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Children
Special Issues
Prenatal Screening and Diagnosis: Fetal Medicine Perspectives
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Prenatal Screening and Diagnosis: Fetal Medicine Perspectives

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Neonatology".

Deadline for manuscript submissions: 1 October 2026 | Viewed by 2059

Special Issue Editors

Dr. Daniela Roxana Matasariu

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, University of Medicine and Pharmacy ”Grigore T. Popa”, Iasi, Romania
Interests: obstetrics; fetal medicine and surgery; pregnancy complications; screening in pregnancy; congenital malformations; non-invasive prenatal testing; ultrasound and imaging in prenatal diagnosis; genetic and chromosomal abnormalities in pregnancy; management of high-risk pregnancy; ethical and psychosocial aspects of prenatal diagnosis
Dr. Rotar Ioana

E-Mail Website
Guest Editor
Obstetrics and Gynecology I, Mother and Child Department, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania
Interests: obstetrics; fetal medicine; fetal surgery; pregnancy complications; screening in pregnancy; non-invasive prenatal testing; ultrasound and imaging in prenatal diagnosis; management of high-risk pregnancy
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Demetra Gabriela Socolov

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, ‘Grigore T. Popa’ University of Medicine and Pharmacy, 700115 Iasi, Romania
Interests: obstetrics; fetal medicine; fetal surgery; pregnancy complications; screening in pregnancy; non-invasive prenatal testing; ultrasound and imaging in prenatal diagnosis; management of high-risk pregnancy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Over the past few decades, fetal medicine has transformed from a primarily observational field into one driven by proactive diagnosis and intervention. Initially centered around basic ultrasound, the field expanded significantly with the advent of high-resolution imaging, Doppler studies, and, more recently, the integration of genomic tools such as chromosomal microarray analysis and next-generation sequencing. The development of non-invasive prenatal testing (NIPT) has further redefined prenatal screening paradigms, enabling early detection of common aneuploidies with unprecedented accuracy and safety.

This Special Issue aims to provide a comprehensive overview of current advances in fetal medicine and their clinical implications. We intend to explore how emerging technologies are reshaping prenatal diagnosis, the ethical and societal implications of early fetal genetic information, and how these developments influence clinical decision-making and patient counseling. The issue will also highlight global perspectives, disparities in access, and strategies for integrating these innovations into routine care.

We encourage submissions showcasing novel research in areas such as the following:

  • Innovative imaging techniques (e.g., fetal MRI, 3D/4D ultrasound);
  • Advances in molecular diagnostics and fetal genomics;
  • Machine learning and AI applications in prenatal imaging and risk assessment;
  • In utero therapies and fetal interventions;
  • The role of biomarkers in early prediction of fetal and maternal complications;
  • Ethical, legal, and psychosocial challenges of advanced prenatal testing.

We invite original research articles, reviews, clinical trials, case series, and opinion pieces that address any aspect of modern fetal medicine. Contributions may be focused on technological innovation, clinical applications, implementation science, or health policy. Interdisciplinary submissions from genetics, obstetrics, radiology, neonatology, and bioethics are particularly welcome.

We look forward to your valuable contributions to this timely and impactful issue.

Dr. Daniela Roxana Matasariu
Dr. Rotar Ioana
Prof. Dr. Demetra Gabriela Socolov
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 250 words) can be sent to the Editorial Office for assessment.

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 screening
  • fetal medicine
  • fetal anomalies
  • prenatal diagnosis
  • non-invasive prenatal testing
  • genetic testing

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

Published Papers (3 papers)

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16 pages, 1678 KB  
Article
Impact of Telehealth and Social Drivers of Health on Utilization of Fetal Center Services
by Nicole M. Khanna, Suhagi Kadakia, Quyen M. Diep and Rakhee M. Bowker
Children 2026, 13(4), 538; https://doi.org/10.3390/children13040538 - 13 Apr 2026
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Abstract
Background: Data is limited regarding the impact of social drivers of health (SDOH) on fetal center (FNMC) service utilization. Objectives: The objectives of this study were to (1) compare FNMC utilization by era (pre-telehealth era vs. COVID-19 telehealth era) and (2) examine associations [...] Read more.
Background: Data is limited regarding the impact of social drivers of health (SDOH) on fetal center (FNMC) service utilization. Objectives: The objectives of this study were to (1) compare FNMC utilization by era (pre-telehealth era vs. COVID-19 telehealth era) and (2) examine associations between maternal sociodemographics and FNMC service utilization. Study Design: A retrospective study of 300 high-risk pregnant individuals with suspected fetal anomalies was conducted, analyzing utilization vs. SDOH (deprivation (ADI), preferred language, race/ethnicity, insurance, employment) comparing pre-telehealth (n = 200) and COVID-19 telehealth (n = 100) cohorts. Results: Race/ethnicity was associated with differences in fetal echo utilization and family complex care coordination conference (FC) attendance in the univariate analysis. The ADI decile and era predicted FC attendance in the logistic regression, while race/ethnicity, preferred language, and employment were not significant. The ADI and insurance were significant predictors of co-parent attendance, whereas era, employment, preferred language, and race were not. Conclusions: FC attendance was lower in the COVID-19 era despite telehealth expansion. Higher neighborhood deprivation predicted higher maternal attendance but lower co-parent attendance. Co-parent FC attendance was lower for mothers with Medicaid. Full article
(This article belongs to the Special Issue Prenatal Screening and Diagnosis: Fetal Medicine Perspectives)
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15 pages, 686 KB  
Article
Associations Between Fetal Symptoms During Pregnancy and Neonatal Clinical Complications with Cytomegalovirus Infection
by Virág Bartek, Márta Csire, Gréta Kiss, Réka Hodula and Artur Beke
Children 2025, 12(12), 1690; https://doi.org/10.3390/children12121690 - 12 Dec 2025
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Abstract
Introduction: Primary Cytomegalovirus (CMV) infection occurs in 0.7–4.1% of all pregnancies. Our study aims to analyze the incidence rate of ultrasound anomalies, as well as CMV PCR analysis of the amniotic fluid sample obtained from amniocentesis in CMV-infected pregnancies, as well as the [...] Read more.
Introduction: Primary Cytomegalovirus (CMV) infection occurs in 0.7–4.1% of all pregnancies. Our study aims to analyze the incidence rate of ultrasound anomalies, as well as CMV PCR analysis of the amniotic fluid sample obtained from amniocentesis in CMV-infected pregnancies, as well as the outcome of the pregnancies and neonatal follow-up. Methods: We analyzed cases of recent maternal CMV infections confirmed by serological testing at the Department of Obstetrics and Gynecology, Semmelweis University, between 2001 and 2023. In cases of primary CMV infection confirmed by serological testing during pregnancy, we offered amniocentesis at the genetic counseling, which was performed at the 20–21 weeks stage of the pregnancy. Results: In 130 cases of recent maternal CMV infection confirmed by serological testing, amniocentesis was performed, and a total of 11 cases (8.46%) were found to have CMV DNA in the amniotic fluid. Based on the neonatological follow-up examinations in 116 deliveries, 18 newborns had complications (15.52%); however, some cases were associated with multiple complications, resulting in a total of 33 types of complications being identified (28.45%). Among the 11 neurological complications (9.48%), we found 1 case each (0.86%) of severe inoperable intracranial space occupation, hydrocephalus, balance disorder, sleep disorder–sleep apnea, and speech development disorder. Two cases (1.72%) were found to have rigid muscles, epilepsy, and hypotonic muscles. Ophthalmological complications occurred in five cases (4.31%), such as enophthalmos, cataract, and retinopathy of prematurity (ROP), one case each, and two cases of strabism. Other complications were detected in 17 cases (14.66%). Conclusions: Because of the high incidence rate of recent CMV infection, serological testing is recommended following fetal abnormality detected by ultrasound. If a serologically confirmed new infection is diagnosed, the affected couple should be offered amniocentesis. Full article
(This article belongs to the Special Issue Prenatal Screening and Diagnosis: Fetal Medicine Perspectives)
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10 pages, 1327 KB  
Case Report
Possibilities and Limitations of Prenatal Diagnosis of Rare Imprinting Syndromes: Prader–Willi Syndrome
by Simona Anzhel, Nikolinka Yordanova, Emil Kovachev, Darina Krumova and Elis Ismail
Children 2026, 13(2), 177; https://doi.org/10.3390/children13020177 - 28 Jan 2026
Viewed by 526
Abstract
Background: Prader–Willi syndrome (PWS) is a multisystemic complex imprinting disorder. Prenatal diagnosis of PWS is still a challenge with non-specific ultrasound markers and limitations for diagnosis with non-invasive screening methods. Prenatal suspicion and early postnatal diagnosis are essential for promoting healthy growth and [...] Read more.
Background: Prader–Willi syndrome (PWS) is a multisystemic complex imprinting disorder. Prenatal diagnosis of PWS is still a challenge with non-specific ultrasound markers and limitations for diagnosis with non-invasive screening methods. Prenatal suspicion and early postnatal diagnosis are essential for promoting healthy growth and development, preventing complications, and providing healthcare professionals and families with the necessary support and resources for effective management. Presentation: We report two PWS cases caused by maternal uniparental disomy, who presented with IUGR, characterized by reduced fetal abdominal circumference (AC) in the second and early third trimesters, reduced fetal movements, normal Doppler indices and oligohydramnios. They were diagnosed in the early neonatal period with no prenatal suspicion but with similar ultrasound markers of the developing pregnancies, analyzed retrospectively. Aim: This study aims to emphasize the need to raise awareness among specialists about genetic syndromes such as Prader–Willi syndrome, to improve the information provided to couples regarding the limitations of current prenatal screening methods, as well as to ensure that, in cases of prenatal suspicion, appropriate genetic testing can be initiated. A confirmed diagnosis would allow timely and adequate measures to be taken, given the complications of the postnatal period in these patients and their need for specialized care and management. Conclusions: The presence of the aforementioned prenatal characteristics may raise suspicion for PWS. In such cases, invasive diagnostic procedures and methylation testing may be indicated, enabling earlier diagnosis and timely management, which can ultimately improve the quality of life of affected individuals and their families. Full article
(This article belongs to the Special Issue Prenatal Screening and Diagnosis: Fetal Medicine Perspectives)
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