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Personalized Approaches to Prenatal Screening and Diagnosis
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Personalized Approaches to Prenatal Screening and Diagnosis

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Clinical Medicine, Cell, and Organism Physiology".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 3885

Special Issue Editor

Dr. Cristina Gug

E-Mail Website
Guest Editor
Discipline of Medical Genetics, Department of Microscopic Morphology, “Victor Babes” University of Medicine and Pharmacy, Timisoara, Romania
Interests: genetics; genetic tests; noninvasive prenatal screening; invasive prenatal diagnosis

Special Issue Information

Dear Colleagues,

Prenatal screening and diagnosis play a pivotal role in identifying and managing potential risks and complications during pregnancy. However, the one-size-fits-all approach often fails to account for the individualized needs and preferences of expectant parents. This Special Issue seeks to address this limitation by emphasizing the importance of personalized medicine in prenatal care. By considering factors such as maternal age, family history, and individual genetic variations, personalized approaches aim to provide tailored and more accurate information, facilitating informed decision making and optimizing outcomes for both mother and baby.

The Special Issue on "Personalized Approaches to Prenatal Screening and Diagnosis" presents a comprehensive exploration of the rapidly evolving field of prenatal care. This issue aims to shed light on the advancements, challenges, and future directions in the field. We invite you to submit original research, clinical studies, systematic or state-of-the-art reviews, or other related submissions.

Dr. Cristina Gug
Guest Editor

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 Personalized Medicine 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 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

  • prenatal genetic screening
  • prenatal genetic diagnosis
  • prenatal genetic testing
  • genetic counseling

Published Papers (5 papers)

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Research

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16 pages, 256 KiB  
Article
Differences in Person-Centered Care in Fetal Care Centers: Results from the U.S. Pilot Study of the PCC-FCC Scale
by Abigail B. Wilpers, Katie Francis, Amy B. Powne, Lonnie Somers, Yunyi Ren, Katherine Kohari and Scott A. Lorch
J. Pers. Med. 2024, 14(7), 772; https://doi.org/10.3390/jpm14070772 - 20 Jul 2024
Viewed by 240
Abstract
Objective: We report findings from a U.S. mixed-methods pilot study of the Person-Centered Care in Fetal Care Centers (PCC-FCC) Scale. Methods: Participants, who received care at a U.S. Fetal Care Center (FCC) between 2017 and 2021, completed an online questionnaire providing sociodemographic details, [...] Read more.
Objective: We report findings from a U.S. mixed-methods pilot study of the Person-Centered Care in Fetal Care Centers (PCC-FCC) Scale. Methods: Participants, who received care at a U.S. Fetal Care Center (FCC) between 2017 and 2021, completed an online questionnaire providing sociodemographic details, specifics about the care received, qualitative experiences, and scores from the PCC-FCC Scale. Results: Participants’ (n = 247) PCC-FCC scores and qualitative feedback indicate high perceived person-centered care (PCC), particularly in areas of care coordination, respectful care, and patient education. However, 8% scored below the midpoint, and 38% of comments were negative, especially regarding expectation setting, preparation for post-intervention maternal health, and psychosocial support. Public insurance was associated with higher total PCC-FCC (p = 0.03) and Factor 2 scores (p = 0.02) compared to those with private insurance. The qualitative themes trust, clarity, comprehensive care, compassion, and belonging further elucidate the concept of PCC in FCCs. Conclusion: The PCC-FCC Scale pilot study revealed strong overall PCC in FCCs, yet variability in patient experiences suggests areas needing improvement, including expectation setting, preparation for post-intervention maternal health, and psychosocial support. Future research must prioritize diverse samples and continued mixed methodologies to better understand the role of insurance and identify other potential disparities, ensuring comprehensive representation of the FCC patient population. Full article
(This article belongs to the Special Issue Personalized Approaches to Prenatal Screening and Diagnosis)
12 pages, 595 KiB  
Article
Predictive Role of Maternal Laboratory Parameters and Inflammatory Scores in Determining Systemic Inflammatory Response Syndrome in Newborns at Birth
by Manuela Pantea, Chaitanya Kalapala, Barkha Rani Thakur, Daniela Iacob, Claudia Ioana Borțea, Alexandra Herlo, Felicia Marc, Sonia Tanasescu and Adina Bucur
J. Pers. Med. 2024, 14(7), 672; https://doi.org/10.3390/jpm14070672 - 22 Jun 2024
Viewed by 581
Abstract
The incidence of Neonatal Systemic Inflammatory Response Syndrome (SIRS) is a critical concern in neonatal care. This study aimed to identify maternal laboratory parameters predictive of SIRS in newborns, focusing on the establishment of diagnostic cutoffs and evaluating the predictive power of these [...] Read more.
The incidence of Neonatal Systemic Inflammatory Response Syndrome (SIRS) is a critical concern in neonatal care. This study aimed to identify maternal laboratory parameters predictive of SIRS in newborns, focusing on the establishment of diagnostic cutoffs and evaluating the predictive power of these biomarkers. This prospective cohort study was conducted from January 2023 to January 2024 across several regional hospitals specializing in neonatal care. It included 207 mother-newborn pairs, divided into groups based on the neonatal development of SIRS (66 cases) or its absence (141 controls). Key maternal parameters measured included inflammatory markers and liver enzymes, analyzed using standard biochemical methods. The study applied receiver operating characteristic (ROC) analysis to establish optimal cutoff values and conducted multivariate logistic regression to determine hazard ratios (HRs) for SIRS prediction, with adjustments for potential confounders. The study identified significant ROC/AUC values for several biomarkers. The neutrophil-to-lymphocyte ratio (NLR) demonstrated an AUC of 0.926, with a cutoff value of 3.64, achieving 81.8% sensitivity and 90.9% specificity (p < 0.001). The systemic immune–inflammation index (SII) showed an AUC of 0.819 and a cutoff of 769.12, with 75.8% sensitivity and 81.8% specificity (p < 0.001). Multivariate regression analysis highlighted that neonates with maternal SII values above this cutoff were three times more likely to develop SIRS (HR 3.09, 95% CI 2.21–4.17, p < 0.0001). Other notable biomarkers included dNLR and ALRI, with respective HRs of 1.88 (p = 0.018) and 1.75 (p = 0.032). These findings confirm the significant predictive value of specific maternal inflammatory markers for neonatal SIRS. These findings support the utility of these biomarkers in prenatal screening to identify neonates at increased risk of SIRS, potentially guiding preemptive clinical interventions. Full article
(This article belongs to the Special Issue Personalized Approaches to Prenatal Screening and Diagnosis)
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17 pages, 10416 KiB  
Article
Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing
by Miruna Gug, Adrian Rațiu, Nicoleta Andreescu, Simona Farcaș, Sorina Laitin and Cristina Gug
J. Pers. Med. 2024, 14(4), 366; https://doi.org/10.3390/jpm14040366 - 29 Mar 2024
Cited by 2 | Viewed by 930
Abstract
This study represents our second investigation into NIPT, involving a more extensive patient cohort with a specific emphasis on the high-risk group. The high-risk group was subsequently divided into two further groups to compare confirmed cases versus unconfirmed via direct methods. The methodology [...] Read more.
This study represents our second investigation into NIPT, involving a more extensive patient cohort with a specific emphasis on the high-risk group. The high-risk group was subsequently divided into two further groups to compare confirmed cases versus unconfirmed via direct methods. The methodology encompassed the analysis of 1400 consecutive cases from a single genetic center in western Romania, where NIPT was used to assess the risk of specific fetal chromosomal abnormalities. All high-risk cases underwent validation through direct analysis of fetal cells obtained via invasive methods, including chorionic villus sampling and amniocentesis. The confirmation process utilized QF-PCR, karyotyping, and SNP-Array methods customized to each case. Results: A high risk of aneuploidy at NIPT was identified in 36 out of 1400 (2.57%) cases and confirmed in 28 cases. The study also detected an increased risk for copy number variations (CNVs) in 1% of cases, confirmed in two instances involving one large microdeletion and one large microduplication. Trisomy 21 was the exclusive anomaly where NIPT confirmed all cases with identified risk. High-risk NIPT results which were not validated by invasive methods, were classified as false positives; parents in these cases determined to continue the pregnancy. In conclusion, NIPT can serve as a screening method for all pregnancies; however, in high-risk cases, an invasive confirmation test is strongly recommended. Full article
(This article belongs to the Special Issue Personalized Approaches to Prenatal Screening and Diagnosis)
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11 pages, 2280 KiB  
Article
Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array
by Irina Ioana Iordănescu, Andreea Catana, Zina Barabas Cuzmici, Iuliana Chelu, Cristina Dragomir, Maria Militaru, Emilia Severin and Mariela Sanda Militaru
J. Pers. Med. 2024, 14(3), 290; https://doi.org/10.3390/jpm14030290 - 8 Mar 2024
Viewed by 1279
Abstract
We present a series of microdeletion and microduplication syndromes (MMSs) observed in our clinical practice over a three-year period from 2020 to 2023. Microdeletion and microduplication syndromes, characterized by chromosomal deletions or duplications of less than five megabases, pose challenges in terms of [...] Read more.
We present a series of microdeletion and microduplication syndromes (MMSs) observed in our clinical practice over a three-year period from 2020 to 2023. Microdeletion and microduplication syndromes, characterized by chromosomal deletions or duplications of less than five megabases, pose challenges in terms of diagnosis, especially prenatal and clinical management. Clinically, MMSs encompass a broad spectrum of manifestations, ranging from intellectual disability and developmental delays to congenital anomalies, facial dysmorphisms, and neurobehavioral abnormalities. Notable examples include well-characterized syndromes such as DiGeorge syndrome (22q11.2 deletion), Prader–Willi syndrome (15q11–q13 deletion), and Williams syndrome (7q11 deletion). Our study focuses on the genetic foundations and prenatal ultrasound findings of these syndromes, with an emphasis on cases associated with intellectual disability. Using SNP array technology, we delve into the evolving landscape of diagnostic methods, providing a nuanced understanding of copy number variations (CNVs) and their implications. Prenatal diagnosis allows for the early detection of MMSs, enabling parents and healthcare providers to make informed decisions about the pregnancy and plan for appropriate medical care and interventions. Beyond theoretical considerations, our article bridges the gap between research and practical application by offering insights derived from clinical cases. Through the presentation of specific cases, we aim to contribute valuable data to the broader discourse on MMSs, fostering knowledge exchange and enhancing the medical community’s awareness of these complex genetic conditions. Full article
(This article belongs to the Special Issue Personalized Approaches to Prenatal Screening and Diagnosis)
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Review

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19 pages, 335 KiB  
Review
The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling—A Narrative Review
by Mariela Sanda Militaru, Ioana-Mădălina Babliuc, Vanesa-Larisa Bloaje-Florică, Valentin-Adrian Danci, Iulia Filip-Deac, Enikő Kutasi, Vasile Simon, Mihai Militaru and Andreea Cătană
J. Pers. Med. 2024, 14(7), 774; https://doi.org/10.3390/jpm14070774 - 21 Jul 2024
Viewed by 312
Abstract
Genetic disorders represent a high-impact diagnosis for both patients and their families. Prenatal screening methods and, when recommended, genetic testing allow parents to make informed decisions about the course a pregnancy is going to take. Although offering certainty about the potential evolution and [...] Read more.
Genetic disorders represent a high-impact diagnosis for both patients and their families. Prenatal screening methods and, when recommended, genetic testing allow parents to make informed decisions about the course a pregnancy is going to take. Although offering certainty about the potential evolution and prognosis of the pregnancy, and then the newborn, is usually not possible, genetic counseling can offer valuable insights into genetic disorders. Chromosomal mosaicisms are genetic anomalies that affect only some cell lines in either the fetus or the placenta or both. They can affect autosomal or heterosomal chromosomes, and they can be either numerical or structural. The prognosis seems to be more severe if the genetic alterations are accompanied by malformations visible in ultrasounds. Several genetic techniques can be used to diagnose certain mosaicisms, depending on their nature. A novel approach in prenatal care is non-invasive prenatal screening (NIPS), also known as non-invasive prenatal testing (NIPT), which, although it does not always have diagnostic value, can provide valuable information about potential genetic anomalies, especially numerical, with high sensitivity (Se). Full article
(This article belongs to the Special Issue Personalized Approaches to Prenatal Screening and Diagnosis)
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