Novel Insights into Prenatal Genetic Testing—2nd Edition
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 25 January 2025 | Viewed by 223
Special Issue Editors
Interests: clinical bioinformatics; male infertility; genome sequencing; genomic variants; structural variants; prenatal diagnosis
Special Issues, Collections and Topics in MDPI journals
Interests: prenatal genetic screening; diagnosis and therapy of fetal abnormalities; twin pregnancy; preterm delivery; fetal growth restriction; external cephalic version
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
With the rapid development of technologies (such as next-generation sequencing), up-to-date prenatal genetic testing enables the early and precise diagnosis of fetal genetic defects, and provides the family potential options for early management. However, coming along with the advancement of technologies, the number of genomic variants identified through different genetic tests is dramatically increasing, but most of them are difficult to correlate with the phenotypic presentation(s). On the other hand, even with the most comprehensive approach, such as high-read-depth genome sequencing, there is still a significant proportion of fetuses which received a negative finding. Both provide significant challenges to the laboratories, clinicians and the families to make a decision and provide proper management. In addition, the spectra of clinically significant genomic variants in fetuses with different affected systems/organs as important references are still largely unknown. Lastly, apart from being a cost-effective method, prenatal genetic testing requires rapid turn-around time, a low amount of sample input and the awareness of sample type.
In this Special Issue, we welcome reviews, new methods (facilitating variant identification or interpretation), databases and original articles to address the aforementioned issues of prenatal genetic testing in order to provide novel insights for the readers.
We look forward to your contributions.
Dr. Elvis Zirui Dong
Prof. Dr. Tak Yeung Leung
Guest Editors
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Keywords
- prenatal genetic testing
- bioinformatic analysis
- genome sequencing
- variant interpretation
- genomic variants
- variant database
- fetal structural anomalies
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