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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: 20 August 2025 | Viewed by 3877

Special Issue Editors

Dr. Zoltan Kozinszky

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Guest Editor
Capio Specialized Center for Gynecology, 171 45 Solna, Sweden
Interests: molecular, ultrasound and clinical characterization of pregnancy complications; placental histology
Special Issues, Collections and Topics in MDPI journals
Dr. Andrea Suranyi

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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 (3 papers)

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Research

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14 pages, 1238 KiB  
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 1457
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 KiB  
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
Viewed by 1438
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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10 pages, 208 KiB  
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 348
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)
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