Journal of Personalized Medicine

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Special Issue Editor

Dr. Cristina Gug

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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 (2 papers)

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Research

17 pages, 10416 KiB

Open AccessArticle

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

Viewed by 708

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 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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Figure 1

11 pages, 2280 KiB

Open AccessArticle

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 961

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 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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