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Life
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Prenatal Diagnosis and Fetal Therapy
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Prenatal Diagnosis and Fetal Therapy

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Reproductive and Developmental Biology".

Deadline for manuscript submissions: closed (14 July 2023) | Viewed by 2516

Special Issue Editor

Prof. Dr. Michael Tchirikov

E-Mail Website
Guest Editor
University Clinic and Outpatient Clinic for Obstetrics and Prenatal Medicine, 06120 Halle, Germany
Interests: fetal therapy; fetoscopy; CDH; PPROM; TTTS; amnion flush method; 29-gauge needle; amniocentesis; prenatal diagnosis; fetal; screening; fetal abnormality; aneuploidy detection; non-invasive diagnosis

Special Issue Information

Dear Colleagues,

Prenatal Diagnosis and Fetal Therapy employ a variety of techniques to determine the health and condition of an unborn fetus. Fetal therapy is a highly specialized field of medicine requiring a careful evaluation of the fetal condition in addition to a precise anatomical definition of malformations or genetic disorders. The success of fetal therapy requires knowledge of the relevant fetal pathophysiology in each case. Microinvasive fetoscopy has become increasingly safe and is now used for several purposes, including the laser coagulation of placental anastomosis in twin-to-twin-transfusion syndrome, tracheal occlusion in fetuses with congenital diaphragmatic hernia, repair of meningomyelocele and other disorders. The treatment of preterm preliminary rupture of the fetal membranes (PPROM) with oligo/anhydramnios using the method of amnion flush with amniotic flush solution was first developed in Germany 2008 and is spreading rapidly worldwide. Invasive intraumbilical supply of growth-restricted human fetuses with placental amino acids and glucose is very promising. Genetic correction in some rare diseases in human during pregnancy is no longer a future concept. The goal of the early detection of a pathologic fetal state and fetal therapy is to favorably alter long-term outcome.

In this Special Issue of Life, we invite researchers from all over the world to share advances in our understanding of genetic and molecular pathways in the pathogenesis of fetal disorders. We invite original works and review articles dealing with new techniques, signaling pathways, novel targets for alternative antibacterial therapy of PPROM, minimally invasive fetal therapy, the presentation of TRIALs in prenatal medicine, and models for predicting prognosis.

Prof. Dr. Michael Tchirikov
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. Life 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 diagnosis
  • human genetic
  • PROM
  • fetal surgery
  • invasive diagnosis
  • soft marker
  • amnion flush method
  • fetal therapy
  • HELLP
  • fetoscopy
  • CDH
  • PPROM
  • TTTS
  • meningomyelocele
  • 29-gauge needle
  • amniocentesis
  • prenatal diagnosis
  • fetal
  • screening
  • fetal abnormality
  • fetal DNA/RNA
  • aneuploidy detection
  • non-invasive diagnosis

Published Papers (2 papers)

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Research

11 pages, 1840 KiB  
Article
Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series
by Aruna Marchetto, Susanne Leidescher, Theresia van Hoi, Niklas Hirschberger, Florian Vogel, Siegmund Köhler, Ivonne Alexandra Bedei, Roland Axt-Fliedner, Moneef Shoukier and Corinna Keil
Life 2024, 14(5), 628; https://doi.org/10.3390/life14050628 - 14 May 2024
Viewed by 449
Abstract
Fryns syndrome (FS) is a multiple congenital anomaly syndrome with different multisystemic malformations. These include congenital diaphragmatic hernia, pulmonary hypoplasia, and craniofacial dysmorphic features in combination with malformations of the central nervous system such as agenesis of the corpus callosum, cerebellar hypoplasia, and [...] Read more.
Fryns syndrome (FS) is a multiple congenital anomaly syndrome with different multisystemic malformations. These include congenital diaphragmatic hernia, pulmonary hypoplasia, and craniofacial dysmorphic features in combination with malformations of the central nervous system such as agenesis of the corpus callosum, cerebellar hypoplasia, and enlarged ventricles. We present a non-consanguineous northern European family with two recurrent cases of FS: a boy with multiple congenital malformations who died at the age of 2.5 months and a female fetus with a complex developmental disorder with similar features in a following pregnancy. Quad whole exome analysis revealed two likely splicing-affecting disease-causing mutations in the PIGN gene: a synonymous mutation c.2619G>A, p.(Leu873=) in the last nucleotide of exon 29 and a 30 bp-deletion c.996_1023+2del (NM_176787.5) protruding into intron 12, with both mutations in trans configuration in the affected patients. Exon skipping resulting from these two variants was confirmed via RNA sequencing. Our molecular and clinical findings identified compound heterozygosity for two novel splice-affecting variants as the underlying pathomechanism for the development of FS in two patients. Full article
(This article belongs to the Special Issue Prenatal Diagnosis and Fetal Therapy)
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11 pages, 3860 KiB  
Article
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
by Margherita Vinciguerra, Filippo Leto, Filippo Cassarà, Viviana Tartaglia, Michela Malacarne, Domenico Coviello, Valentina Cigna, Emanuela Orlandi, Francesco Picciotto, Gaspare Cucinella, Emanuela Salzano, Maria Piccione, Aurelio Maggio and Antonino Giambona
Life 2023, 13(1), 20; https://doi.org/10.3390/life13010020 - 21 Dec 2022
Cited by 1 | Viewed by 1395
Abstract
Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but [...] Read more.
Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. Results: A monoallelic pattern of all Short Tandem Repeats mapped on the X chromosome was found and array-CGH performed on WGA from a few fetal erythroblasts confirmed monosomy X. Conclusion: This report underlines the importance of an early prenatal diagnosis and the countless potentialities of array-CGH that could make definition of molecular karyotype possible from a few fetal cells, unlike conventional cytogenetic techniques that require a greater cellular content. This is the first report of a molecular karyotype obtained from two cells selected by micromanipulation of CF and defined at such an early gestational age. Full article
(This article belongs to the Special Issue Prenatal Diagnosis and Fetal Therapy)
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