Advances in Prenatal Diagnosis and Their Impact on Neonatal Outcomes

A special issue of Children (ISSN 2227-9067).

Deadline for manuscript submissions: 30 September 2025 | Viewed by 2331

Special Issue Editors


E-Mail Website
Guest Editor
1. Department of Materno-Fetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), Hospital Universitario Virgen del Rocio/CSIC/University of Seville, 41013 Seville, Spain
2. Fetal, IVF and Reproduction Simulation Training Center (FIRST), 41010 Seville, Spain
3. Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain
Interests: fetal medicine; fetal therapy; prenatal diagnosis; prenatal genetics; genomics

E-Mail Website
Guest Editor
1. Department of Materno-Fetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), Hospital Universitario Virgen del Rocio/CSIC/University of Seville, 41013 Seville, Spain
2. Department of Surgery, University of Seville, 41013 Seville, Spain
Interests: fetal medicine; fetal therapy; prenatal diagnosis; prenatal genetics; genomics

Special Issue Information

Dear Colleagues,

Prenatal diagnosis has revolutionized perinatal care, enabling the early detection of fetal conditions and guiding interventions that profoundly influence neonatal outcomes. Since its inception with the advent of ultrasound and genetic testing, this field has evolved into a multidisciplinary domain integrating advanced imaging, molecular diagnostics, and computational technologies. These advances have not only improved diagnostic accuracy but have also expanded our understanding of the fetal environment and its long-term implications.

This Special Issue aims to explore the latest developments in prenatal diagnosis and their direct and indirect impacts on neonatal health. We seek to highlight cutting-edge research that bridges the gap between prenatal findings and neonatal care, addressing both clinical and technological innovations.
We welcome submissions focusing on novel diagnostic techniques, predictive models for neonatal outcomes, interventional approaches, and ethical considerations in prenatal care. Original research articles, reviews, and case studies that showcase interdisciplinary collaboration are particularly encouraged, fostering a comprehensive understanding of this critical continuum in medicine.

Dr. Ángel Chimenea-Toscano
Dr. Lutgardo García-Díaz
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. Children is an international peer-reviewed open access monthly 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 2400 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

  • prenatal diagnosis
  • neonatal outcomes
  • fetal medicine
  • perinatal care
  • predictive models
  • advanced imaging
  • interventional approaches

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (4 papers)

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

Research

Jump to: Other

14 pages, 2345 KiB  
Article
Clinical Experience in the Management of a Series of Fetal–Neonatal Ovarian Cysts
by Constantin-Cristian Văduva, Laurentiu Dira, Dominic Iliescu, Dan Ruican, Anișoara-Mirela Siminel, George Alin Stoica, Mircea-Sebastian Şerbănescu and Andreea Carp-Velișcu
Children 2025, 12(7), 934; https://doi.org/10.3390/children12070934 - 16 Jul 2025
Viewed by 257
Abstract
Introduction: Fetal ovarian cysts are known to be a common form of fetal abdominal masses in female fetuses, often resulting from hormonal stimulation in utero. Although many resolve spontaneously without sequelae, others can develop into more complex pathologies, such as intracystic hemorrhage or [...] Read more.
Introduction: Fetal ovarian cysts are known to be a common form of fetal abdominal masses in female fetuses, often resulting from hormonal stimulation in utero. Although many resolve spontaneously without sequelae, others can develop into more complex pathologies, such as intracystic hemorrhage or torsion, which can compromise ovarian integrity and long-term reproductive outcomes. Early detection and appropriate follow-up evaluation are therefore crucial for optimal perinatal management. Materials and Methods: We conducted a retrospective study of 12 cases of fetal ovarian cysts diagnosed by routine prenatal ultrasound examinations over a two-year period at our institution. Inclusion criteria were the presence of a cystic adnexal lesion detected in utero, detailed prenatal ultrasound documentation, and a comprehensive postnatal examination. Sonographic features such as cyst size, internal echogenicity, and signs of vascular compromise were recorded. The mother’s clinical variables, including gestational age at diagnosis and relevant medical conditions, were noted. Postnatal follow-up evaluation consisted of ultrasound examinations and, if indicated, pediatric surgical consultation. Results: Of the 12 cases, 9 were characterized by a simple cystic morphology. All spontaneously regressed postnatally and did not require surgical intervention. Three were defined as complex cysts showing septations or echogenic deposits; one of these cysts required immediate surgical exploration for suspected torsion. No cases with a malignant background were identified. All infants showed a favorable course with normal growth and development until follow-up evaluation. Conclusions: This series emphasizes that most fetal ovarian cysts are benign and often resolve without intervention, highlighting the benefit of systematic prenatal imaging. Nevertheless, complex or large cysts require close prenatal and neonatal monitoring to diagnose complications such as torsion. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Their Impact on Neonatal Outcomes)
Show Figures

Figure 1

12 pages, 1450 KiB  
Article
Polyhydramnios at Term in Gestational Diabetes: Should We Be Concerned?
by Mercedes Horcas-Martín, Tania Luque-Patiño, Claudia Usandizaga-Prat, Elena Díaz-Fernández, Victoria Melero-Jiménez, Luis Vázquez-Fonseca, Francisco Visiedo, José Román Broullón-Molanes, Rocío Quintero-Prado and Fernando Bugatto
Children 2025, 12(7), 920; https://doi.org/10.3390/children12070920 - 11 Jul 2025
Viewed by 449
Abstract
Background/Objectives: Pregnancies complicated by idiopathic polyhydramnios are linked to a heightened risk of numerous maternal and perinatal complications. We aim to study the implications of polyhydramnios in term pregnancies complicated with gestational diabetes mellitus (GDM). Methods: A prospective cohort study including 340 GDM [...] Read more.
Background/Objectives: Pregnancies complicated by idiopathic polyhydramnios are linked to a heightened risk of numerous maternal and perinatal complications. We aim to study the implications of polyhydramnios in term pregnancies complicated with gestational diabetes mellitus (GDM). Methods: A prospective cohort study including 340 GDM cases was conducted. An ultrasound scan was conducted at term between 37 and 40 weeks and amniotic fluid volume (AFV) was assessed by measuring the amniotic fluid index (AFI) and the single deepest pocket (SDP). Maternal demographics and obstetric and perinatal outcomes were evaluated after delivery. We performed comparisons between groups with normal AFV and polyhydramnios (AFI ≥ 24 cm or SDP ≥ 8 cm), and between groups with normal and increased AFV (AFI or SDP ≥ 75th centile). A multivariate logistic regression analysis was performed to study association between AVF measurements and adverse maternal and perinatal outcomes. Results: We found that women with GDM and polyhydramnios at term had a higher risk of maternal (54.3 vs. 27.5%, p < 0.001) and perinatal adverse outcomes (65.7% vs. 46.5%, p < 0.03). The increased AFV group showed a higher risk of fetal overgrowth (LGA: 21.4% vs. 8.2%, p < 0.001 and macrosomia: 19.8% vs. 5.4%, p < 0.001, respectively) and a lesser risk of delivering an SGA fetus (6.3% vs. 13.6%, respectively). Both AFI and SDP showed a significant correlation with newborn weight (r = 0.27; p < 0.001 and r = 0.28; p < 0.001, respectively) and newborn centile (r = 0.26; p < 0.001 and r = 0.26 for both). Subsequent to conducting a multivariate logistic regression analysis adjusted for pregestational BMI, nulliparity, and insulin treatment, both AFI and SDP were significantly associated with perinatal complications, but AFI showed a stronger association with fetal overgrowth (aOR 1.11; p = 0.004 for a LGA fetus and aOR 1.12; p = 0.002 for macrosomia) and with lower risk of delivering an SGA fetus (aOR 0.89; p = 0.009) or IUGR fetus (aOR 0.86; p = 0.03). ROC analysis showed a poor diagnostic performance of both AFI and SDP for identifying macrosomia (AUC 0.68 for AFI, and 0.65 for SDP). Conclusions: Detection of polyhydramnios at term, whether using AFI or SDP, identifies a subgroup of women with gestational diabetes with higher risks of obstetric and perinatal complications. Cases with increased AFV (AFI ≥ 18 cm or SDP ≥ 6.5 cm) are also associated with an increased risk of fetal overgrowth and may require more intensive monitoring for management and optimal delivery timing, with the aim of improve perinatal outcomes. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Their Impact on Neonatal Outcomes)
Show Figures

Figure 1

12 pages, 2927 KiB  
Article
Predictive Value of Maternal HbA1c Levels for Fetal Hypertrophic Cardiomyopathy in Pregestational Diabetic Pregnancies
by Angel Chimenea, Ana María Calderón, Guillermo Antiñolo, Eduardo Moreno-Reina and Lutgardo García-Díaz
Children 2025, 12(3), 312; https://doi.org/10.3390/children12030312 - 28 Feb 2025
Cited by 1 | Viewed by 700
Abstract
(1) Background: This study investigated the utility of first-visit HbA1c levels as a predictor of fetal hypertrophic cardiomyopathy (FHCM) in women with pregestational diabetes mellitus (PGDM). (2) Methods: A retrospective observational cohort study was conducted among all pregnant women with PGDM between 2012 [...] Read more.
(1) Background: This study investigated the utility of first-visit HbA1c levels as a predictor of fetal hypertrophic cardiomyopathy (FHCM) in women with pregestational diabetes mellitus (PGDM). (2) Methods: A retrospective observational cohort study was conducted among all pregnant women with PGDM between 2012 and 2019. (3) Results: Of 329 participants, 5.8% had fetuses diagnosed with FHCM. These women exhibited significantly higher pregestational HbA1c (8.2% vs. 7.3%, p = 0.003) and higher first-visit HbA1c (7.6% vs. 6.9%, p = 0.001) and were less likely to have planned their pregnancies (p = 0.035). Fetuses with FHCM demonstrated a higher incidence of macrosomia (63.2% vs. 17.7%, p < 0.001; OR 9.20, 95% CI 3.31–25.58). Receiver-operating characteristic (ROC) analysis indicated an adequate predictive capacity for FHCM using first-visit HbA1c (AUC 0.75). An HbA1c threshold of 7.15% provided the best discriminative power, encompassing 38.9% of the cohort. (4) Conclusions: These findings underscore the value of assessing first-visit HbA1c levels for predicting FHCM in women with PGDM. The significant association between glycemic status and FHCM highlights the importance of optimizing glycemic control before and during pregnancy. Establishing optimal HbA1c cutoffs enables effective risk stratification and supports targeted clinical interventions. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Their Impact on Neonatal Outcomes)
Show Figures

Figure 1

Other

Jump to: Research

16 pages, 1355 KiB  
Systematic Review
Investigation of Pre- and Postnatal Abnormalities Caused by Prenatal CMV Infection—Systematic Review
by Virág Bartek and Artur Beke
Children 2025, 12(5), 607; https://doi.org/10.3390/children12050607 - 6 May 2025
Viewed by 550
Abstract
Background/Objectives: CMV (cytomegalovirus) is associated with several developmental disorders. The incidence of congenital cytomegalovirus infection is around 1%, depending on the region. Previous prospective studies have shown that certain ultrasound findings are predictive factors for prenatal CMV infection. Methods: During this systematic review, [...] Read more.
Background/Objectives: CMV (cytomegalovirus) is associated with several developmental disorders. The incidence of congenital cytomegalovirus infection is around 1%, depending on the region. Previous prospective studies have shown that certain ultrasound findings are predictive factors for prenatal CMV infection. Methods: During this systematic review, we searched PubMed and Embas. Out of 569 results, 19 met our search criteria (we included cases where prenatally positive amniocentesis PCR for CMV was performed or autopsy confirmed the CMV diagnosis). A total of 237 cases were reported from 19 studies. Results: In 64 cases, abortion or perinatal death occurred. The most common prenatal abnormalities were small for gestational age (n = 47), ventriculomegaly (n = 51), and hyperechogenic bowels (n = 39). A subependymal cyst was the most common prenatal MRI abnormality (n = 20). Hearing loss was observed in 61 cases (42 mild, 19 severe). Among prenatal signs, we found a correlation between hearing loss and ventriculomegaly (Fisher’s exact test, p = 0.0052). The most common neurological complication was speech delay. We were able to demonstrate a prenatal association with neurological complications and subependymal cyst (Fisher’s exact test, p = 0.00003547), but this pattern could only be reliably seen with MRI. Conclusions: In prenatally diagnosed CMV infection, ultrasound signals may be suitable for estimating the outcome. Conducting a prospective study and establishing a score would be worthwhile for its clinical application. In cases of ultrasound abnormalities and suspicion of CMV, it is worth performing a prenatal MRI, even in everyday practice. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Their Impact on Neonatal Outcomes)
Show Figures

Figure 1

Back to TopTop