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Medicina
Special Issues
Prenatal Diagnosis, Management and Postnatal Outcome in Fetuses
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Prenatal Diagnosis, Management and Postnatal Outcome in Fetuses

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Obstetrics and Gynecology".

Deadline for manuscript submissions: closed (1 January 2024) | Viewed by 2333

Special Issue Editors

Dr. Elena S. Bernad

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, “Victor Babes” University of Medicine and Pharmacy, Timisoara, Romania
Interests: gynecology; obstetrics, gynecological oncology; genetics; endocrinology and reproductive medicine; ethics; medical education; research design, epidemiology, and statistics; computer applications
Special Issues, Collections and Topics in MDPI journals
Dr. Tibor Novák

E-Mail Website
Guest Editor
Obstetrics and Gynecology Department, University of Szeged, Szeged, Hungary
Interests: infertility; hysteroscopy; gynecological endoscopy; endometriosis; gynecological oncology; prematurity; intrauterine growth restriction; placenta

Special Issue Information

Dear Colleagues,

Pregnancy care through the application of screening and diagnostic methods has seen a spectacular evolution in the last decades. Fetal medicine usually requires the formation of a multidisciplinary team to evaluate the particularities of the case. Depending on the detected fetal pathology, it is essential to apply, where possible, an appropriate therapy to improve the fetal prognosis. These cases require more careful monitoring of the pregnancy and establishing the optimal moment to complete the course of the pregnancy to provide the best fetal outcomes. Information and communication with the patient and the relatives are essential in managing these cases. This Special Issue aims to offer the possibility of disseminating medical information related to this topic, thereby realizing the potential of an actual exchange of experience between specialists in perinatal medicine from all over the world. The Special Issue collects original research, manuscripts, short communications, reviews, and case reports.

Dr. Elena S. Bernad
Dr. Tibor Novák
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at mdpi.longhoe.net 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. Medicina 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 2200 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

  • perinatal medicine
  • fetal malformation
  • fetal ultrasound
  • genetics
  • intrauterine growth restriction
  • placenta
  • prematurity

Published Papers (1 paper)

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10 pages, 2052 KiB  
Case Report
Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report
by Radu Vlădăreanu, Călina Maier, Raluca Tocariu, Marcela Șerban and Elvira Brătilă
Medicina 2023, 59(10), 1838; https://doi.org/10.3390/medicina59101838 - 16 Oct 2023
Viewed by 2087
Abstract
The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as [...] Read more.
The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases. Full article
(This article belongs to the Special Issue Prenatal Diagnosis, Management and Postnatal Outcome in Fetuses)
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