{"id":98360,"date":"2025-10-02T04:29:26","date_gmt":"2025-10-02T04:29:26","guid":{"rendered":"https:\/\/www.europesays.com\/ie\/98360\/"},"modified":"2025-10-02T04:29:26","modified_gmt":"2025-10-02T04:29:26","slug":"how-genetic-testing-is-empowering-the-path-to-parenthood","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/ie\/98360\/","title":{"rendered":"How genetic testing is empowering the path to parenthood"},"content":{"rendered":"<p>\u201cWe\u2019re so, so happy and so pleased with her and quite excited to get going for round two soon.\u201d<\/p>\n<p>As new mum Tayla Smith speaks to Women\u2019s Agenda, you can hear her baby Helena cooing in the background.\u00a0<\/p>\n<p>A heartwarming reminder that the journey she took was well worth it.\u00a0<\/p>\n<p>With preparations underway for Helena\u2019s first birthday, Tayla is filled with excitement for the journey ahead.\u00a0<\/p>\n<p><img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"683\" src=\"https:\/\/www.europesays.com\/ie\/wp-content\/uploads\/2025\/10\/10-1-3-1024x683.jpg\" alt=\"\" class=\"wp-image-89705\"  \/>Supplied: Tayla Smith says PGT allowed her to feel empowered in the path to parenthood<\/p>\n<p>But life with a baby and her partner didn\u2019t seem so joyful at one point.\u00a0<\/p>\n<p>Tayla lives with Osteogenesis Imperfecta (Type 4), an inherited bone disorder that\u2019s commonly known as brittle bone disease.<\/p>\n<p>\u201cIt\u2019s a dominant condition with a dominant gene,\u201d says Tayla.<\/p>\n<p>\u201cSo if I was to have my own children naturally, it\u2019s a 50-50 chance of me passing on the disease to my child.\u00a0<\/p>\n<p>\u201cMy type of osteogenesis, it\u2019s more on the moderate side, so I don\u2019t personally live a drastically unusual life \u2013\u00a0 I can drive a car, I cook and clean and all that fun stuff.<\/p>\n<p>\u201cThere\u2019s a few little things that I have to do differently like I walk with orthotics on my feet and I\u2019m very short so to reach up high I\u2019ve got little gadgets to do all that.\u00a0<\/p>\n<p>\u201cI don\u2019t have a lot of limitations, but that doesn\u2019t mean that my child wouldn\u2019t. So if my child inherited what I have, they could quite easily have one of the more severe types. And with this particular condition, it can be fatal.\u201d<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"768\" height=\"1024\" src=\"data:image\/svg+xml,%3Csvg%20xmlns=\" http:=\"\" alt=\"\" class=\"wp-image-89703\" style=\"width:545px;height:auto\" data-lazy- data-lazy- data-lazy-src=\"https:\/\/www.europesays.com\/ie\/wp-content\/uploads\/2025\/10\/image-768x1024.png\"\/>Supplied: Tayla and her husband were worried about passing on their conditions.<\/p>\n<p>In addition to this, Tayla\u2019s husband lives with cystic fibrosis, an <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/cystic-fibrosis\/symptoms-causes\/syc-20353700\" rel=\"nofollow noopener\" target=\"_blank\">inherited condition<\/a> that damages the lungs, digestive system and other organs.<\/p>\n<p>\u201cThat\u2019s why there was no question that we wanted to go down the PGT route when we discussed starting a family,\u201d she says.\u00a0<\/p>\n<p>Preimplantation Genetic Testing (PGT) is an advanced technique used to test embryos created through IVF for <a href=\"https:\/\/www.genea.com.au\/pages\/preimplantation-genetic-testing-pgt-m-pgt-a-MCURWXKU5I55GXZBJMS7SZH6R7TY\" rel=\"nofollow noopener\" target=\"_blank\">gene disorders<\/a> or chromosomal changes.<\/p>\n<p>Genea can design a test specific to the patient\u2019s conditions and this then allows the fertility team to select embryos that are unaffected.\u00a0<\/p>\n<p>Tayla and her husband were referred by their GP to <a href=\"https:\/\/www.genea.com.au\/\" rel=\"nofollow noopener\" target=\"_blank\">Genea<\/a>.<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"767\" height=\"1024\" src=\"data:image\/svg+xml,%3Csvg%20xmlns=\" http:=\"\" alt=\"\" class=\"wp-image-89704\" style=\"width:592px;height:auto\" data-lazy- data-lazy- data-lazy-src=\"https:\/\/www.europesays.com\/ie\/wp-content\/uploads\/2025\/10\/image-1-767x1024.png\"\/>Supplied: Tayla is looking forward to baby number two thanks to genetic testing.<\/p>\n<p>After meeting with genetic counsellors and the geneticist they were referred on to a Genea Fertility Specialist to design a personalised treatment plan. Tayla and her husband\u2019s sperm and eggs were then collected to create three embryos.\u00a0<\/p>\n<p>Of the three, one was found to be genetically viable.\u00a0<\/p>\n<p>\u201cThat turned into our daughter Helena: she was our lucky special one.\u201d<\/p>\n<p>How genetic testing can empower the path to parenthood<\/p>\n<p>Genea Fertility Specialist Dr Rose McDonnell says genetic testing is helping to open doors for hopeful parents.\u00a0<\/p>\n<p>\u201cNon-invasive prenatal testing during pregnancy is very much commonplace and a lot more affordable now,\u201d she says.<\/p>\n<p>Other reproductive carrier screening options prior to pregnancy are also more accessible.\u00a0<\/p>\n<p>\u201cIt\u2019s fantastic that the three-panel reproductive carrier screening is now Medicare-rebated,\u201d says Dr McDonnell.\u00a0<\/p>\n<p>\u201cThe test looks for the three most common inherited conditions \u2013 Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome \u2013 and can identify if someone is a carrier of a condition that could affect their future child. People often really value having that knowledge, and we\u2019re fortunate to have excellent genetic counsellors who can guide them through options, including preimplantation genetic testing during IVF, if needed.\u201d<\/p>\n<p>Dr McDonnell says genetic testing can also help determine what\u2019s behind miscarriages.\u00a0<\/p>\n<p>\u201cWe know that testing embryos can reduce miscarriage and shorten the time to pregnancy,\u201d she says.\u00a0<\/p>\n<p>\u201cFor those with a history of recurrent miscarriage, checking embryos for chromosomal issues can provide important answers and help in understanding why miscarriages have happened, especially after such a difficult journey.\u201d<\/p>\n<p>Dr McDonnell says trusted fertility specialists such as those at Genea can use various tests to help patients get to the root of issues with having a baby.<\/p>\n<p>\u201cIn about half of couples who struggle to conceive, we don\u2019t find an obvious reason,\u201d she says.\u00a0<\/p>\n<p>\u201cOften the woman is ovulating, the sperm is normal, and all the standard tests come back fine. In these cases, IVF can sometimes be an option, and it helps to demystify what that involves. Lifestyle and age also play a big role, as eggs and sperm become less healthy over time, increasing the risk of miscarriage and delaying pregnancy.<\/p>\n<p>\u201cThe main benefit of testing embryos for chromosomal abnormalities is that it can shorten the time to achieving a successful pregnancy or live birth. For women over 35, up to half of embryos may have the wrong number of chromosomes. This usually results in failed implantation or early miscarriage, though in some cases it can progress to conditions such as Trisomy 21, better known as Down Syndrome.\u201d<\/p>\n<p>Preimplantation Genetic Testing can be useful for patients who wish to test for genetic conditions that can increase with age to increase the chance of placing an embryo in the uterus that has no abnormality detected. This can be reassuring for patients at that stage in their fertility journey knowing that their chance of pregnancy is improved and their risk of miscarriage is lower. If a pregnancy occurs non-invasive prenatal testing at 10 weeks is still advised.<\/p>\n<p>Dr McDonnell says decisions around genetic testing will vary from person to person.<\/p>\n<p>\u201cEverybody comes with their own unique ethical, social and moral opinions,\u201d she says.<\/p>\n<p>\u201cSome people have the opinion that if we fell pregnant up until now, then we wouldn\u2019t have had the opportunity to screen an embryo and it is what it is. Others want to test for every possible risk. These perspectives are often shaped by a couple\u2019s life experiences or family health history.\u201d<\/p>\n<p>How far genetic testing has come and where it\u2019s going<\/p>\n<p>Dr McDonnell says advancements over the past ten years have led to a better understanding of genetic anomalies and how to prevent them.\u00a0<\/p>\n<p>\u201cAt Genea we can test the karyotype of each patient and we offer genetic screening of the parents-to-be\u201d says Dr McDonnell.<\/p>\n<p>\u201cOccasionally we detect a translocation in one of the parents. This means a piece of one chromosome has attached to another. While it usually doesn\u2019t cause problems for the parent, however when combined with the other parent\u2019s DNA the embryo can become unbalanced \u2013 for example, having part of chromosome 12 attached to chromosome 3. In these cases, couples may experience recurrent miscarriage or difficulty conceiving at all.\u201d<\/p>\n<p>She says using artificial intelligence in the embryo selection process is another exciting area.<\/p>\n<p>\u201cHaving a look at the metabolic activity of the embryos to determine whether or not they\u2019re behaving like a normal embryo is another area of development at the moment,\u201d she says.<\/p>\n<p>\u201cAnd a little bit more controversial would be looking at polygenic embryo screening \u2013 this is where you\u2019re trying to assess the risk of complex conditions influenced by lots of genes like cardiac issues or heart disease and diabetes for example\u201d.<\/p>\n<p>\u201cWe all carry genetic trademarks from our families, so the question then arises as to whether we would deselect an embryo on the basis of its chance of developing diabetes for example.\u201d\u00a0<\/p>\n<p>There are obvious ethical and societal implications for deselecting an embryo on the basis of its chance of developing a condition in this sense so this is an area of research interest and not in mainstream use.<\/p>\n<p>\u201cWhile the options can feel overwhelming, your fertility specialist will guide you through what\u2019s recommended for your situation, and whether certain tests could help improve your chance of having a healthy baby like Helena.\u00a0<\/p>\n<p>\u201cThere\u2019s no single \u2018right\u2019 path \u2013 what matters is having the time, information, and support to make choices you feel comfortable with along your journey to parenthood.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"\u201cWe\u2019re so, so happy and so pleased with her and quite excited to get going for round two&hellip;\n","protected":false},"author":2,"featured_media":98361,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[272],"tags":[18,458,19,17,133],"class_list":{"0":"post-98360","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-eire","9":"tag-genetics","10":"tag-ie","11":"tag-ireland","12":"tag-science"},"share_on_mastodon":{"url":"","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/98360","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/comments?post=98360"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/98360\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media\/98361"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media?parent=98360"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/categories?post=98360"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/tags?post=98360"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}