NEWSLETTER

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  • Birth defects

    10/10/2019
    Posted by:

    J.Phillips


    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.


  • Childbirth pharmacogenetics

    09/09/2019
    Posted by:

    Dr.M.Raszek


    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?


  • Pregnancy screening options and the role of NIPT

    31/03/2019
    Posted by:

    Dr.M.Raszek


    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.


  • The value of DNA sequencing at birth

    31/01/2019
    Posted by:

    Dr.M.Raszek


    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.


  • What can go wrong with your NIPT

    12/03/2018
    Posted by:

    Dr.M.Raszek


    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).


  • BabySeq, a catchy name, a catchy way to study the future

    30/09/2017
    Posted by:

    Dr.M.Raszek


    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.


  • Introduction to non-invasive prenatal testing

    26/06/2017
    Posted by:

    Dr.M.Raszek


    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.


  • Pregnancies just got new test to study fetus

    24/04/2017
    Posted by:

    Dr.M.Raszek


    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.