Chromosomal Abnormalities: Impact Across Human Health

Helena V. Armitage^*
*Correspondence: Helena V. Armitage, Department of Developmental Genomics, Westford Institute of Biomedical Research, Sydney, Australia, Email:

Introduction

Chromosomal microarray analysis has shown significant clinical utility in prenatal diagnosis, particularly for detecting submicroscopic chromosomal abnormalities not identifiable by traditional karyotyping. It provides a higher diagnostic yield for structural variations and copy number variants in fetuses, offering crucial information for clinical management and genetic counseling [1].

Chromosomal abnormalities are fundamental drivers of tumorigenesis and cancer progression, influencing genomic stability, gene expression, and cellular pathways. Understanding these aberrations provides insight into cancer mechanisms and presents opportunities for targeted therapeutic strategies that exploit cancer cell vulnerabilities [2].

Recurrent pregnancy loss is frequently associated with chromosomal abnormalities in one or both partners, often involving balanced translocations or inversions. Genetic screening and counseling are essential for affected couples to understand recurrence risks and explore reproductive options, including preimplantation genetic testing [3].

Chromosomal microarray analysis is a valuable first-tier diagnostic tool for children presenting with developmental delay and intellectual disability, identifying pathogenic copy number variants missed by conventional karyotyping. Its application significantly improves diagnostic yield, enabling more precise genetic counseling and management strategies [4].

The integration of next-generation sequencing (NGS) with single-nucleotide polymorphism (SNP) arrays offers enhanced detection capabilities for a broad spectrum of chromosomal abnormalities in prenatal diagnosis. This combined approach improves sensitivity and resolution, providing a more comprehensive genetic evaluation for high-risk pregnancies [5].

Chromosomal abnormalities, including numerical and structural rearrangements, are significant genetic factors contributing to male infertility. Karyotyping and molecular cytogenetic techniques are crucial for identifying these aberrations, guiding prognosis, and informing assisted reproductive technologies [6].

A substantial proportion of children with congenital heart disease present with underlying chromosomal abnormalities, ranging from aneuploidies to microdeletions and duplications. Comprehensive genetic evaluation is vital for identifying these associations, influencing clinical management, and providing accurate genetic counseling to families [7].

Chromosomal abnormalities and copy number variations (CNVs) are recognized genetic contributors to autism spectrum disorder (ASD), with a significant subset of individuals displaying identifiable genomic changes. Genetic screening is important for diagnosing specific etiologies in ASD, which can inform prognosis and therapeutic interventions [8].

Recurrent chromosomal abnormalities are critical prognostic markers in adult acute myeloid leukemia (AML), dictating disease classification, treatment response, and long-term outcomes. Precise cytogenetic and molecular profiling is essential for risk stratification and tailoring individualized therapeutic approaches for AML patients [9].

Non-invasive prenatal testing (NIPT) has revolutionized prenatal screening for major aneuploidies and certain microdeletion syndromes, demonstrating high accuracy and sensitivity. While not diagnostic, NIPT effectively stratifies risk, reducing the need for invasive procedures and offering a safe early screening option for chromosomal abnormalities [10].

Description

Chromosomal microarray analysis has shown significant clinical utility in prenatal diagnosis, particularly for detecting submicroscopic chromosomal abnormalities not identifiable by traditional karyotyping. It provides a higher diagnostic yield for structural variations and copy number variants in fetuses, offering crucial information for clinical management and genetic counseling [1]. The integration of Next-Generation Sequencing (NGS) with Single-Nucleotide Polymorphism (SNP) arrays offers enhanced detection capabilities for a broad spectrum of chromosomal abnormalities in prenatal diagnosis. This combined approach improves sensitivity and resolution, providing a more comprehensive genetic evaluation for high-risk pregnancies [5].

Non-Invasive Prenatal Testing (NIPT) has revolutionized prenatal screening for major aneuploidies and certain microdeletion syndromes, demonstrating high accuracy and sensitivity. While not diagnostic, NIPT effectively stratifies risk, reducing the need for invasive procedures and offering a safe early screening option for chromosomal abnormalities [10]. Beyond prenatal care, chromosomal microarray analysis is a valuable first-tier diagnostic tool for children presenting with developmental delay and intellectual disability, identifying pathogenic copy number variants missed by conventional karyotyping. Its application significantly improves diagnostic yield, enabling more precise genetic counseling and management strategies [4].

A substantial proportion of children with congenital heart disease present with underlying chromosomal abnormalities, ranging from aneuploidies to microdeletions and duplications. Comprehensive genetic evaluation is vital for identifying these associations, influencing clinical management, and providing accurate genetic counseling to families [7]. Furthermore, chromosomal abnormalities and Copy Number Variations (CNVs) are recognized genetic contributors to Autism Spectrum Disorder (ASD), with a significant subset of individuals displaying identifiable genomic changes. Genetic screening is important for diagnosing specific etiologies in ASD, which can inform prognosis and therapeutic interventions [8].

Recurrent pregnancy loss is frequently associated with chromosomal abnormalities in one or both partners, often involving balanced translocations or inversions. Genetic screening and counseling are essential for affected couples to understand recurrence risks and explore reproductive options, including preimplantation genetic testing [3].

Chromosomal abnormalities, including numerical and structural rearrangements, are significant genetic factors contributing to male infertility. Karyotyping and molecular cytogenetic techniques are crucial for identifying these aberrations, guiding prognosis, and informing assisted reproductive technologies [6].

Chromosomal abnormalities are fundamental drivers of tumorigenesis and cancer progression, influencing genomic stability, gene expression, and cellular pathways. Understanding these aberrations provides insight into cancer mechanisms and presents opportunities for targeted therapeutic strategies that exploit cancer cell vulnerabilities [2]. Recurrent chromosomal abnormalities are critical prognostic markers in adult Acute Myeloid Leukemia (AML), dictating disease classification, treatment response, and long-term outcomes. Precise cytogenetic and molecular profiling is essential for risk stratification and tailoring individualized therapeutic approaches for AML patients [9].

Conclusion

Chromosomal abnormalities profoundly influence various aspects of human health, from early prenatal development through adulthood. Modern diagnostic tools, including chromosomal microarray analysis, Next-Generation Sequencing, and Non-Invasive Prenatal Testing, significantly improve the detection of submicroscopic abnormalities, copy number variants, and aneuploidies. These advancements are crucial for providing precise clinical management and genetic counseling in prenatal settings, often reducing the need for more invasive procedures. Beyond prenatal care, chromosomal abnormalities are key to understanding developmental disorders. Microarray analysis is a primary diagnostic for developmental delay and intellectual disability in children, while also revealing significant genetic contributors to congenital heart disease and Autism Spectrum Disorder. In reproductive health, such abnormalities are frequently linked to recurrent pregnancy loss and male infertility, emphasizing the need for comprehensive genetic screening and counseling for affected couples to explore reproductive options and guide prognosis. Additionally, chromosomal aberrations are recognized as fundamental drivers in cancer. Specifically, they serve as critical prognostic markers in adult Acute Myeloid Leukemia, guiding disease classification, treatment response, and the development of personalized therapeutic strategies. The consistent message here is that understanding and accurately identifying chromosomal abnormalities is paramount for effective diagnosis, risk stratification, and tailored interventions across diverse medical fields.

Acknowledgement

None

Conflict of Interest

None

References

Yuxin L, Min Z, Ling L. "Clinical utility of chromosomal microarray analysis in prenatal diagnosis: a retrospective study of 5 years.".Chinese Medical Journal 136 (2023):68-75.

Indexed at, Google Scholar, Crossref

Jianlong M, Xiangjun M, Xiaoyue G. "Chromosomal abnormalities in cancer: mechanisms, consequences, and therapeutic implications.".Cell Death & Disease 13 (2022):885.

Indexed at, Google Scholar, Crossref

Anshu S, Shivani S, Ashish K. "Chromosomal abnormalities in couples with recurrent pregnancy loss: a systematic review and meta-analysis.".Journal of Human Reproductive Sciences 14 (2021):106-118.

Indexed at, Google Scholar, Crossref

Sujata S, Priyanka R, Ritu S. "Utility of chromosomal microarray analysis in children with developmental delay and intellectual disability: a tertiary center experience.".International Journal of Contemporary Pediatrics 7 (2020):894-899.

Indexed at, Google Scholar, Crossref

Xiang-Rong L, Shu-Fang D, Yan-Mei Z. "Detection of chromosomal abnormalities by combining next-generation sequencing and single-nucleotide polymorphism array in prenatal diagnosis.".Frontiers in Genetics 12 (2021):691771.

Indexed at, Google Scholar, Crossref

V. K, P. E, V. G. "Chromosomal abnormalities and their role in male infertility: A review.".Journal of Human Reproductive Sciences 15 (2022):3-8.

Indexed at, Google Scholar, Crossref

Jianan S, Xiaoli Z, Xiaowei Z. "Clinical spectrum and chromosomal abnormalities in children with congenital heart disease.".Experimental and Therapeutic Medicine 20 (2020):3672-3678.

Indexed at, Google Scholar, Crossref

Sujitha KN, Varsha K, Sandhya M. "Prevalence of chromosomal abnormalities and copy number variations in children with autism spectrum disorder: A systematic review and meta-analysis.".Indian Journal of Human Genetics 27 (2021):102-110.

Indexed at, Google Scholar, Crossref

Ahmed E, Hisham M, Nehal E. "Prognostic impact of recurrent chromosomal abnormalities in adult acute myeloid leukemia: A single-center experience.".Annals of Hematology 99 (2020):51-60.

Indexed at, Google Scholar, Crossref

Yanan Z, Lu H, Jun H. "Non-invasive prenatal testing for aneuploidies and microdeletions: a five-year experience from a single center.".Archives of Gynecology and Obstetrics 305 (2022):13-20.

Indexed at, Google Scholar, Crossref