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Advances in Prenatal Genetic Screening
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Advances in Prenatal Genetic Screening

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 January 2022) | Viewed by 5918

Special Issue Editors

Dr. Annafranca Cavaliere

E-Mail Website
Guest Editor
1. Department of Obstetrics and Gynecology, USL Toscana Centro, Santo Stefano Hospital, Prato, Italy
2. Università Cattolica del Sacro Cuore – Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy
Interests: perinatal medicine; infectious disease and pregnancy; congenital anomalies; teratology; placenta abnormalities
Special Issues, Collections and Topics in MDPI journals
Dr. Fabrizio Signore

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, Sant’Eugenio Hospital, Roma, Italy
Interests: gynecologic oncology; robotic surgery; genetics; prenatal medicine; legal medicine; maternal immunization
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Prenatal non-invasive screening tests changed dramatically following the introduction of cell-free DNA screening. Starting with the common aneuploidies, the spectrum of chromosomal aberrations that may be explored by cfDNA testing thereafter expanded and now includes subchromosomal aneuploidies such as microdeletion and microduplication. Whether this is beneficial in clinical practice has yet to be ascertained: limited data about outcomes are available, positive predictive value for these aberrations are lower and therefore indistinct use of these tests may lead to an increase in invasive confirmatory testing. Moreover, protocols for the implementation of these tests in the management of pregnancies are lacking.

In this Special Issue, we welcome reviews, new methods, and original articles covering new applications of cell-free DNA testing, as well as its implementation in clinical practice. We look forward to your contributions in this field.

Dr. Annafranca Cavaliere
Dr. Fabrizio Signore
Guest Editors

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. Genes 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 screening
  • Prenatal diagnosis
  • Cell-free DNA
  • Aneuploidies
  • Subchromosomal abnormalities

Published Papers (2 papers)

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Research

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14 pages, 592 KiB  
Article
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
by Katarzyna Kowalczyk, Magdalena Bartnik-Głaska, Marta Smyk, Izabela Plaskota, Joanna Bernaciak, Marta Kędzior, Barbara Wiśniowiecka-Kowalnik, Krystyna Jakubów-Durska, Natalia Braun-Walicka, Artur Barczyk, Maciej Geremek, Jennifer Castañeda, Anna Kutkowska-Kaźmierczak, Paweł Własienko, Marzena Dębska, Anna Kucińska-Chahwan, Tomasz Roszkowski, Szymon Kozłowski, Boyana Mikulska, Tadeusz Issat, Ewa Obersztyn and Beata Anna Nowakowskaadd Show full author list remove Hide full author list
Genes 2021, 12(12), 2021; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12122021 - 19 Dec 2021
Cited by 8 | Viewed by 2626
Abstract
Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) [...] Read more.
Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases. Full article
(This article belongs to the Special Issue Advances in Prenatal Genetic Screening)
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Review

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12 pages, 469 KiB  
Review
The Special Features of Prenatal and Preimplantation Genetic Counseling in Arab Countries
by Shaza D. Malik, Mashael Al-Shafai and Atiyeh M. Abdallah
Genes 2022, 13(2), 167; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13020167 - 18 Jan 2022
Cited by 5 | Viewed by 2856
Abstract
Genetic counseling services have only recently been introduced in most Arab countries, and their utilization is increasing. Prenatal genetic counseling is essential, particularly in the Arab context, which is characterized by high rates of consanguinity. Nevertheless, little is known about the decisions faced [...] Read more.
Genetic counseling services have only recently been introduced in most Arab countries, and their utilization is increasing. Prenatal genetic counseling is essential, particularly in the Arab context, which is characterized by high rates of consanguinity. Nevertheless, little is known about the decisions faced by parents and the factors underlying the complex decision making that must occur when accessing these services in Arab countries. Herein, we performed a narrative review to discuss the reported experiences of parents accessing genetic counseling in the prenatal setting in the 22 Arab countries. We also highlight the different types of decisions encountered and the factors influencing them. We report that: (i) utilization of genetic counseling services varies across different Arab countries; (ii) many factors affect decision making and service utilization, especially religion; and (iii) parents are faced with an array of decisions in the prenatal setting, partly driven by increased utilization of prenatal diagnosis and preimplantation genetic testing in some countries. Our work is the first to highlight the different factors and decisions influencing genetic counseling in Arab countries. Understanding these factors is essential for improving genetic counseling services in the region and helping counselors facilitate informed decision making. Full article
(This article belongs to the Special Issue Advances in Prenatal Genetic Screening)
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