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  1. #1
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    Default Should I be upset that my bubs deformaties were'nt picked up?

    Long story short. We just had a beautiful baby boy 6 weeks premature. He was born with DiGeorge syndrome, ie 22q deletion syndrome. When he was born he had Talipes of the wrist and feet ie Clubfoot and Clubhand. He's missing his radius bone in his arm and missing his thumb. He also has a heart condition known as Tetralogy of Fallow which includes having a hole in the middle of his heart. He has an extra rib and some hemi-vertebra's in his spine.

    Now my best friend is quite alternative and didn't have an obstetrician or do any scans and had a home birth to a perfectly healthy girl. Im not like my friend though. I wanted the best obstetrician to do as many scans and tests as possible to give me the best chance at having a healthy baby. So we got the most expensive most recommended obstetrician we could find.

    As we lost our last baby at 20 weeks, we wanted to get scanned more often than normal to which we did. My wife also had gestational diabetes which meant she had to be closely monitored. So she was scanned every 3 weeks and even had a 3d scan at 32 weeks I think. Our obstetrician did all the internal and external scans himself and didn't pick up any of these problems the whole way through. He never referred us to get scanned at a proper Radiography Clinic neither.

    We went through IVF with him to which I find out now that they can pre-test the eggs for chromosomal problems before they implant. You can also get a blood test for DiGeorge syndrome to which he never informed us about.

    So I don't know if I should be upset with our obstetrician or whether all these things aren't that easily picked up. Im definitely angry with myself to the point of anxiety and depression. Instead of being the best day of our lives it was the worst. Finding out all these problems as a surprise and having to rush him from hospital to hospital over the coming days was quite stressful to say the least.

    Would just love to hear someone else's opinion or if anyone else has been through this similar situation.

    Thanks
    Todd

  2. #2
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    Hi Todd

    You have every right to feel upset, along with a huge range of other emotions. No one should be telling you how to feel when you've been through something like this.

    Have you spoken with a genetic counsellor? I really think you would benefit from seeking some expert advice. It may also be helpful to connect with a DiGeorge syndrome support group. It can be isolating when you have a child with a rare condition, so talking to others going through similar experiences can be really valuable.

    I have no experience with this, however I couldn't read and not post. It must have been so shocking to only find out about all your sons issues after he was born

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    Hiya,

    I would be questioning your OB about what his sonography qualifications are and who interpreted the scans. I had a morphology scan at 20 weeks with all my babies and they specifically check for all digits and look at the spine.

    If you asked for a proper scan and he refused ask him why.

    With regards to genetic testing for deletions I don't know a lot but I would be inclined to think that they can't test for every deletion and may not routinely do that if you don't have a history of that deletion.

    If you don't have any luck speaking to the OB you can always talk to the medical board and see what they suggest.

    I would make sure you put it in writing and ask for a reply in writing.

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    I'd be getting in touch with a lawyer, it sounds like medical negligence. I'm so sorry what should have been a joyful day has been marred by the health problems of your little boy.

    it sounds like your OB definitely has some explaining to do. was he a RANZCOG? I wonder if you could contact the college and report him for negligence/malpractice.

    obviously it won't change anything now but it sounds like this person needs to be thoroughly reviewed so that they're not given the opportunity to do this again.

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    Number one, just because they CAN test for something, doesn't mean they will. If there is no family history of it there is no reason to test for it. Sometimes people are just unlucky in that regard.

    I would be questioning why you didn't have any formal ultrasounds. Unless your wife's obstetrician was a maternal fetal medicine specialist, you should have been referred to a proper sonographer for a morphology scan around 20 weeks. While not every anomaly is picked up on scan, there are certainly a few things that should have been spotted. The tetralogy of fallot, the missing radius, even the talipes should have all been visible to a trained sonographer. If your obstetrician is not qualified in this area, then he had no business taking it upon himself to do all of the scans.

    In all fairness to the doctor as well though, ultrasounds performed by the obstetrician in their rooms aren't actually about picking up abnormalities, it's usually about checking growth, hearing/seeing the heartbeat and a basic check of the volume of amniotic fluid around the baby. If your doctor wasn't trainee to look for/pick up these abnormalities then that aspect is out of his scope of practice. Also the ultrasound machines used in obstetricians offices are usually quite basic. A proper radiology clinic/MFM department would have had more comprehensive equipment and the view of baby would have been far greater than in your doctors office.

    I would be more asking questions about why you didn't have formal scans. A trained sonographer would most likely have picked up some/most of these anomalies.

    In saying that, a diagnosis on scan is not absolute. Not everything could have necessarily been picked up on an ultrasound. For example, even someone with a low risk result for trisomy 21/Down's syndrome can still have a baby affected by trisomy 21. Even if the scans look normal and the risk ratio is 1:20,000. Sometimes it is just bad luck.

    My advice. Talk to your doctor about your concerns. Talk to the hospital where you had baby. Talk to the neonatal specialists about your baby and the diagnosis. Talk to an MFM department if you can (not sure if this would be hard or easy to achieve) to get their opinion on it. Sure, talk to a medico legal expert as well, but just don't fly off the handle and become irrational about it because it will get you nowhere. You'll get far better results if you don't get angry. Absolutely if there has been malpractice then fight for your son, but do it smartly. If you fly off the handle and accuse the obstetrician of malpractice without proper evidence that a reasonable person in his position would have picked up the abnormalities, sent you for a formal scan where they would have picked up abnormalities etc etc then you could be facing a defamation suit.

    Best of luck for your boy.

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    Thanks a lot. Yeah we did have to see a genetic councillor which found out that neither of us have the genetic condition that our son does. 22q deletion is quite rare but they still think it's almost as common as down syndrome.

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    Hi there. Thanks for your reply. Yeah I think I need to look into our obs qualifications in sonography. I think I recall him saying he didn't trust anyone else to do the scans. He may have been a bit arrogant as he's well known in the field. As for the genetic testing it's not routine but I think we should have been given the options.
    You said there's a medical board in your post. Do you know how I could contact them?
    Thanks A lot.
    Todd

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    Thanks for your reply. It does put me in a hard situation because I really really liked our obstetrician and I can totally understand missing something in the scan. It's just that so many things were missed so many times that gets me questioning. They obstetrician does say that he is fully qualified to do the scans and has the best equipment but Im not so sure. The only thing he did pick up on was that our baby was measuring a bit small the whole way through the pregnancy. I must admit that I can see the hand deformity clear as day on the 10 second 3d scan that he gave us to take home on a usb.

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    My Obstetrician is a F.R.A.N.Z.C.O.G but I have no idea what that is???

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    I'm sorry for the experience you have gone through. As with any concern or issue I think it's best to meet directly with the person involved ie/ your OB first. Make an appointment with them face to face for a debrief on what has happened. I think once you talk it over with them you will have a clearer idea if or how to proceed further should you so wish. Write down a list of questions or points prior to the appointment so the emotion doesn't make you forget to ask something. All the best

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