In utero gene editing and precision medicine.

Non-invasive Ultra-early in Utero Detection and Precision CRISPR-mediated Correction of Monogenic Embryonic Mutations: A Critical Appraisal of a Hypothetical Therapeutic Framework

Whether that proposition that a pathogenic single-gene variant might be identified non-invasively at the earliest stage of pregnancy and corrected in situ before irreversible pathology develops is presently coherent as a therapeutic framework is examined.

CRISPR-Cas9 Technology in Genetic Disorders: Genome Editing Approaches and Therapeutic Applications – A Review

The potential application of CRISPR technology for the possible management of geneticbased conditions, including sickle-cell anemia, β-thalassemia, cystic fibrosis, and Duchenne muscular dystrophy is described.

Molecular Prenatal Diagnosis of Monogenic Diseases, Towards Non-invasive Procedures.

In this narrative review, we outline the historical progression of, and modern advancements in, prenatal diagnosis for monogenic diseases. Initially dependent on invasive sampling procedures, prenatal diagnosis has evolved through the integration of high-throughput molecular techniques, such as next-generation sequencing. These techniques now allow for the comprehensive detection of pathogenic variants across the genome. A major breakthrough occurred with the discovery of cell-free fetal DNA (cfDNA) in maternal plasma, originating from the placenta. This discovery enabled the development of non-invasive prenatal testing (NIPT), which is now widely used. However, non-invasive prenatal diagnosis (NIPD) for monogenic diseases took longer to develop, mainly due to the need for highly sensitive sequencing methods and sophisticated statistical analysis to determine maternal transmission. Currently, only a few countries have implemented NIPD in clinical settings. The multitude of available technologies and protocols can complicate the information provided during antenatal consultations. However, mastery of the knowledge and ethical issues surrounding NIPD will ensure optimal service and better care for pregnancies at risk of monogenic disease transmission.

Applications and Ethics of Gene Editing Technology in Genetic Disease Treatment

Future development directions lie in integrating artificial intelligence to optimize editing design, perfecting lifelong safety monitoring systems, constructing ethical consensus across multicultural backgrounds, promoting deep synergy between technological innovation and humanistic care, and ultimately achieving a paradigm shift in genetic disease treatment from symptom management to etiological eradication.

The future of pediatric gene therapy: CRISPR-Cas9, AI, and personalized medicine.

Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings

Precision prevention and control of genetic diseases represent a major public health challenge. This paper provides a structured narrative review of advances in molecular diagnostic technologies across the preconception, preimplantation, and prenatal stages over the past five years. In the preconception phase, next-generation sequencing has become central to carrier screening, while long-read sequencing significantly enhances detection capabilities for complex variants. In the preimplantation phase, research has increasingly focused on non-invasive preimplantation genetic testing, leveraging maternal contamination quantification algorithms and deep learning models to address DNA contamination challenges. During the prenatal phase, stratified diagnostic strategies combining chromosomal microarray analysis and whole-exome sequencing have improved the diagnostic evaluation of fetal structural anomalies. Simultaneously, non-invasive prenatal testing is expanding to include microdeletion/duplication and monogenic disease screening, though positive screening results still require invasive diagnostic confirmation. Future trends lie in multi-technology integration, multi-omics data fusion, and artificial intelligence-assisted decision-making, aiming to enhance resolution while balancing health-economic considerations and ethical standards.