preterm birth: Welcome once again to ABP Live’s weekly science column “Science for Everyone”. Last week, we explained Why is air pollution so severe in Delhi since the beginning of November, what is its connection with climate change and what measures need to be taken to deal with it. This week, we discuss how genetic factors and biomarkers may be linked to premature birth, and how such births can be prevented through genetic research.
Genetic factors may be linked to preterm birth, which refers to the birth of a baby before 37 weeks of pregnancy are completed. Many studies have been conducted to establish the biological mechanisms underlying preterm birth through identification of risk factors for preterm birth.
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Rare variants may cause disorder in premature babies
There is an association between maternal and fetal genetic diversity, rare genome variants, and important immune response sites. Some of the new variants may result in attention deficit, autism spectrum disorder, hyperactivity and infertility in premature babies, according to a December 2022 study published in The Journal of Obstetrics and Gynecology Research.
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Environmental factors can influence epigenetic changes
Environmental factors can cause failure in the fetal epigenome reprogramming process. According to the National Human Genome Research Institute of the US National Institutes of Health (NIH), the epigenome, which is derived from the Greek word ‘epi’ meaning ‘above the genome’, consists of chemical compounds that mark the genome in such a way that Or modify it tells it what to do, when to do it, and where to do it, meaning the epigenome can turn genes on or off when needed.
Environmental factors may also contribute to the onset of spontaneous premature pregnancy termination, which refers to the loss of a pregnancy before 20 weeks of gestation.
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Therefore, by failing fetal epigenome reprogramming, environmental factors also influence fetal and neonatal growth and neurodevelopment.
Premature birth is moderately hereditary, according to a May 2020 study published in Annals of Human Genetics. The study said there is some evidence of enrichment of risk alleles for processes related to immunity and inflammation in mothers and for processes related to brain development in premature infants.
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Genes involved in immunological and endocrine pathways may be linked to premature birth.
According to an article published in July 2023 in the journal Reproductive Sciences, genetic studies have identified genes involved in inflammatory, tissue remodeling, metabolic, immunological, endocrine and vascular pathways that may be associated with preterm birth.
However, the data provided by most studies has been inconclusive.
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Genetic variants found linked to premature birth in Indian women
A study published in The Lancet Regional Health Southeast Asia in April 2023 found that genetic variations are linked to spontaneous preterm birth in women in India. This is the first genomic study on prematurity to be published from India or other South-Asian countries.
The study tried to identify single nucleotide polymorphisms that may be associated with preterm birth. According to the US National Institutes of Health (NIH), single nucleotide polymorphism is the most common type of genetic variation between people, with each fragment representing a difference in a single DNA building block, or nucleotide. A single nucleotide polymorphism can replace the nucleotide cytosine with the nucleotide thymine in a certain segment of DNA.
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The study identified 512 maternal single nucleotide polymorphisms associated with spontaneous preterm birth in 6,211 women from India.
They identified that single nucleotide polymorphisms are known to alter the expression of genes associated with key pathways in spontaneous preterm birth, which are inflammation, cervical ripening, innate immunity and apoptosis or death of cells.
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The role of family history and ethnicity in preterm birth
Family history of premature birth and ethnicity also play a role in increasing the risk of premature birth. For example, compared with Caucasians, black women are twice as likely to give birth to premature babies.
“Several lines of evidence support a genetic predisposition to spontaneous preterm labor and preterm birth. Personal or family history of premature birth is a major cause of premature birth. Premature birth runs in families. Black women are twice as likely to give birth prematurely as Caucasian women. “No single gene for preterm birth has been identified so far, but there is much research exploring preterm birth genetics, with a particular focus on identifying associated genetic polymorphisms.” Dr. Manju Khemani, Senior Director (Obstetrics & Gynecology) and Unit Head, Obstetrics & Gynecology, Max Smart Super Specialty Hospital, Saket, told ABP Live.
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No genetic test to 100 percent predict premature birth
Because premature birth can be caused by a number of factors, there is no genetic test available to accurately predict the likelihood of a premature baby being born. Chromosomal disorders or genetic diseases in the mother, immune system factors, and endocrine factors can cause premature birth.
“Many studies have highlighted several reasons behind premature delivery. These causes include family history, genetic conditions (chromosomal disorders/genetic diseases in the child or mother), uterine conditions in the mother, immune system factors, fetal or maternal infections, endocrine factors, and lifestyle. There are several new studies exploring genes and their influence in premature delivery. However, given the multifactorial nature of the condition, no genetic test has been developed to predict fate 100 percent. Dr Priya Kadam, director of reproductive genomics at genomics-driven research and diagnostics firm MedGenome, told ABP Live.
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Biomarkers that can determine the extent of risk of preterm birth
Premature birth can occur as a result of trisomy of chromosomes 21 and 18 in the fetus (a chromosomal condition characterized by an extra chromosome), or connective tissue and clotting disorders in the mother. Some biochemical tests can measure markers associated with premature birth, such as trisomy, or connective tissue disorders, to determine the extent of risk of preterm birth. Premature birth can also be predicted with the help of markers such as amniotic fluid biomarkers and maternal and fetal proteins.
“Known genetic factors include trisomy of chromosome 21 or 18 in the fetus, or connective tissue disorders and clotting disorders in the mother. Additionally, there are also some biochemical tests that will measure related markers to give a risk score for such pregnancy outcomes. There are other markers such as maternal and fetal proteins, maternal hormones and amniotic fluid biomarkers that have been strongly associated with the prediction of preterm birth. Dr. Kadam said.
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How genetic research can help prevent premature birth
If the transcription factors, or proteins involved in the process of converting DNA to RNA, associated with premature birth are identified through minimally invasive techniques, premature birth can be prevented.
It is important to study the human genome, epigenome, and transcriptome (the entire range of messenger RNA molecules expressed by an organism) to identify molecular mechanisms associated with preterm delivery.
By understanding the implication of genetic changes in preterm birth, targeted treatments can be developed to prevent preterm birth.
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