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Children
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New Trends in Perinatal and Pediatric Epidemiology
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New Trends in Perinatal and Pediatric Epidemiology

A special issue of Children (ISSN 2227-9067).

Deadline for manuscript submissions: 5 September 2024 | Viewed by 582

Special Issue Editor

Dr. Artur Beke

E-Mail Website
Guest Editor
1st Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary
Interests: perinatology; prenatal diagnostics; obstetric genetics

Special Issue Information

Dear Colleagues,

New Trends in perinatal and pediatric epidemiology perinatology and pediatric epidemiology are closely related disciplines of obstetrics (fetal and maternal medicine) and pediatrics (neonatology). Science is developing rapidly. More and more diseases are being classified into increasing numbers of subtypes, primarily due to the diversity of the genetic background. Prenatal diagnostics and genetics are developing rapidly. Newer procedures, like CMA and WES, enable more tests to take place. In addition to statistical calculations, the processing of causes is also an important task of epidemiology. We welcome authors to provide their latest results on a particular topic and a summary of their previous results, and we are particularly interested in meta-analyses and more interesting case reports, as well as descriptions of rare diseases.

Dr. Artur Beke
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. Children 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 2400 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

  • craniospinal malformations
  • genetic background
  • epidemiology
  • perinatal care
  • prenatal diagnostics

Published Papers (1 paper)

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Research

14 pages, 557 KiB  
Article
Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up
by Virág Bartek, István Szabó, Ágnes Harmath, Gábor Rudas, Tidhar Steiner, Attila Fintha, Nándor Ács and Artúr Beke
Children 2024, 11(7), 797; https://doi.org/10.3390/children11070797 - 28 Jun 2024
Viewed by 360
Abstract
Introduction: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis). The corpus callosum dys- or agenesis is a rare disease (1:4000 live [...] Read more.
Introduction: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis). The corpus callosum dys- or agenesis is a rare disease (1:4000 live births), but it can have serious mental effects. Methods: In our study, we processed the data of 64 pregnant women. They attended a prenatal diagnostic center and genetic counseling from 2005 to 2019 at the Department of Obstetrics and Gynecology at Semmelweis University. Results: The pregnancies had the following outcomes: 52 ended in delivery, 1 in spontaneous abortion, and 11 in termination of pregnancy (TOP) cases (n = 64). The average time of detection with imaging tests was 25.24 gestational weeks. In 16 cases, prenatal magnetic resonance imaging (MRI) was performed. If the abnormality was detected before the 20th week, a genetic test was performed on an amniotic fluid sample obtained from a genetic amniocentesis. Karyotyping and cytogenetic tests were performed in 15 of the investigated cases. Karyotyping gave normal results in three cases (46,XX or XY). In one of these cases, postnatally chromosomal microarray (CMA) was later performed, which confirmed Aicardi syndrome (3q21.3–21.1 microdeletion). In one case, postnatally, the test found Wiedemann–Rautenstrauch syndrome. In other cases, it found X ring, Di George syndrome, 46,XY,del(13q)(q13q22) and 46,XX,del(5p)(p13) (Cri-du-chat syndrome). Edwards syndrome was diagnosed in six cases, and Patau syndrome in one case. Conclusions: We found that corpus callosum abnormalities are often linked to chromosomal problems. We recommend that a cytogenetic test be performed in all cases to rule out inherited diseases. Also, the long-term outcome does not just depend on the disease’s severity and the associated other conditions, and hence proper follow-up and early development are also key. For this reason, close teamwork between neonatology, developmental neurology, and pediatric surgery is vital. Full article
(This article belongs to the Special Issue New Trends in Perinatal and Pediatric Epidemiology)
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