Update on Prenatal Diagnosis and Maternal Fetal Medicine: Volume II

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 April 2024) | Viewed by 1671

Special Issue Editor


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

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. Journal of Clinical Medicine 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

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

Published Papers (2 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Research

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
Viewed by 704
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: Volume II)
Show Figures

Graphical abstract

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
Viewed by 755
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: Volume II)
Show Figures

Graphical abstract

Back to TopTop