Recognizing Genetics' Influence on Perinatal Health and Inherited Conditions

Maria Pamela^*
*Correspondence: Maria Pamela, Department of Nursing, University of Granada, 18071 Granada, Spain, Email:

Keywords

Perinatal health • Mutations • Genetic screening

Introduction

Inherited conditions, also known as genetic disorders, arise from mutations or alterations in the DNA sequence. These mutations can occur in various forms, including single-gene mutations (monogenic disorders), chromosomal abnormalities, and complex genetic conditions involving multiple genes and environmental factors. Inherited conditions can be passed from parent to child through various inheritance patterns, including autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance [1].

Literature Review

These mutations occur in a specific gene and are responsible for many well-known inherited conditions, such as cystic fibrosis, sickle cell anemia, and Huntington's disease. Single-gene disorders can follow different inheritance patterns, which affect the likelihood of transmission to offspring. These involve changes in the structure or number of chromosomes. Down syndrome, for example, is caused by an extra copy of chromosome 21 (trisomy 21). Other examples include Turner syndrome and Klinefelter syndrome, which result from abnormalities in the sex chromosomes. These are influenced by multiple genes and often involve environmental factors. Conditions such as heart disease, diabetes, and some forms of cancer fall into this category. The inheritance of these conditions is less predictable than single-gene disorders. Only one copy of the mutated gene, inherited from either parent, is enough to cause the disorder. An affected parent has a 50% chance of passing the condition to their offspring. Examples include Marfan syndrome and neurofibromatosis. Both parents must carry and pass on a copy of the mutated gene for the offspring to be affected. Carriers, who have only one copy of the mutated gene, do not typically show symptoms. Conditions such as cystic fibrosis and Tay-Sachs disease follow this pattern. The mutated gene is located on the X chromosome. In X-linked recessive conditions, males are more likely to be affected because they have only one X chromosome. Females may be carriers and can pass the condition to their sons. Hemophilia and Duchenne muscular dystrophy are examples. Mitochondria, the energyproducing structures in cells, have their own DNA, which is inherited solely from the mother. Mutations in mitochondrial DNA can lead to conditions affecting energy production, such as mitochondrial myopathy [2-4].

Discussion

Genetic counseling plays a crucial role in perinatal health by helping individuals and families understand the implications of genetic information. Genetic counselors provide guidance on the risks, benefits, and limitations of genetic testing, and they help families make informed decisions about pregnancy and child-rearing. Genetic counselors assess the likelihood of inherited conditions based on family history, genetic test results, and other factors. They can estimate the risk of passing on a genetic disorder and discuss options for managing that risk. The potential for inherited conditions can be a source of significant emotional stress for expectant parents. Genetic counselors provide support and resources to help families cope with the uncertainty and challenges associated with genetic risks. Couples faced with the possibility of a genetic disorder must make difficult decisions about continuing or terminating a pregnancy, undergoing further testing, or pursuing treatment options. Genetic counselors facilitate these discussions, ensuring that families understand their options and the potential outcomes. Recent advancements in gene editing and therapy hold promise for treating inherited conditions before or shortly after birth. Technologies like CRISPR-Cas9 have revolutionized the field, allowing for precise editing of the DNA sequence to correct or eliminate genetic mutations. This gene-editing tool enables scientists to target specific genes and make precise modifications. In the context of perinatal health, CRISPR-Cas9 has the potential to correct genetic defects in embryos or fetuses, potentially preventing inherited conditions before they manifest. Gene therapy involves delivering healthy copies of genes or geneediting tools to cells in the body. For certain inherited conditions, such as spinal muscular atrophy (SMA), gene therapy has shown remarkable success in improving outcomes when administered early in life. While gene editing and therapy offer exciting possibilities, they also raise ethical concerns. Issues such as the potential for unintended genetic changes, the long-term effects of gene editing, and the equitable access to these technologies must be carefully considered [5,6].

Conclusion

The role of genetics in perinatal health is profound, influencing everything from the risk of inherited conditions to the development of personalized treatment strategies. Advances in genetic screening, counseling, and therapy offer new opportunities to improve outcomes for mothers and babies. However, these advances also bring ethical and social challenges that must be carefully navigated. As our understanding of genetics continues to grow, it will be essential to balance the potential benefits of these technologies with the need for equitable, culturally sensitive, and ethically sound healthcare practices. By doing so, we can ensure that the promise of genetics in perinatal health is realized in a way that benefits all families, regardless of their genetic background or circumstances.

Acknowledgement

None.

Conflict of Interest

None.

References

1. Robinson, Barrett K. and William A. Grobman. “Effectiveness of timing strategies for delivery of individuals with placenta previa and accreta.” Obstet Gynecol 116 (2010): 835-842.

   Google Scholar, Crossref, Indexed at

2. Bowman, Zachary S., Tracy A. Manuck, Alexandra G. Eller and Marilee Simons et al. “Risk factors for unscheduled delivery in patients with placenta accreta.” Am J Obstet Gynecol 210 (2014): 241-e1.

   Google Scholar, Crossref, Indexed at

3.  Harlev, A., A. Levy, Y. Zaulan and A. Koifman, et al. “Idiopathic bleeding during the second half of pregnancy as a risk factor for adverse perinatal outcome.” J Matern Fetal Neonatal Med 21 (2008): 331-335.

   Google Scholar, Crossref, Indexed at

4. Wu, Serena, Masha Kocherginsky and Judith U. Hibbard. “Abnormal placentation: Twenty-year analysis.” Am J Obstet Gynecol 192 (2005): 1458-1461.

   Google Scholar, Crossref, Indexed at

5. Hecht, Jonathan L., Rebecca Baergen, Linda M. Ernst and Philip J. Katzman, et al. “Classification and reporting guidelines for the pathology diagnosis of Placenta Accreta Spectrum (PAS) disorders: Recommendations from an expert panel.” Mod Pathol 33 (2020): 2382-2396.

   Google Scholar, Crossref, Indexed at

6. Satoda, Masahiko, Feng Zhao, George A. Diaz and John Burn, et al. “Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.” Nat Genet 25 (2000): 42-46.

   Google Scholar, Crossref, Indexed at