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freaking out about down syndrome.

I am currently 24 weeks pregnant and just had my first appointment with the doctor that will be delivering my son and he has suggested that I get another scan after reading the results of my last scan. Baby may have an echo and has a duplicated left ventricle (of his heart) and he has told me that one defect in the heart isn't a major concern but two defects in the heart is heavily linked to down syndrome. At all our other previous scans they have told me that he is perfect measurement wise and had a developed nasal bone and that my risk was very very low because I am young (21) and healthy, but now I can not stop thinking about it and I have read every google result ever and I can not stop crying and stressing that he's not okay/not healthy.


  • hello, I am very sorry to hear about this and how much stress is it causing for you.. I am a geneticist and I have brother with DS so I know about these issues and I came across situations when pregnancies were all good and it ended up being child with DS.. I don’t want to stress you out, it is just what I know. I am also young, 23, and I am scared I am expecting DS child as well, although it is not hereditary in our family.. the problem with the regular screening is that it is based on your age, thus when you are young you have to have very bad results to end up with high risk and on the other hand when you are older you need to have perfect results to end up not being high risk.. thus I am opting for private NIPT or amniocentesis (currently at stage of doing NIPT although that is also only screening not diagnosis like amnio -but I have problem with needles).. with regards to heart defects and Down Syndrome, there is one that is highly specific for DS - ASD and it is about hole in the heart for many of DS kids, and you are not being diagnosed with that.. I know that multiple heart defects might be linked to DS, however, it would be just such a small chance that you young, with healthy pregnancy would have kid with DS that has 2 heart defects that are not that common in DS generally... I have my fingers crossed for you and hopefully you will get some positive results at your next scan... 

  • Thank you so much, that has eased my worrying. His nasal bone is developed and his limbs are a good length in comparison to the rest of his body and his heart rate is perfect but the doctor telling me I need another scan just freaked me out and I haven't been able to breathe for the past 24 hours. 

  • I understand, I am in constant worry prior to TTC and now that I am pregnant I have some days when I am very stressed and others I am bit fine.. but as I am in genetic environment I always come across something that gets me thinking omg, so many things could go wrong with pregnancy/kids such stressful time... when are you having your next scan? just try to relax a bit.. it is not good to stress much in pregnancy, although I personally know it is very hard.. it is just what we signed up for the moment we decided to have kids, constant worry here we come :D I really hope it will be all good at the next scan and you will have amazing healthy baby boy in 4 months :)

  • with the information I have said can you tell me anything? like do you think I'm at a great risk or low risk? I know you wouldn't be able to give a definitive answer but anything would help. Thank you for taking the time to reply to me, I was worried no one would.

  • if you have your screening results with the numbers I can have my personal view on that, generally I would think you are low risk, but problem with regular screening is that it is truly age-based and thus the detection rates are lower for younger women than older... it is also highly complex within the DS itself, as although it is always caused by extra chromosome 21, you have people with DS that can be fully integrated into society and they can talk and be almost independent and other are exact opposite.. What is my aim when I will get my scans done,I plan on asking the doctor doing them what would he say to older woman with those exact numbers as mine as that could help you overcome the age bias.. 

  • these were the findings at my last scan when I was 18 weeks:

    A single live foetus is present in breech position. Normal foetal heart
    motion is present and there are normal movements (FHR 157 bpm).
    Cervix length is 37 mm.

    Foetal biometry
    Stated EDD is 11/07/2018.

    | |MM |WEEKS |DAYS |
    |BPD |44.5 |18 |6 |
    |HC |161 |19 |1 |
    |AC |136.4 |18 |4 |
    |FL |27.4 |17 |6 |
    |HL |27.8 |18 |3 |

    Averaged ultrasound age is 18 weeks and 4 days (+/- 2 weeks) which is on the
    75th percentile (EDD: 09/07/2018)
    Gestational age by stated EDD is 18 weeks and 2 days (EDD: 11/07/2018)
    Estimated foetal weight is 257 grams.
    The placenta is anterior and is right-sided. Its inferior edge is 4.5cm from
    the internal os.
    There is a normal volume of amniotic fluid.
    There is a duplicated left renal artery. There is an echogenic focus noted
    in the left ventricle of the heart.

    The echogenic focus in the cardiac ventricle is unlikely to be clinically
    significant, but a follow up ultrasound is recommended in the third
    trimester for review.
    The renal structures could be reassessed at the same time.
    Morphology is best assessed between 19 and 21 weeks. Within the limits of
    the study no other foetal abnormality has been seen.

  • so from what I can say comes from scientific studies, the measurements are normal and they do not point out any problems, with regards to the 2 findings so the echogenic focus is in some studies said to increase the background risk of DS, however others only report low 1% risk.. it sometimes just gets away on its own and it won’t be there for your next scan. with regards to the duplication, that is one of the most common abnormalities found in healthy pregnancies, some studies reported it in 15-20%, it does not show clear links to DS and generally is not a big problem, however it might lead to UTI problems and when people with this duplications need renal replacement it might be more complex, but it is not a significant issue.. have you had biochemical screening from blood either in first or second semester? that measures fetoprotein and other proteins?

  • You are amazing and you have helped me feel SOOOOOO much better. I have another scan tomorrow to see if either of the defects have corrected themselves so fingers crossed for some good news.

  • I am glad to hear that :) fingers crossed all will be good :) let me know tomorrow how it went :)

  • how did your second scan go Jarkara?

  • how did the scan go? X 

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