{"id":11426,"date":"2024-03-21T07:50:57","date_gmt":"2024-03-21T07:50:57","guid":{"rendered":"https:\/\/www.coastersonthecoast.co.uk\/?p=11426"},"modified":"2025-06-12T19:31:06","modified_gmt":"2025-06-12T19:31:06","slug":"our-daughters-trisomy-21-diagnosis","status":"publish","type":"post","link":"https:\/\/www.coastersonthecoast.co.uk\/?p=11426","title":{"rendered":"Our Daughters Trisomy 21 Diagnosis"},"content":{"rendered":"

If you have read my pregnancy blogs you\u2019ll know the whole pregnancy we were classed as \u201chigh risk\u201d for Trisomy 21. But I\u2019ll dive back into that in this blog too. So, here is our story & journey so far. <\/span><\/p>\n

12 Week Scan & Genetic Screening: <\/span><\/h3>\n

Back at 12 weeks I went for my NHS dating scan and opted to have the Genetic Screening. I\u2019ll admit I had a sense the screening was going to indicate something so I did doubt having it done from the minute I got the forms. However, I\u2019m glad I did now looking back in hindsight. So, at my scan, the scanographer informed me my baby’s NT (fluid back of the neck) was raised sitting at 9.10mm where it should be 3.4mm or less. She gave an indication as to what this could mean – Down Syndrome &\/or a heart condition. Following the scan I then had my blood taken. The next day I received a phone call to notify me I had a 1 in 3 chance of having my baby with Down Syndrome. I cried a lot purely out of fear of the unknown. I was very under-educated on Trisomy 21 at this point and never knew what it truly meant in regard to health and quality of life. Following those results we were guided to Fetal Medicine which you can read about HERE<\/strong>.<\/span><\/p>\n

20 Week Echocardiogram Scan:<\/span><\/h3>\n

By this stage, I spent a lot of time enlightening myself, connecting with other families and joining many groups to make myself fully ready for the ride ahead. Heading off to Birmingham Women\u2019s Hospital for our heart scan was a very frightening time. Once the scan began I kind of knew it wasn\u2019t going to be good news. Which it wasn\u2019t. We were taken into a room with 4\/5 other doctors where they explained to us our daughter potentially has a medium-sized VSD which would need open heart surgery from 3-6 months of age. Alongside this, she has a Cystic Hygroma. We had a delightful team of professionals who were exceptionally reassuring. In the room was a lady from the Children\u2019s Hospital who described the procedure and gave us some tips for when the time would come. Coming out of this appointment it was hard to not feel sad but also at ease knowing she\u2019s still doing okay regardless of this probable diagnosis we just had. For us, we were comforted that open heart surgery is their bread & butter the percentage that survived was high and we were very grateful her heart developed in the right place it was meant to and there was nothing along the lines of heart failure. <\/span><\/p>\n

28 Week Echocardiogram Scan:<\/span><\/h3>\n

Heading back to Birmingham for our repeat heart scan and follow-up. This time there was a very distinct feeling in the room. Whilst laying on the bed the head heart doctor tells us she actually can\u2019t see anything wrong with Liara\u2019s heart and the fluid (cystic hygroma) has enormously reduced and is slightly there anymore. This was the greatest sigh of relief for us ever. We couldn\u2019t believe our luck if I\u2019m honest. At this scan, it was pinpointed that she was measuring quite tiny to what she should have been & the blood flow through the umbilical cord was raised which then led us to further scans and CTGs. So, it was the best news regarding her heart it was just another two complications which remained with us all the way through to the end. Both of which came with an increased risk of stillbirth. <\/span><\/p>\n

Birth: <\/span><\/h3>\n

Due to Liara\u2019s size being very small for her gestation and the fact my PI (blood flow through the umbilical cord) was so raised we had to give birth to Liara at 37 weeks via elective c-section. Once she arrived the doctors immediately took her into the recovery room to examine her. It was always up in the air as to whether she would need special care which thankfully she didn\u2019t. Admittedly, the midwife was quite uneasy with her due to her being so diddy, showing features of Down syndrome but she was completely okay and never required any special care thankfully. We were released from the hospital within 3 days and we were kept in to do as many tests as we could including a heart scan etc. <\/span><\/p>\n

Official Diagnosis:<\/span><\/h3>\n

After birth, Liara had a blood test to check for genetic conditions and we already knew she had Down Syndrome in our hearts. We were never fearful of that either. So, after 4 weeks we received the phone call to confirm the diagnosis and I cried a ton purely because it put my dreaded pregnancy to bed. We had our answers we could begin the journey to ensure she had all the support required in place to facilitate her future to be as bright as possible! I do believe you could call for a further test that analyses which Down Syndrome she has. There are 3 types which not many know but we ain\u2019t had the opportunity to request this yet. <\/span><\/p>\n

Current Journey: <\/span><\/h3>\n

At the moment Liara is just attending all the therapists and specialists to ensure she\u2019s on the right path! We have a speech & language therapist, dietician, physiotherapist, portage & audiologist. It is an overwhelming number of appointments but we will do whatever we can to ensure Liara has the utter best. We are very lucky to have all these areas covered at such a young age and so quickly too. But Liara\u2019s health thankfully is amazing. She naturally has thinner airways which makes her work a tad harder at eating & exercising and she also has congenital hypothyroidism. Her heart is totally good which is my greatest sigh of relief. We have been battling milk intolerance and weight difficulties which have now been resolved! <\/span><\/p>\n

So, there is our journey to Liara-Rose\u2019s diagnosis! Please ask any questions and feel free to talk to me about anything on this subject as I\u2019m exceptionally open and want to raise as much awareness as feasible surrounding Trisomy 21!<\/span><\/p>\n

Thank you for reading & I\u2019m eager to share this journey with you all!\"\" <\/span><\/strong><\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

If you have read my pregnancy blogs you\u2019ll know the whole pregnancy we were classed as \u201chigh risk\u201d for Trisomy 21. But I\u2019ll dive back into that in this blog too. So, here is our story & journey so far. 12 Week Scan & Genetic Screening: Back at 12 weeks I went for my NHS dating scan and opted to have the Genetic Screening. I\u2019ll admit I had a sense the screening was going to indicate something so I did doubt having it done from the minute I got the forms. However, I\u2019m glad I did now looking back in hindsight. So, at my scan, the scanographer informed me my baby’s NT (fluid back of the neck) was raised sitting at 9.10mm where it should be 3.4mm or less. She gave an indication as to what this could mean – Down Syndrome &\/or a heart condition. Following the scan I then had my blood taken. The next day I received a phone call to notify me I had a 1 in 3 chance of having my baby with Down Syndrome. I cried a lot purely out of fear of the unknown. I was very under-educated on Trisomy 21 at this point and never knew what it truly meant in regard to health and quality of life. Following those results we were guided to Fetal Medicine which you can read about HERE. 20 Week Echocardiogram Scan: By this stage, I spent a lot of time enlightening myself, connecting with other families and joining many groups to make myself fully ready for the ride ahead. Heading off to Birmingham Women\u2019s Hospital for our heart scan was a very frightening time. Once the scan began I kind of knew it wasn\u2019t going to be good news. Which it wasn\u2019t. We were taken into a room with 4\/5 other doctors where they explained to us our daughter potentially has a medium-sized VSD which would need open heart surgery from 3-6 months of age. Alongside this, she has a Cystic Hygroma. We had a delightful team of professionals who were exceptionally reassuring. In the room was a lady from the Children\u2019s Hospital who described the procedure and gave us some tips for when the time would come. Coming out of this appointment it was hard to not feel sad but also at ease knowing she\u2019s still doing okay regardless of this probable diagnosis we just had. For us, we were comforted that open heart surgery is their bread & butter the percentage that survived was high and we were very grateful her heart developed in the right place it was meant to and there was nothing along the lines of heart failure. 28 Week Echocardiogram Scan: Heading back to Birmingham for our repeat heart scan and follow-up. This time there was a very distinct feeling in the room. Whilst laying on the bed the head heart doctor tells us she actually can\u2019t see anything wrong with Liara\u2019s heart and the fluid (cystic hygroma) has enormously reduced and is slightly there anymore. This was the greatest sigh of relief for us ever. We couldn\u2019t believe our luck if I\u2019m honest. At this scan, it was pinpointed that she was measuring quite tiny to what she should have been & the blood flow through the umbilical cord was raised which then led us to further scans and CTGs. So, it was the best news regarding her heart it was just another two complications which remained with us all the way through to the end. Both of which came with an increased risk of stillbirth. Birth: Due to Liara\u2019s size being very small for her gestation and the fact my PI (blood flow through the umbilical cord) was so raised we had to give birth to Liara at 37 weeks via elective c-section. Once she arrived the doctors immediately took her into the recovery room to examine her. It was always up in the air as to whether she would need special care which thankfully she didn\u2019t. Admittedly, the midwife was quite uneasy with her due to her being so diddy, showing features of Down syndrome but she was completely okay and never required any special care thankfully. We were released from the hospital within 3 days and we were kept in to do as many tests as we could including a heart scan etc. Official Diagnosis: After birth, Liara had a blood test to check for genetic conditions and we already knew she had Down Syndrome in our hearts. We were never fearful of that either. So, after 4 weeks we received the phone call to confirm the diagnosis and I cried a ton purely because it put my dreaded pregnancy to bed. We had our answers we could begin the journey to ensure she had all the support required in place to facilitate her future to be as bright as possible! I do believe you could call for a further test that analyses which Down Syndrome she has. There are 3 types which not many know but we ain\u2019t had the opportunity to request this yet. Current Journey: At the moment Liara is just attending all the therapists and specialists to ensure she\u2019s on the right path! We have a speech & language therapist, dietician, physiotherapist, portage & audiologist. It is an overwhelming number of appointments but we will do whatever we can to ensure Liara has the utter best. We are very lucky to have all these areas covered at such a young age and so quickly too. But Liara\u2019s health thankfully is amazing. She naturally has thinner airways which makes her work a tad harder at eating & exercising and she also has congenital hypothyroidism. Her heart is totally good which is my greatest sigh of relief. We have been battling milk intolerance and weight difficulties which have now been resolved! So, there is our journey to Liara-Rose\u2019s diagnosis! Please ask any questions and feel free to talk to me about anything on this subject as I\u2019m exceptionally open and want to raise as much awareness as feasible surrounding Trisomy 21! Thank you for reading & I\u2019m eager to share this journey with you all!<\/p>\n","protected":false},"author":1,"featured_media":11458,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[4970,5056],"tags":[],"class_list":["post-11426","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-our-family-diaries","category-parenthood"],"jetpack_featured_media_url":"https:\/\/i0.wp.com\/www.coastersonthecoast.co.uk\/wp-content\/uploads\/2024\/03\/4765B163-8F39-4234-80B9-A8591DB1C059.png?fit=1080%2C1080&ssl=1","jetpack_sharing_enabled":true,"jetpack_likes_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/pb4qDv-2Yi","jetpack-related-posts":[],"_links":{"self":[{"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=\/wp\/v2\/posts\/11426","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=11426"}],"version-history":[{"count":1,"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=\/wp\/v2\/posts\/11426\/revisions"}],"predecessor-version":[{"id":11427,"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=\/wp\/v2\/posts\/11426\/revisions\/11427"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=\/wp\/v2\/media\/11458"}],"wp:attachment":[{"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=11426"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=11426"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.coastersonthecoast.co.uk\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=11426"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}