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Advances in Prenatal Diagnosis and Maternal Fetal Medicine
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Advances in Prenatal Diagnosis and Maternal Fetal Medicine

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

Deadline for manuscript submissions: 30 April 2025 | Viewed by 5716

Special Issue Editors

Dr. Martina Derme

E-Mail Website
Guest Editor
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Roma, Italy
Interests: obstetric delivery; gynaecological surgery; ultrasound imaging; prenatal diagnosis; fetal abnormalities
Dr. Antonella Giancotti

E-Mail Website
Guest Editor
Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, Roma, Italy
Interests: prenatal diagnosis; perinatal medicine; obstetric ultrasound; fetal abnormalities; multiple pregnancies

Special Issue Information

Dear Colleagues,

Advanced ultrasonography can be applied from the beginning of intrauterine fetal life. Prenatal diagnosis and maternal–fetal medicine are rapidly evolving. New imaging modalities and laboratory methodologies have allowed us to diagnose maternal–fetal pathologies early and therefore provide rapid treatment.

In this Special Issue, we have assembled a collection of articles from experts in maternal–fetal medicine to highlight how advances in prenatal ultrasound have caused a revolution in screening and diagnosis. Our objective is to provide an overview of the latest results achieved in this field. The spectrum of topics ranges from fetal diagnosis to genetic testing modalities and maternal–fetal medicine.

Dr. Martina Derme
Dr. Antonella Giancotti
Guest Editors

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

  • ultrasound imaging
  • prenatal diagnosis
  • fetal abnormalities
  • genetic testing
  • obstetric delivery

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Published Papers (5 papers)

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Research

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9 pages, 459 KiB  
Article
Circulating Cell-Free Mitochondrial DNA as a Novel Biomarker for Intra-Amniotic Infection in Obstetrics: A Pilot Trial
by Sebastian Zeiner, Peter Wohlrab, Ingo Rosicky, Regina Patricia Schukro, Klaus Ulrich Klein, Johann Wojta, Walter Speidl, Herbert Kiss and Dana Anaïs Muin
J. Clin. Med. 2024, 13(16), 4616; https://doi.org/10.3390/jcm13164616 - 7 Aug 2024
Viewed by 965
Abstract
Background/Objectives: Intra-amniotic infection (IAI) is a rare but serious condition with potential complications such as preterm labor and intrauterine fetal death. Diagnosing IAI is challenging due to varied clinical signs. Oxidative stress and mitochondrial dysfunction have been hypothesized to evolve around IAI. [...] Read more.
Background/Objectives: Intra-amniotic infection (IAI) is a rare but serious condition with potential complications such as preterm labor and intrauterine fetal death. Diagnosing IAI is challenging due to varied clinical signs. Oxidative stress and mitochondrial dysfunction have been hypothesized to evolve around IAI. This study focused on measuring circulating mtDNA levels, a proposed biomarker for mitochondrial dysfunction, in maternal serum and placenta of women with confirmed IAI and healthy controls. Methods: 12 women with confirmed IAI (IAI group) were enrolled following premature preterm rupture of the membranes (PPROM) and compared to 21 healthy women (control group). Maternal blood was obtained two weeks pre-partum and peripartum; furthermore, postpartum placental blood was taken. In the IAI group, maternal blood was taken once weekly until delivery as well as peripartum, as was placental blood. Circulating cell-free mtDNA was quantified by real-time quantitative PCR. Results: Upon admission, in the IAI group, mean plasma mtDNA levels were 735.8 fg/μL compared to 134.0 fg/μL in the control group (p < 0.05). After delivery, in the IAI group, mean mtDNA levels in the placenta were 3010 fg/μL versus 652.4 fg/μL (p < 0.05). Conclusions: Circulating cell-free mtDNA could serve as a valuable biomarker for IAI prediction and diagnosis. Future research should establish reference values for sensitivity in predicting IAI. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)
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11 pages, 427 KiB  
Article
Prenatal Manifestation of Transient Abnormal Myelopoiesis: Case Report and Review of the Literature
by Izabela Walasik, Ewelina Litwińska-Korcz, Monika Szpotańska, Paweł Stanirowski, Aleksandra Księżopolska, Artur Ludwin and Magdalena Litwińska
J. Clin. Med. 2024, 13(16), 4584; https://doi.org/10.3390/jcm13164584 - 6 Aug 2024
Viewed by 1010
Abstract
Background: Congenital malignancies are unusual fetal conditions, and therefore, the data on their prenatal manifestation are limited. Transient abnormal myelopoiesis (TAM) is a hematologic disorder characteristic for babies with trisomy 21 and based on the transient appearance of blast cells in peripheral [...] Read more.
Background: Congenital malignancies are unusual fetal conditions, and therefore, the data on their prenatal manifestation are limited. Transient abnormal myelopoiesis (TAM) is a hematologic disorder characteristic for babies with trisomy 21 and based on the transient appearance of blast cells in peripheral blood. Methods: This paper presents prenatal manifestation of congenital TAM in a newborn with normal karyotype and reviews the literature on prenatal manifestation of this disorder. Results: A pregnant woman in her third pregnancy referred herself to the hospital for reduced fetal movements at 30 weeks of gestation. Admission’s ultrasound scan showed an increased middle cerebral artery peak systolic velocity together with hepatomegaly. The patient was admitted to the labor ward for cardiotocography monitoring which showed acute fetal distress with repeated unprovoked decelerations. An emergency cesarean section was conducted and a phenotypically normal female newborn with low Apgar score was delivered. Further examination of the peripheral blood revealed anemia and leukocytosis with high blast proportion. A bone marrow aspirate revealed 70.2% of blasts in a sample with an abnormal karyotype of 47 XX+21. Cytogenetic analysis of the blasts with later microarray comparative genomic hybridization confirmed the presence of GATA1 mutation. However, the buccal smear showed a normal karyotype in the infant. The disease was classified as TAM. Conclusions: Our study demonstrates a rare case of prenatal manifestation of TAM in a neonate with a normal karyotype. Obstetricians should pay attention to symptoms like high MCA PSV and hepatosplenomegaly as possible causes of fetal hematological disorders and differentiate it with infection or isoimmunization. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)
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10 pages, 3152 KiB  
Article
The ‘Radiant Effect’: Recent Sonographic Image-Enhancing Technique and Its Impact on Nuchal Translucency Measurements
by Arne Bergsch, Jan Degenhardt, Rüdiger Stressig, Heiko Dudwiesus, Oliver Graupner and Jochen Ritgen
J. Clin. Med. 2024, 13(12), 3625; https://doi.org/10.3390/jcm13123625 - 20 Jun 2024
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Abstract
Background: This study assesses the effects of the ‘Radiant’ image enhancement technique on fetal nuchal translucency (NT) measurements during first-trimester sonographic exams. Methods: A retrospective analysis of 263 ultrasound images of first-trimester midsagittal sections was conducted. NT measurements were obtained using [...] Read more.
Background: This study assesses the effects of the ‘Radiant’ image enhancement technique on fetal nuchal translucency (NT) measurements during first-trimester sonographic exams. Methods: A retrospective analysis of 263 ultrasound images of first-trimester midsagittal sections was conducted. NT measurements were obtained using a semi-automatic tool. Statistical methods were applied to compare NT measurements with and without ‘Radiant’ enhancement. An in vitro setup with predefined line distances provided additional data. Results: Incremental increases in NT measurements were observed with varying levels of ‘Radiant’ application: an average increase of 0.19 mm with ‘Radiant min’, 0.24 mm with ‘Radiant mid’, and 0.30 mm with ‘Radiant max.’ The in vitro results supported these findings, showing consistent effects on line thickness and measurement accuracy, with the smallest mean deviation occurring at the ‘Radiant mid’ setting. Conclusions: ‘Radiant’ image enhancement leads to significant increases in NT measurements. To avoid systematic biases in clinical assessments, it is advisable to disable ‘Radiant’ during NT measurement procedures. Further studies are necessary to corroborate these findings and to consider updates to the NT reference tables based on this technology. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)
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Review

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12 pages, 1338 KiB  
Review
Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review
by Chayada Tangshewinsirikul, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Patama Promsonthi, Poomiporn Katanyuwong, Sanpon Diawtipsukon, Nareenun Chansriniyom and Theera Tongsong
J. Clin. Med. 2024, 13(19), 5735; https://doi.org/10.3390/jcm13195735 - 26 Sep 2024
Viewed by 908
Abstract
Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of [...] Read more.
Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of Noonan syndrome is rare because there are no pathognomonic sonographic signs. Studies on the prenatal sonographic features of Noonan syndrome have been reported in very limited numbers. This case series of severe fetal Noonan syndrome, together with a literature review, was conducted to establish prenatal sonographic features highly suggestive of Noonan syndrome to facilitate early detection by clinicians. This study reveals that Noonan syndrome has a relatively specific pattern, which facilitates prenatal molecular genetic diagnosis. Increased nuchal translucency (NT) in the late first trimester and fluid collection in the early second trimester could be warning signs for follow-up, prompting further investigation to detect late-onset features and leading to molecular genetic confirmation. Most structural abnormalities appear in the second trimester, with progressive changes noted throughout gestation. This review better characterizes the sonographic features of fetal Noonan syndrome based on a larger sample size, illustrating a wider spectrum of prenatal phenotypes, including lymphatic drainage disorders, cardiac abnormalities, polyhydramnios, and absent ductus venosus. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)
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20 pages, 1127 KiB  
Review
Ophthalmic Complications, Diagnosis, and Treatment of Congenital Human Cytomegalovirus Infection
by Monika Modrzejewska, Piotr Połubiński and Oliwia Zdanowska
J. Clin. Med. 2024, 13(12), 3379; https://doi.org/10.3390/jcm13123379 - 8 Jun 2024
Viewed by 1484
Abstract
Background: Human cytomegalovirus (hCMV) is the most common etiological agent of congenital infections seen in newborns. Among the most commonly observed complications in children with congenital human cytomegalovirus infection are those affecting the visual system. Ocular complications of congenital CMV (cCMV) are a [...] Read more.
Background: Human cytomegalovirus (hCMV) is the most common etiological agent of congenital infections seen in newborns. Among the most commonly observed complications in children with congenital human cytomegalovirus infection are those affecting the visual system. Ocular complications of congenital CMV (cCMV) are a topic rarely addressed in the literature, which prompted the authors to update the available knowledge with the latest data. Methodology: English-language literature published between April 2000 and November 2023 (PubMed, NIH, Google Scholar) was analyzed for ocular complications of cCMV. The data obtained were categorized according to the ocular area involved and the incidence. A compilation of criteria for the symptomatic form of cCMV was also created. Results: The cCMV complications described in the literature affect all parts of the visual system: the anterior segment, the posterior segment, the posterior visual pathways, and the visual cortex. The most commonly described ocular complication of cCMV is choroidal and retinal scarring. Conclusions: Ophthalmic complications of cCMV can cause severe visual disturbances. Ophthalmic diagnosis in newborns should include hCMV PCR testing, which has the highest sensitivity and specificity. In the symptomatic form of cCMV, treatment should be instituted according to recommendations. A consensus should be established for screening of primary hCMV infection in pregnant women, the way in which to define the symptomatic form of cCMV, and the appropriateness and standards of treatment for primary hCMV infection in pregnant women. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: Amniotic Band Syndrome in Monochorionic Diamniotic Twin Pregnancy: A Case Report of Fetal Swallowing of Amniotic Band
Author: Shahsavan
Highlights: This underscores the necessity of a nuanced understanding of ABS, especially in the context of MCDA twin pregnancies, where complications can be particularly intricate and unpredictable. This report contributes to the expanding body of knowledge on ABS, emphasizing its manifestations' variability and the importance of personalized care approaches in managing such rare occurrences.

Title: The role of Papp-a serum levels as a first-trimester screening test for gestational diabetes: a systematic review
Authors: Martina Derme
Affiliation: Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Roma, Italy
Abstract: Gestational diabetes mellitus (GDM) is one of the most common complications of pregnancy with a global prevalence of 14.7%, however there is still a lack of international consensus on screening for GDM during the first trimester of pregnancy. In this review, we aimed to evaluate the role of pregnancy-related plasma protein A (PAPP-A) levels as a first trimester screening test for GDM. A meticulous search of PubMed, Scopus, Embase and Web of Science was performed by two independent researchers from July to September 2024 to identify all studies published from 2000 to 2024. Cohort or case-control studies that reported PAPP-A levels in single, first-trimester pregnancies and assessed the relationship between pregnancy-associated plasma protein A and GDM were considered to be eligible. Twenty-five articles met our inclusion criteria and were considered in our systematic review. Maternal PAPP-A MoM concentrations were significantly lower in GDM cases than in controls in all studies. However, when PAPP-A MoM levels were combined with other risk factors for predicting GDM, such as maternal age, parity and BMI, ROC analysis revealed that the area under the curve (AUC) was 0.63. Overall, our results confirmed that lower levels of PAPP-A MoM in the first trimester could be considered as potential screening test for the identification of subsequent GDM in pregnancy, allowing potential benefits in terms of dietary advice and pharmacological interventions since the first weeks of pregnancy.

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