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Review Papers | Genetics | India | Volume 13 Issue 5, May 2024 | Rating: 5.4 / 10
Genetic Etiology of Stillbirths
Sunidhi Vaish, Dr. Sunil K Pollipalli, Gurumurthy DM
Abstract: Stillbirths remain a significant global public health challenge, with an estimated 2 million babies worldwide being stillborn in 2019 alone. Understanding the genetic factors is important for improving prevention and diagnosis. This review will summarize various genetic syndromes, mutations associated with stillbirths, and placental abnormalities and give an overview of its prevalence and some diagnostic techniques. Genetic reasons for stillbirths consist of many unknown factors which could be chromosomal abnormalities, alterations in mitochondrial and nuclear DNA. Early detection of these roots will reduce the chances of stillbirths. Research indicates that up to 25% of cases may have a genetic origin.6 - 13% of stillbirths are because of an abnormal karyotype. Some common chromosomal aberrations are trisomy 21, trisomy 18 and 13, and monosomy X. Standard karyotypic analysis and chromosomal microarray analysis are the techniques that are implemented to identify genetic abnormalities in stillborn babies. Genetic abnormality can occur by single gene mutations and cause disorders like sickle cell anemia cystic fibrosis, and long QT syndrome. Specific alterations in genes like Factor V Leiden, Prothrombin, and TRPM7 are explored in detail. Mitochondrial disorders are also examined as a significant contributor to stillbirths, with mutations in DNA (mtDNA) linked to conditions such as lactic acidosis, myoclonic epilepsy with ragged red fibers (MERRF), and Leber's hereditary optic neuropathy (LHON) and mitochondrial encephalomyopathy, and stroke - like episodes (MELAS). Mutations in mtDNA can result in mitochondrial disorder, which can affect various cellular processes and potentially cause mitochondrial diseases. Nuclear DNA (nDNA) mutations are implicated in stillbirths, including defects in genes involved in mitochondrial function, assembly, and maintenance. Coenzyme Q10 deficiency is highlighted as an example, emphasizing the importance of understanding the root (molecular) cause of mitochondrial disorders.
Keywords: Stillbirths, Alterations, Genes, Placenta, Mitochondrial DNA
Edition: Volume 13 Issue 5, May 2024
Pages: 617 - 622