Discover how to navigate pregnancy while managing an autoimmune disease. This article offers guidance and hope for those navigating this complex journey.

Iodine is necessary for proper brain development. However, fluoride exposure could impede proper iodine uptake and potentially affect the brain. Could fluoride exposure be responsible for the rise in autism we have been witnessing worldwide in the last few decades?

Recently Merogenomics has published a video on a scientific investigation into whether vaccines might be influencing the menstrual cycle and/or the duration of menses. What followed was hundreds of comments on what so many women have experienced, and who described their extreme experiences in detail. We decided to present it in a graphical format, at least until we see a proper scientific analysis of these extreme outcomes being reported!

With all the attention of the COVID-19 causing virus (SARS-CoV-2), we have been bumping into lots of literature related to viruses in general and one virus in particular grabbed our attention as it has been reported to be the leading cause of birth defects in newborns worldwide. The virus of interest is the human cytomegalovirus (CMV) which belongs in the herpes viruses family.

In this post we will discuss what might seem like an obscure topic but is a very real-life issue: being composed of more than one genome. Or in other words, situations where an individual carries two different types of genetic information in the cells of their body. This is especially significant for those who are interested in prenatal DNA testing.

Birth defects continue to be a major challenge in Canadian health care, affecting 3-5% of newborns, and the impact of these birth defects on the levels of infant mortality and childhood morbidity are profound. Although it is unlikely that we will ever be able to prevent birth defects entirely, research tells us that there are still many ways in which we can reduce the risk of our children having a birth defect.

Birth defects are disabilities and disorders that are present in an infant from the time of their birth. They affect approximately 1 in 25 newborns each year. 1 in 5 newborn deaths result from birth defects primarily due to defects of the heart, lungs, brain, and contribution of genetics. Since birth defects have such a profound impact on both the lives of families and society as a whole, it makes sense that a lot of effort is focused on treatment and prevention.

Part of modern medicine’s benefit in the childbirth process is the array of medications available to a mother during labour (depending on her requirements). A client of Merogenomics who has undergone full genome sequencing, later became pregnant and wondered if her collected DNA data could be used in relation to any medications that might be provided to her during the childbirth process. In other words, is there any evidence that person’s DNA could be used to specifically personalize prescriptions and the dosing of drugs used during childbirth?

The primary concern and screening available for women is that for chromosomal abnormalities. Until the recent introduction of non-invasive prenatal testing (NIPT), the screening program consisted of testing for specific blood markers (whether protein molecules or smaller chemicals) and an ultrasound, in the first and second trimesters of pregnancy. According to obstetrics guidelines, pregnant woman is supposed to be clearly told about her screening and testing options, and that includes traditional approaches, NIPT and even diagnostic invasive testing. Diagnostic invasive testing carry small but real risk of pregnancy loss. This is the primary reason why NIPT has gained so much in popularity because women don’t want to undergo diagnostic testing if they don’t have to, and place their pregnancy at risk. But because traditional screening is nowhere near as accurate as NIPT, with traditional screening, lots more women end up undergoing confirmatory diagnostic testing that they would not have to if they took the NIPT test in the first place.

Can sequencing at birth identify genetic findings that are potentially life-saving? Finally, the first results from the BabySeq project which investigated the impact of full genome sequencing in babies soon after birth suggest that DNA testing can uncover the risk of childhood-onset disease in much higher rates than previously anticipated, at nearly 10% of infants (9.4%). We are talking about conditions that were otherwise completely unanticipated to be present in these children based on their appearance, clinical examination, or family history. Furthermore, adult-onset conditions, which are typically not recommended to be investigated in children, were discovered at a rate of 3.5% in otherwise presumed healthy infants.

Nothing is ever as simple as it may first seem, and NIPT is no exception. Important work has come out highlighting some of the reasons that might lead to false results in an NIPT test, and they are fascinating. In essence, it is the fact that the majority of NIPT tests do not test for altered numbers of all chromosomes, which can mess up the results. The vast majority of NIPT tests look only for problems encountered with chromosomes 21 (resulting in Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome), as well as the sex chromosomes. That's for a good reason, as these are the most common unbalanced chromosome counts (termed “aneuploidies”), and adding extra chromosomes into the test reduces the overall power of the test detection as compared to testing for only chromosome 21 levels (the most commonly encountered problem).

There are massive studies underway in the US right now that are checking into the idea of what societal health benefits can be derived by screening babies upon birth with the sequencing of their genomes. This is a very laborious undertaking, combining the research efforts of many clinical institutions, as well as many scientists and physicians, and is scrutinized throughout the process from every angle possible. It is desirable to find out how good such sequencing would be for babies to be healthier, how accurate the process could be, how dangerous, how costly, and what impact can be expected. It will require many years of examination to bring all of the necessary data required to guide future health policies and standards.

Our cells continuously die or are destroyed, and as they are broken down, their genetic material can be released into the blood stream. Once in the blood, the circulating DNA will be cleared up in matter of hours, but it is a process that occurs on a continuous basis. This allows for a constant supply of DNA to be in circulation, whether it is that of the mother, or of the developing baby.

What has changed, quite recently, is how pregnant women have started applying genomic technologies to assess the health risks of their babies, even prior to being born. Colloquially known as NIPT test, which stands for a non-invasive prenatal test, it is a term that is rapidly becoming familiar to pregnant women.