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Diagnostics
Special Issues
Molecular Diagnosis of Maternal-Fetal Diseases
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Molecular Diagnosis of Maternal-Fetal Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (25 March 2022) | Viewed by 5814

Special Issue Editor

Prof. Dr. Ming Chen

E-Mail Website
Guest Editor
Changhua Christian Hospital Medical Center, Changhua, Taiwan
Interests: medical genetics; clinical genomics; prenatal diagnosis; fetal medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Maternal-fetal medicine (MFM) is a major subspecialty of obstetrics and gynecology, and its progress and complexity in recent years have sky-rocketed. Many new molecular and genetic modalities for screening/diagnosis have been introduced into clinical practice, and the landscape of MFM has changed dramatically in comparison to the condition even one decade ago. Screening tests like preeclampsia risk estimation, maternal serum fetal aneuploidy screening, screening for neural tube defects, non-invasive prenatal testing, etc. have emerged one after another with dazzling speed. Meanwhile, diagnostic tests have also evolved from karyotyping, fluorescence in situ hybridization, quantitative polymerase chain reaction, linkage analysis, and capillary-electrophoresis-based Sanger sequencing, to chromosome microarrays and next-generation sequencing (including whole-exome sequencing or even whole-genome sequencing). On the other hand, one recent seminal study in Nature also demonstrated that human placenta is the only non-malignant human tissue to have extensive chromosomal and genomic aberrations, of which such somatic mutations are prevalent in human cancers. The molecular diagnosis of maternal fetal medicine is therefore an interesting and important topic to explore. Here we encourage our colleagues to submit their work to this Special Issue. We welcome the submission of reviews, perspective papers, original research articles, research letters, technical notes, and case series/reports.

Prof. Dr. Ming Chen
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. Diagnostics 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.

Published Papers (2 papers)

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Research

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8 pages, 551 KiB  
Article
The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole
by Leticia Benítez, Montse Pauta, Cèlia Badenas, Irene Madrigal, Alfons Nadal, Edda Marimon and Antoni Borrell
Diagnostics 2021, 11(10), 1811; https://doi.org/10.3390/diagnostics11101811 - 30 Sep 2021
Cited by 2 | Viewed by 2055
Abstract
Objective: the aim of our study was to assess the contribution of quantitative fluorescent polymerase chain reaction (QF-PCR) and pathology studies in the diagnosis of diandric triploidies/partial hydatidiform moles. Methods: this study included all fet al triploidies diagnosed by QF-PCR in chorionic villi [...] Read more.
Objective: the aim of our study was to assess the contribution of quantitative fluorescent polymerase chain reaction (QF-PCR) and pathology studies in the diagnosis of diandric triploidies/partial hydatidiform moles. Methods: this study included all fet al triploidies diagnosed by QF-PCR in chorionic villi or amniotic fluid in the 2 centers of BCNatal in which a maternal saliva sample was used to establish its parental origin. Pathology studies were performed in products of conception and concordance between a partial hydatidiform mole diagnosis and the finding of a diandric triploidy was assessed. Results: among 46 fetal triploidies, found in 13 ongoing pregnancies and in 33 miscarriages, there were 26 (56%) diandric triploidies. Concordant molecular (diandric triploidy) and pathology results (partial mole) were achieved in 14 cases (54%), while in 6 cases (23%) pathology studies were normal, and in the remaining 6 cases (23%) pathology studies could not be performed because miscarriage was managed medically. Conclusions: diandric triploidy is associated with partial hydatidiform mole and its diagnosis is crucial to prevent the development of persistent trophoblastic disease. QF-PCR analysis in chorionic villi or amniotic fluid provides a more accurate diagnosis of the parental origin of triploidy than the classical pathology studies. Full article
(This article belongs to the Special Issue Molecular Diagnosis of Maternal-Fetal Diseases)
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Review

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11 pages, 288 KiB  
Review
Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview
by Giulia Sabbatinelli, Donatella Fantasia, Chiara Palka, Elisena Morizio, Melissa Alfonsi and Giuseppe Calabrese
Diagnostics 2021, 11(12), 2239; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11122239 - 30 Nov 2021
Cited by 9 | Viewed by 2771
Abstract
Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of [...] Read more.
Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of high-efficiency separation technologies is necessary to obtain the scarce fetal cells from the maternal circulation. Over the years, multiple approaches have been applied, including choice of the ideal cell targets, different cell recovering technologies, and refined cell isolation yield procedures. In order to provide a useful tool and to give insights about limitations and advantages of the technologies available today, we review the genetic research on the creation and validation of non-invasive prenatal diagnostic testing protocols based on the rare and labile circulating fetal cells during pregnancy. Full article
(This article belongs to the Special Issue Molecular Diagnosis of Maternal-Fetal Diseases)
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