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Reprod. Med.
Special Issues
Recent Advances in Prenatal Medicine
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Recent Advances in Prenatal Medicine

A special issue of Reproductive Medicine (ISSN 2673-3897).

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 3275

Special Issue Editor

Prof. Dr. Bettina Blaumeiser

E-Mail Website
Guest Editor
Center of Medical Genetics UZA/UA, Antwerp University Hospital, 2000 Antwerp, Belgium
Interests: prenatal diagnosis; preimplantation genetic testing; genetic counselling; genetic diagnosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Preconceptional, preimplantation, and prenatal medicine is a rapidly expanding field with new diagnostic possibilities due to developments in the areas of genetic and molecular diagnosis. These new prospects also pose novel challenges regarding the interpretation of results and ethical considerations. This Special Issue on Recent Advances in Prenatal Medicine aims to publish papers expounding new insights in the area of fetal and maternal medicine.

Prof. Dr. Bettina Blaumeiser
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. Reproductive Medicine is an international peer-reviewed open access quarterly 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 1000 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

  • preconceptional medicine
  • preimplantation medicine
  • prenatal medicine

Published Papers (1 paper)

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8 pages, 5061 KiB  
Case Report
Tetrasomy 9p, a Prenatal Challenge: Two Novel Cases
by Mahtab Zaghi, Katrien Janssens, Wim Hectors, Philip Loquet and Bettina Blaumeiser
Reprod. Med. 2022, 3(1), 42-49; https://0-doi-org.brum.beds.ac.uk/10.3390/reprodmed3010005 - 08 Mar 2022
Cited by 1 | Viewed by 2584
Abstract
Tetrasomy 9p is a chromosomal disorder characterized by the presence of a supernumerary chromosome. This rare abnormality exhibits a broad phenotypic variability and is not clearly distinguishable from other more frequent aneuploidies in the prenatal setting. We present two prenatal cases with dissimilar [...] Read more.
Tetrasomy 9p is a chromosomal disorder characterized by the presence of a supernumerary chromosome. This rare abnormality exhibits a broad phenotypic variability and is not clearly distinguishable from other more frequent aneuploidies in the prenatal setting. We present two prenatal cases with dissimilar phenotypes, one with solely increased fetal nuchal translucency and one with multiple congenital anomalies, and discuss prior studies. These cases illustrate the difficulty of prenatally diagnosing this condition based on phenotypic information alone. We conclude that invasive prenatal diagnosis with (molecular) karyotyping is the best choice for the prenatal detection of tetrasomy 9p. Full article
(This article belongs to the Special Issue Recent Advances in Prenatal Medicine)
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