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Updated: Nov 18, 2025
09:30
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
3.3K
Current Trends in Genetics and Neonatal Care.
Melissa K Uveges1, Ingrid A Holm
1Boston College, Connell School of Nursing, Chestnut Hill, Massachusetts (Dr Uveges); Division of Genetics and Genomics, Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts (Dr Holm); and Harvard Medical School, Boston, Massachusetts (Dr Holm).
Summary
This review details current genetic and genomic applications for neonates, including newborn screening and pharmacogenomics. It provides essential evidence for nurses to enhance neonatal care quality.
Area of Science:
- Neonatal genetics and genomics
- Evidence-based nursing practice
Background:
- Rapid advancements in genetic and genomic health applications necessitate updated guidance for neonatal care.
- Current nursing practice requires a clear description of these evolving applications.
Purpose of the Study:
- To offer scientific evidence and practical guidance on genetic and genomic applications relevant to neonatal care.
- To support nurses in integrating these advancements into practice.
Main Methods:
- Searches of CINAHL and PubMed databases using keywords: newborn/neonatal, genetics, genomics, newborn screening, pharmacogenomics, ethical, and legal.
- Supplementary Google searches to gather professional guidelines and current practices.
Main Results:
- Comprehensive overview of newborn genetic assessment components, including physical examination, family history, and laboratory tests.
- Description of newborn screening history, processes, and the impact of advanced sequencing technologies (whole exome/genome).
- Exploration of pharmacogenomics in neonates, its research context, and future implications, alongside ethical and legal considerations and resources for nurses.
Conclusions:
- Equipping nurses with up-to-date evidence on genetic and genomic applications is crucial for their active role in quality neonatal care.
- Further research is essential to fully understand the implications of these applications for the neonatal population and future care.
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