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New Advances in Prenatal Diagnosis and Newborn Screening
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New Advances in Prenatal Diagnosis and Newborn Screening

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 August 2025) | Viewed by 8617

Special Issue Editors

Dr. Zoltan Kozinszky

E-Mail Website
Guest Editor
1. Capio Specialized Center for Gynecology, Postgången 53, 171 45 Solna, Sweden
2. Department of Obstetrics and Gynecology, University of Szeged, H-6725 Szeged, Hungary
Interests: molecular, ultrasound and clinical characterization of pregnancy complications; placental histology
Special Issues, Collections and Topics in MDPI journals
Dr. Andrea Suranyi

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, University of Szeged, H-6725 Szeged, Hungary
Interests: perinatal ultrasound; serum markers for complications of pregnancy; histopathology of the placenta; neonatal pathological conditions
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

An increasing amount of evidence points to the pivotal role of proangiogenic, angiogenic, immunological and inflammatory factors in fetoplacental growth and development. These factors are produced by different cell types of the placenta (extravillous and intravillous trophoblasts, amniotic and chorionic cells, natural killer cells, T lymphocytes, macrophages, etc.) and accumulate in different fetomaternal body fluid compartments. The levels of these factors are different in various pathological conditions of the pregnancy and are capable of predicting pregnancy outcomes, pathological conditions of the pregnancy, and may interrelate with intrauterine sonographic and birth parameters.

Growing knowledge about the overproduction or underproduction of these factors helps us to understand the etiology and pathomechanisms of disorders, including preeclampsia, pregestational and gestational diabetes, and growth alterations of fetuses, which will contribute to the improvement of perinatal outcomes and reduce maternal and neonatal mortality.

The aim of this Special Issue is to provide an overview of new molecular pathways and serological and sonographic markers for the etiopathogenesis of pathological conditions in pregnancies. We encourage laboratory and clinical researchers to submit their works that contribute to the improvement of pregnancy outcomes in pathological conditions of pregnancies. Thus, all original research articles or reviews on topics related to pregnancy complications are welcome in this Special Issue.

Topics will comprise:

Complications of pregnancy: fetal growth restriction, large for gestational age, pregestational and gestational diabetes, preeclampsia and hypertension in pregnant women, molecular markers, etiopathogenesis, pathophysiology, causes, and complications.

Neonatal condition, i.e., small for gestational age or large for gestational age.

Placenta and amniotic fluid in pathological conditions of pregnancy: what is pathognomonic in different conditions?

Fetal and neonatal complications.

Dr. Zoltan Kozinszky
Dr. Andrea Suranyi
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

  • sonographic parameters
  • molecular markers
  • extravillous and villous trophoblasts
  • perinatal ultrasound
  • serum markers for complications of pregnancy
  • histopathology of the placenta
  • neonatal pathological conditions

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Published Papers (6 papers)

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Research

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20 pages, 3579 KB  
Article
Predicting Neonatal Morbidity and Correlations with Maternal and Neonatal Biomarkers in Connection with Fetal Inflammatory Response Syndrome in Premature Births
by Diana Iulia Vasilescu, Adriana Mihaela Dan, Ion Dragomir, Sorin Liviu Vasilescu, Adrian Vasile Dumitru, Vlad Dima and Monica Mihaela Cîrstoiu
J. Clin. Med. 2025, 14(18), 6440; https://doi.org/10.3390/jcm14186440 - 12 Sep 2025
Viewed by 383
Abstract
Introduction: Fetal Inflammatory Response Syndrome (FIRS) is widely acknowledged for its contribution to neonatal morbidity in premature infants. Being a systemic inflammatory process triggered by intrauterine infections or other stimuli, FIRS has gained significant attention due to its complex implications for neonatal adverse [...] Read more.
Introduction: Fetal Inflammatory Response Syndrome (FIRS) is widely acknowledged for its contribution to neonatal morbidity in premature infants. Being a systemic inflammatory process triggered by intrauterine infections or other stimuli, FIRS has gained significant attention due to its complex implications for neonatal adverse outcomes: preterm birth, early onset neonatal sepsis, death or long-term neurodevelopmental impairments. Fetal plasma Interleukin-6 (IL-6) levels above 11 pg/mL define FIRS and serve as an essential biomarker, providing insights into the complex mechanisms underlying this response. This study aims to evaluate the clinical, laboratory, and therapeutic differences between preterm neonates with and without FIRS. Methods: A prospective cohort study was conducted, involving 125 preterm neonates with gestational ages between 23 and 37 weeks, who were admitted to the Neonatal Intensive Care Unit (NICU) at the Emergency University Hospital Bucharest between April 2023 and April 2025. Infants were stratified into FIRS and non-FIRS groups based on the measurement of cord blood IL-6 levels greater than 11 pg/mL. Demographic, biochemical, and therapeutic parameters were compared across the two groups. Results: Preterm neonates with FIRS had significantly lower birth weight, length, and head circumference, and lower Apgar scores at 1 and 5 min (p = 0.001). FIRS was associated with a higher incidence of vaginal delivery, meconium-stained amniotic fluid, and neonatal metabolic imbalances, requiring more respiratory support, longer antibiotic treatment periods, and more blood transfusions (p < 0.05). Neonatal complications such as early-onset sepsis (EOS) and late-onset sepsis (LOS), respiratory distress, necrotizing enterocolitis (NEC), intraventricular hemorrhage (IVH), and retinopathy of prematurity (ROP) were significantly more frequent in the FIRS group (p ≤ 0.01). Among maternal cervical screening, Chlamydia trachomatis was the only pathogen significantly associated with FIRS. Conclusions: FIRS in preterm neonates is linked to important perinatal inflammation, adverse short and long-term outcomes, and extensive medical intervention. These findings highlight the value of early identification of intrauterine inflammation and targeted neonatal monitoring strategies. Further studies are needed to explore long-term outcomes and improve diagnostic and therapeutic protocols. Full article
(This article belongs to the Special Issue New Advances in Prenatal Diagnosis and Newborn Screening)
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14 pages, 1238 KB  
Article
Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women
by Victoria Ardiles-Ruesjas, Roser Viñals, Montse Pauta, Irene Madrigal and Antoni Borrell
J. Clin. Med. 2024, 13(16), 4888; https://doi.org/10.3390/jcm13164888 - 19 Aug 2024
Viewed by 1735
Abstract
Background/Objectives: Cell-free DNA (cfDNA) is a non-invasive prenatal test used to screen for common trisomies (target cfDNA) that can be expanded to assess all autosomal chromosomes (genome-wide cfDNA). As cfDNA testing gains popularity, it is crucial to examine the factors influencing the [...] Read more.
Background/Objectives: Cell-free DNA (cfDNA) is a non-invasive prenatal test used to screen for common trisomies (target cfDNA) that can be expanded to assess all autosomal chromosomes (genome-wide cfDNA). As cfDNA testing gains popularity, it is crucial to examine the factors influencing the decision-making process of pregnant individuals when choosing between these two approaches. Methods: In this prospective cohort study, 190 individuals undergoing cfDNA testing for aneuploidy screening, according to the current screening protocol, were allowed to make their own choice between target and genome-wide cfDNA testing. They were asked to complete a first survey at 11–13 weeks, designed to explore their characteristics, preferences, and satisfaction with the prenatal genetic counseling session, as well as a Decisional Conflict Scale. A postnatal survey was administered three months after delivery, including the Decisional Regret Scale and two open questions. Results: 84% of participants opted for genome-wide cfDNA. However, 17% found the decision challenging, and 14% felt that the results might increase anxiety. No significant differences in participant characteristics were found when comparing decisions between genome-wide and target cfDNA. However, significant differences were observed regarding ethnicity (p = <0.001), educational level (p = 0.029), previous cfDNA experience (p = 0.004), and having sufficient information when comparing termination options (p = 0.002). After delivery, only 4% would have changed their decision. Conclusions: Individuals, regardless of their characteristics, prefer genome-wide cfDNA; however, the complexity of the results necessitates enhanced genetic education for prenatal care clinicians. Full article
(This article belongs to the Special Issue New Advances in Prenatal Diagnosis and Newborn Screening)
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14 pages, 2570 KB  
Article
Effect of Obesity on Aquaporin5 Expression in Human Placental and Uterus Tissues
by Kata Kira Kemény, Zoltan Kozinszky, Ábel T. Altorjay, Bálint Kolcsár, Andrea Surányi and Eszter Ducza
J. Clin. Med. 2024, 13(15), 4490; https://doi.org/10.3390/jcm13154490 - 31 Jul 2024
Cited by 1 | Viewed by 1698
Abstract
Background: Obesity and overweight are also becoming more prevalent among women of childbearing age and pregnant women. In maternal obesity, the activation of metabolic, inflammatory, and oxidative stress pathways is proven, which appears to be a key step in the pathological changes observed [...] Read more.
Background: Obesity and overweight are also becoming more prevalent among women of childbearing age and pregnant women. In maternal obesity, the activation of metabolic, inflammatory, and oxidative stress pathways is proven, which appears to be a key step in the pathological changes observed in placental and uterine function. Several recent studies have evidenced that aquaporins (AQPs) are critical players in adipose tissue biology and are involved in the onset of obesity. Methods: Our studies aimed to investigate the changes in placental volume and vascularization and measure the AQP5 expression and total antioxidant capacity (TAC) in the placenta and uterus tissues in obese and typical-weight mothers. We also aim to measure the AQP5 plasma concentration. Results: We found AQP5 dominance in the uterus and plasma at 34 weeks of normal pregnancy. The placental volume increased and the vascularization decreased in obese mothers compared to the control. The AQP5 expression increased in the uterus of the obese group and did not change in the placenta. The TAC decreased in the plasma of overweight mothers. Conclusions: We hypothesize that increased AQP5 expression prolongs the length of pregnancy and inhibits the onset of contractions. Based on our findings, we can develop diagnostic tests and provide new targets for tocolytic drug development. Full article
(This article belongs to the Special Issue New Advances in Prenatal Diagnosis and Newborn Screening)
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Review

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12 pages, 356 KB  
Review
Antenatal Corticosteroids in Early and Late Fetal Growth Restriction
by Valentina Tosto, Carolina Scala, Nicola Fratelli, Anna Fichera, Alessandra Familiari, Ambrogio Pietro Londero, Luca Antonio Ramenghi and Federico Prefumo
J. Clin. Med. 2025, 14(14), 4876; https://doi.org/10.3390/jcm14144876 - 9 Jul 2025
Viewed by 1582
Abstract
Antenatal corticosteroids are widely used to prevent newborn morbidity and mortality in special obstetric circumstances, especially in preterm birth, but there are ongoing concerns about possible neutral or even detrimental short- and long-term effects in pregnancies complicated by fetal growth restriction. Fetuses with [...] Read more.
Antenatal corticosteroids are widely used to prevent newborn morbidity and mortality in special obstetric circumstances, especially in preterm birth, but there are ongoing concerns about possible neutral or even detrimental short- and long-term effects in pregnancies complicated by fetal growth restriction. Fetuses with growth restriction may be a subset of preterm infants with a particular vulnerability to steroid exposure. The current scientific evidence on exogenous antenatal corticosteroid effects in this population is not conclusive. Gestational age (early versus late) is a critical issue to assess regarding their use as standard care in this special obstetric circumstance. Full article
(This article belongs to the Special Issue New Advances in Prenatal Diagnosis and Newborn Screening)
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10 pages, 208 KB  
Review
Newborn Hearing Screening—Polish Experience: A Narrative Review
by Krzysztof Szyfter, Wojciech Gawęcki and Witold Szyfter
J. Clin. Med. 2025, 14(8), 2789; https://doi.org/10.3390/jcm14082789 - 17 Apr 2025
Viewed by 944
Abstract
The Universal Neonatal Hearing Screening (UNHS) program is crucial for the early detection and treatment of hearing impairment in newborns. Poland has successfully implemented a nationwide UNHS program, adhering to international standards. Research indicates that hearing loss affects approximately 2–4 per 1000 infants, [...] Read more.
The Universal Neonatal Hearing Screening (UNHS) program is crucial for the early detection and treatment of hearing impairment in newborns. Poland has successfully implemented a nationwide UNHS program, adhering to international standards. Research indicates that hearing loss affects approximately 2–4 per 1000 infants, with sensorineural hearing loss being the most prevalent. Major risk factors include genetic alterations, craniofacial anomalies, prematurity, hyperbilirubinemia, and congenital infections such as cytomegalovirus. Despite the program’s success, challenges related to limited parental awareness and disparities in access highlight the need for continuous improvement in screening and follow-up procedures. Additionally, gene therapy is emerging as a promising treatment for hearing loss. While still experimental, gene therapy could become a key complementary treatment option in the future, offering new hope for those with hearing impairments. Full article
(This article belongs to the Special Issue New Advances in Prenatal Diagnosis and Newborn Screening)

Other

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10 pages, 1688 KB  
Case Report
Second Trimester Ultrasound Diagnosis of External Hydrocephalus in Two Fetuses with Noonan Syndrome—Case Report Series
by Tibor Elekes, Aniko Ladanyi, Eva Pap, Janos Szabo, Anett Illes, Nora Gullai and Szabolcs Varbiro
J. Clin. Med. 2025, 14(11), 3973; https://doi.org/10.3390/jcm14113973 - 4 Jun 2025
Viewed by 1040
Abstract
Background: Noonan syndrome (NS) is a relatively common RASopathy that can be associated with a variety of phenotypic and genotypic variations and potential long-term health consequences. Its most described prenatal ultrasound features in the first trimester are thickened nuchal translucency (NT) and dilated [...] Read more.
Background: Noonan syndrome (NS) is a relatively common RASopathy that can be associated with a variety of phenotypic and genotypic variations and potential long-term health consequences. Its most described prenatal ultrasound features in the first trimester are thickened nuchal translucency (NT) and dilated jugular sacs; while heart defects, polyhydramnios and facial dysmorphisms are its known manifestations in the second and third trimesters. Methods: We present two cases of NS with the prenatal ultrasound diagnosis of external hydrocephalus (EH) in the second trimester. Results: Case 1 had a normal first trimester scan and showed mild polyhydramnios, an echogenic intracardiac focus (EIF) in the left ventricle and pyelectasis in the second trimester in association with the EH. The whole exome sequencing (WES) confirmed a pathogenic variant in the SOS1 gene. Case 2 showed increased NT, agenesis of the ductus venosus (DV), single umbilical artery (SUA), an EIF in the right ventricle and an abnormal prefrontal space ratio (PSFR). By the 19th gestational week, EH appeared. The ambient and quadrigeminal cisterns were also slightly widened. The WES revealed a PTPN11 gene variant. Conclusions: The most reported sonographic features of NS are either non-specific or difficult to integrate into routine screening, requiring substantial experience. In our two cases, we detected EH in the second trimester, which is rarely described as a prenatal ultrasound diagnosis. To our current knowledge, this is the first case reported of EH in NS caused by an SOS1 gene variant and these are the first cases reported with the prenatal sonographic diagnosis of EH in NS. Full article
(This article belongs to the Special Issue New Advances in Prenatal Diagnosis and Newborn Screening)
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