Most parents will do anything to help their children lead long and healthy lives. This includes undergoing prenatal tests to better understand their children’s genetic makeups. Prenatal tests such as whole genome sequencing of the fetus can identify inherited disorders in unborn infants. Whole genome sequencing provides the most comprehensive analysis of an infant. Making it an attractive testing option for many parents. Find out if it’s right for you.
What Is It?
DNA sequencing or determining the order of DNA nucleotides in someone’s genetic code, is a way to test for genetic disorders. Two specific methods of DNA sequencing exist: whole exome and whole genome. Whole exome sequencing looks at just protein coding sequences, while whole genome sequencing looks at the entire genome. It offers more uniform coverage of the genome, as well as better assessments of structural variations. It is only possible to detect genetic disorders.
Thanks to next-generation sequencing, professionals in the healthcare industry can now rapidly sequence large amounts of DNA. In the past, sequencing could take years and be very expensive. Now, patients can receive test results in days to weeks at reduced costs. As an expecting mother, you could receive the results of your genome sequencing within a few days or a week. Your DNA analysis could help you determine whether your child has a genetic disorder in the first or second trimester of pregnancy.
Noninvasive Prenatal Tests
Thanks to modern technologies, it is now possible to conduct genetic diagnostics without invasive procedures, before the baby is born. Noninvasive prenatal testing, or NIPT testing, can provide accurate information about the genetic makeup of a developing baby without the risks of invasive prenatal procedures. If fear of harming your child has stopped you from getting screened during pregnancy, consider NIPT options. Several noninvasive tests exist for expectant mothers in their first and second trimesters.
NIPT tests could not only deliver important information about chromosomal abnormalities and conditions such as Down syndrome but could also reduce the odds of needing invasive prenatal diagnostic procedures. Data from the National Institutes of Health suggests that fetal DNA sequencing improves the accuracy of noninvasive screening tests, leading to the diagnosis of maternal conditions that may otherwise have gone undetected. This in turn could eliminate the need for more invasive diagnostic tests later in the pregnancy.
Benefits of Genome Sequencing
Whether or not you receive prenatal testing, your child may need additional newborn sequencing to screen for health conditions he or she may develop in the future. Infant genome sequencing can help provide early diagnosis and intervention. Starting treatment as soon as possible could positively impact the health, well-being, and success of your child. If you have risk factors that could lead to genetic disorders in your child, such as maternal age at or above 35 years old, investing in whole genome sequencing could give you peace of mind.
Should you discover through genome sequencing that your child does have an increased risk of developing a condition later in life, you can immediately take steps to help prevent the issue. It could also detect genetic changes that may instantly affect the infant’s life. Knowing what these changes are can help your family prepare for how to best take care of your special needs child.
SOURCES:
http://stm.sciencemag.org/content/4/137/137ra76
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3379884/
https://www.sciencedirect.com/topics/neuroscience/whole-genome-sequencing
https://ghr.nlm.nih.gov/primer/testing/sequencing
https://www.illumina.com/techniques/sequencing/dna-sequencing/whole-genome-sequencing.html
https://allseq.com/kb/wgsvswes/
https://ghr.nlm.nih.gov/primer/newbornscreening/newborngenomicsequencing
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