Novel Insights into Prenatal Genetic Testing (Volume II)

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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• prenatal genetic testing
• bioinformatic analysis
• genome sequencing
• variant interpretation
• genomic variants
• variant database
• fetal structural anomalies