnostics to the evaluation of myocardial fetal function and transmission into the newborns. We aim to present the recent research works pertaining to these aforemntioned fields in this Special Issue.

Additionally, fetal therapy, with varying techniques, for open spina bifida has been established at distinguished centers. We thus endeavour to highlight the latest research results on indications, and maternal and fetal outcomes in this Speical Issue.

Prof. Dr. Roland Axt-Fliedner
Guest Editor

Manuscript Submission Information

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Keywords

  • hemolytic disease
  • maternofetal medicine
  • congenital heart disease
  • fetal therapy
  • spina bifida

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Published Papers (5 papers)

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Research

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7 pages, 806 KiB  
Article
Fetal Isolated Single Umbilical Artery (ISUA) and Its Role as a Marker of Adverse Perinatal Outcomes
by Ana María Cubo, Alicia Moreno, Mercedes Sánchez-Barba, María Ángeles Cabrero, Tatiana Costas, María O Rodríguez, María Estrella Hernández Hernández, Polán Ordás, Ana Villalba Yarza, Francisco Javier Goenaga and María Victoria Lapresa-Alcalde
J. Clin. Med. 2024, 13(24), 7749; https://doi.org/10.3390/jcm13247749 - 18 Dec 2024
Viewed by 485
Abstract
Single umbilical artery (SUA) is considered an ultrasound marker of anomalies. Although it may be present in about 0.5% to 6% of normal pregnancies, it has been linked with an increased risk of fetal growth restriction (FGR), as well as cardiac, genitourinary and [...] Read more.
Single umbilical artery (SUA) is considered an ultrasound marker of anomalies. Although it may be present in about 0.5% to 6% of normal pregnancies, it has been linked with an increased risk of fetal growth restriction (FGR), as well as cardiac, genitourinary and gastrointestinal malformations and chromosomal anomalies such as trisomies 21 and 18. Objectives: This study aims to evaluate whether the presence of isolated SUA (ISUA) is associated with adverse perinatal outcomes. Methods: A descriptive, observational and retrospective study was conducted, analyzing 1234 pregnancies (1157 normal gestations with a three-vessel cord and 77 cases of ISUA). Results: ISUA was associated with a lower gestational age (38 vs. 39 weeks) and a lower birth weight (3013 vs. 3183 g) when performing a univariate analysis. However, after performing a multivariate analysis adjusted for maternal age and BMI, the association between single umbilical artery (SUA) and lower birth weight could not be proven. No significant differences were found in the rate of malformations, genetic disorders, Apgar score, pH at birth or admissions in the neonatal ICU. Conclusions: ISUA is associated with a lower birth weight but does not increase the risk of prematurity or low-birth-weight-related neonatal admissions. Additionally, ISUA is not significantly associated with a lower gestational age, genetic disorders, fetal malformations, worse Apgar scores or lower pH values at birth. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine: 2nd Edition)
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17 pages, 1654 KiB  
Article
Prenatal Diagnosis, Course and Outcome of Patients with Truncus Arteriosus Communis
by Aline Wolter, Annika Haessig, Andrii Kurkevych, Jan Weichert, Stephan Bosselmann, Gunther Mielke, Ivonne Alexandra Bedei, Johanna Schenk, Ellydda Widriani and Roland Axt-Fliedner
J. Clin. Med. 2024, 13(15), 4465; https://doi.org/10.3390/jcm13154465 - 30 Jul 2024
Cited by 1 | Viewed by 899
Abstract
Background: The objective of our study was to assess the prenatal course, associated anomalies and postnatal outcome and the predictive value of various prenatal parameters for survival in prenatally diagnosed cases of truncus arteriosus communis (TAC). Methods: We evaluated cases from [...] Read more.
Background: The objective of our study was to assess the prenatal course, associated anomalies and postnatal outcome and the predictive value of various prenatal parameters for survival in prenatally diagnosed cases of truncus arteriosus communis (TAC). Methods: We evaluated cases from four centers between 2008 and 2021. Results: In 37/47 cases (78.7%), classification into a Van Praagh sbtype was possible, most had TAC type A1 (18/37 = 48.6%). In 33/47 (70.2%) with available valve details on common trunk valve, most presented with tricuspid valves (13/33 = 39.4%). In the overall sample, 14/47 (29.8%) had relevant insufficiency, and 8/47 (17%) had stenosis. In total, 37/47 (78.7%) underwent karyotyping, with 15/37 (40.5%) showing abnormal results, mainly 22q11.2 microdeletion (9/37 = 24.3%). Overall, 17/47 (36.2%) had additional extracardiac anomalies (17/47 = 36.2%). Additional intracardiac anomalies were present in 30/47 (63.8%), or 32/47 (68.1%) if coronary anomalies were included. Four (8.5%) had major defects. Two (4.3%) intrauterine deaths occurred, in 10 (21.3%) cases, the parents opted for termination, predominantly in non-isolated cases (8/10 = 80.0%). A total of 35/47 (74.5%) were born alive at 39 (35–41) weeks. Three (8.6%) pre-surgical deaths occurred in non-isolated cases. In 32/35 (91.4%), correction surgery was performed. The postoperative survival rate was 84.4% (27/32) over a median follow-up of 51.5 months. Initial intervention was performed 16 (1–71) days postpartum, and 22/32 (68.8%) required re-intervention. Regarding prenatal outcome-predicting parameters, no significant differences were identified between the survivor and non-survivor groups. Conclusions: There exist limited outcome data for TAC. To our knowledge, this is the largest multicenter, prenatal cohort with an intention-to-treat survival rate of almost 85%. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine: 2nd Edition)
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7 pages, 221 KiB  
Article
Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings
by Antoni Borrell, Elena Ordoñez, Montse Pauta, Juan Otaño, Fernanda Paz-y-Miño, Mafalda de Almeida, Miriam León and Vincenzo Cirigliano
J. Clin. Med. 2024, 13(1), 181; https://doi.org/10.3390/jcm13010181 - 28 Dec 2023
Cited by 1 | Viewed by 1293
Abstract
Objectives: To evaluate the use of Exome Sequencing (ES) for the detection of genome-wide Copy Number Variants (CNVs) and the frequency of SNVs-InDels in selected genes related to developmental disorders in a cohort of consecutive pregnancies undergoing invasive diagnostic procedures for minor or [...] Read more.
Objectives: To evaluate the use of Exome Sequencing (ES) for the detection of genome-wide Copy Number Variants (CNVs) and the frequency of SNVs-InDels in selected genes related to developmental disorders in a cohort of consecutive pregnancies undergoing invasive diagnostic procedures for minor or simple ultrasound findings with no indication of ES. Methods: Women undergoing invasive diagnostic testing (chorionic villus sampling or amniocentesis) for QF-PCR and chromosomal microarray analysis (CMA) due to prenatal ultrasound findings without an indication for ES were selected over a five-month period (May–September 2021). ES was performed to compare the efficiency of genome-wide CNV detection against CMA analysis and to detect monogenic disorders. Virtual gene panels were selected to target genes related to ultrasound findings and bioinformatic analysis was performed, prioritizing variants based on the corresponding HPO terms. The broad Fetal Gene panel for developmental disorders developed by the PAGE group was also included in the analysis. Results: A total of 59 out of 61 women consented to participate in this study. There were 36 isolated major fetal anomalies, 11 aneuploidy markers, 6 minor fetal anomalies, 4 multiple anomalies, and 2 other ultrasound signs. Following QF-PCR analysis, two uncultured samples were excluded from this study, and six (10%) common chromosome aneuploidies were detected. In the remaining 51 cases, no pathogenic CNVs were detected at CMA, nor were any pathogenic variants observed in gene panels only targeting the ultrasound indications. Two (3.9%) monogenic diseases, apparently unrelated to the fetal phenotype, were detected: blepharo-cheilo-odontic syndrome (spina bifida) and Duchenne muscular dystrophy (pyelocaliceal dilation). Conclusions: In our series of pregnancies with ultrasound findings, common aneuploidies were the only chromosomal abnormalities present, which were detected in 10% of cases. ES CNV analysis was concordant with CMA results in all cases. No additional findings were provided by only targeting selected genes based on ultrasound findings. Broadening the analysis to a larger number of genes involved in fetal developmental disorders revealed monogenic diseases in 3.9% of cases, which, although apparently not directly related to the indications, were clinically relevant. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine: 2nd Edition)
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12 pages, 1082 KiB  
Article
Biweekly Versus Monthly Hyperimmune Globulin Therapy for Primary Cytomegalovirus Infection in Pregnancy
by Nawa Schirwani-Hartl, Pilar Palmrich, Christina Haberl, Nicole Perkmann-Nagele, Herbert Kiss, Angelika Berger, Judith Rittenschober-Böhm, Gregor Kasprian, Patric Kienast, Asma Khalil and Julia Binder
J. Clin. Med. 2023, 12(21), 6776; https://doi.org/10.3390/jcm12216776 - 26 Oct 2023
Cited by 4 | Viewed by 1274
Abstract
Primary cytomegalovirus (CMV) infection during pregnancy is associated with an increased risk of congenital CMV (cCMV). Hyperimmune globulin (HIG) therapy has been proposed as a potential prophylaxis to reduce maternal–fetal transmission. Data on whether the administration of HIG every 2 weeks offers benefits [...] Read more.
Primary cytomegalovirus (CMV) infection during pregnancy is associated with an increased risk of congenital CMV (cCMV). Hyperimmune globulin (HIG) therapy has been proposed as a potential prophylaxis to reduce maternal–fetal transmission. Data on whether the administration of HIG every 2 weeks offers benefits over HIG administration every 4 weeks are lacking. This was a retrospective analysis including pregnant women with primary CMV infection diagnosed in the first or early second trimester between 2010 and 2022 treated with HIG every 4 weeks (300 IE HIG per kg) or every 2 weeks (200 IE HIG per kg), respectively. In total, 36 women (4 weeks: n = 26; 2 weeks: n = 10) and 39 newborns (4 weeks: n = 29; 2 weeks: n = 10) were included. The median gestational age at the first HIG administration was 13.1 weeks. There was no significant difference in the cCMV rates between the women who received HIG every 4 versus every 2 weeks (n = 8/24 [33.3%] vs. 3/10 [30.0%]; p = 0.850). An abnormal fetal ultrasound was present in three fetuses and fetal magnetic resonance imaging (MRI) anomalies in four fetuses were related to cCMV infection, with no significant difference in the frequency between the two groups. A larger study will be needed to determine whether HIG administration every 2 instead of every 4 weeks improves the maternal–fetal transmission rates. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine: 2nd Edition)
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Review

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20 pages, 309 KiB  
Review
Advancements in Artificial Intelligence for Fetal Neurosonography: A Comprehensive Review
by Jan Weichert and Jann Lennard Scharf
J. Clin. Med. 2024, 13(18), 5626; https://doi.org/10.3390/jcm13185626 - 22 Sep 2024
Viewed by 1293
Abstract
The detailed sonographic assessment of the fetal neuroanatomy plays a crucial role in prenatal diagnosis, providing valuable insights into timely, well-coordinated fetal brain development and detecting even subtle anomalies that may impact neurodevelopmental outcomes. With recent advancements in artificial intelligence (AI) in general [...] Read more.
The detailed sonographic assessment of the fetal neuroanatomy plays a crucial role in prenatal diagnosis, providing valuable insights into timely, well-coordinated fetal brain development and detecting even subtle anomalies that may impact neurodevelopmental outcomes. With recent advancements in artificial intelligence (AI) in general and medical imaging in particular, there has been growing interest in leveraging AI techniques to enhance the accuracy, efficiency, and clinical utility of fetal neurosonography. The paramount objective of this focusing review is to discuss the latest developments in AI applications in this field, focusing on image analysis, the automation of measurements, prediction models of neurodevelopmental outcomes, visualization techniques, and their integration into clinical routine. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine: 2nd Edition)
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