To Test or Not To Test…

Ben sitting and holding Spiderman

Finding out we were pregnant again was very stressful. We love Ben dearly, and he has brought our family so much joy, but all the same we worried about having another baby with CdLS. We understood that the recurrence rate for CdLS is fairly low, at 1-2% overall, but it was not zero. If anything, we were more likely to have a second child with CdLS than we were to have had Ben in the first place!

Most of the time, the mutation that causes CdLS is a sporadic event in the affected individual, and theoretically should not recur in a subsequent pregnancy. However, a few families do have more than one affected child. One possible explanation for how this happens is germline mosaicism in which one parent carries the mutation in the sperm or the egg but not in most of the other cells of the body. If germline mosaicism is present, then the recurrence rate for CdLS can be quite high; up to 50%.

It is a very personal decision whether or not to have special prenatal testing of a subsequent pregnancy to determine whether the new baby has CdLS. We opted to do this mainly for peace of mind, and to help us plan for the future if this new baby DID turn out to have CdLS, but we understand that many families may decide that the odds of recurrence are so low that special testing is unnecessary.

We had an ultrasound early in the second trimester, mainly to confirm my due date, and also to see if our new baby had any obvious limb differences. I had a routine quadruple screen blood test at about 16 weeks (which, incidentally, I never had with any of my previous pregnancies). I had a more detailed Level 2 ultrasound later in my second trimester. All of these tests turned out to be normal. If I had done my research earlier, I would have also requested a PAPP-A test as well. Low PAPP-A levels in the second trimester can be associated with CdLS.

The next big decision was whether or not to pursue more invasive genetic testing on the new baby. Genetic testing for CdLS is available through the University of Chicago Genetic Services Laboratory. We had already obtained a blood sample from Ben last summer, and his sample was sent to the University of Chicago for testing. A mutation was found in Ben’s blood sample in the NIPBL gene on chromosome 5, so it was possible to test the new baby for the same genetic mutation by obtaining fetal cells by amniocentesis. We opted to have this done (not an easy decision since amniocentesis has a 1 in 300 risk of miscarriage), and the amniotic fluid was sent to the University of Chicago along with blood samples from myself and my husband to be tested. None of the three samples had Ben’s mutation, so we are fairly certain that this new baby does not have CdLS.

In pregnancy there are no guarantees, and we still don’t know what special challenges our new baby may have. I am not sure how many parents of kids who have CdLS choose to have all of this prenatal testing for subsequent pregnancies. For us, having the tests helped to decrease our stress level considerably, and I am glad they were available, and that we had them done.

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13 Responses to “To Test or Not To Test…”

  1. Misty (mason's mom) Says:

    Thank you thank you for this info!! it is very ver helpful for those of us who want to have more children in the future!! i am so happy for you and I LOVE THAT PIC OF BEN!! LOL!! i cannot wait until Mason can sit up and get the heck off of his back!! LOL! again, Congratulations!

  2. Maureen Says:

    I’m so glad all your tests went well. As invasive as it is, I agree with you: I’d rather know ahead of time so I can prepare myself. Joel and I obviously fit in the germline mosaicism category. We didn’t realize it until issues came up with Hope and we’re now in the process of getting her blood drawn to look for the actual mutation. If we can find it, obviously, that’ll be a huge help with future pregnancies. The recurrence rate for us is like you said as high as 50 percent. I don’t know if we’ll puruse in vitro or what. We need to find the mutation first.

    Well congrats. It must feel good to have one less MAJOR thing to worry about. Enjoy your pregnancy! I can’t believe you’re going to have four boys! Wow! 🙂

  3. lisa leonard Says:

    I agree its a very personal decision. We did lots of ultrasounds with Matty, but nothing else. We knew we wouldn’t end the pregnancy. So glad the testing went well. Hugs!

  4. ariel Says:

    I feel sad when i learned that your adding one in the family because i know in one way or the other my sweet ben will get little attention than he used to get from from both of you and the from the two boys….it will break my heart to see angel ben relegated in the siderings when this new boy arrived…

    please do not lessen the love and attention you shower my angel ben even when the new arrive please? more than anyone else in the family Ben needs all the love, patience and understanding he gets for him to develop into a valuable member of the society someday…

    thanks and i am sending my warmest hugs and kisses to Ben, and also for the two boys….

  5. Karen Says:

    Ariel: why would you think that Ben would be relegated to the sidelines and that he would in any way get less love and attention than he does now? Our lives will always revolve around him and his needs to some degree. Ben will always be our “baby”.
    Love doesn’t diminish when you have another child; it multiplies. I actually think that having a little brother will be a godsend for Ben’s growth and development, and will help him in ways that we never imagined.

  6. lisa leonard Says:

    i completely agree! having a younger sibling has been such a blessing for david. For a while they were a lot like twins and david continues to love/drive matty crazy. silbings are the best gift a parent can give there child. and you’re right, ben will always be the baby. on a side note, i was surprised that david wanted nothing to do with matty for a few weeks after matty was born. i thought he wouldn’t even notice the addition, but he definitley did! he would fuss anytime we tried to put matty near him. but passed quickly and now they are buds. hugs!

  7. Misty (mason's mom) Says:

    i have heard, but i’m not quite sure where, that having a sibling close in age helps with the development of kiddos with cdls…i am new to the cdls world and am still learning every day. i can’t see how it would hurt AT ALL to add another person to the world that will love ben!! what a wonderful gift to give him. i hope to someday do that for my son…

  8. Sonia Says:

    I’m so glad all your tests went well. Your post helped me out alot. We have been hesitant but still trying to get Natalia a little brother or sister. We know that it’s heaven sent for our kid’s development but we can’t help but get nervous about, I think thats why it hasn’t happened yet. Personally I would undergo all the tests myself… just because I would prefer to know too. You gave me peace of mind with all the info out there (I really didn’t want to research fearing what I would find), THANKS! 🙂

  9. Liza Says:

    My middle child has a moderate-to-severe developmental delay, and despite a vasectomy received a little sibling 14 months later. It’s done wonders developmentally, because delays associated with genetic syndromes seem to be trumped, to a certain extent, by the natural desire to not be outdone by a YOUNGER sibling, LOL!!! If you still wanted to add to your family but didn’t BECAUSE of Ben, now THAT would be doing him a disservice if you ask me (not that anyone did). I’m glad you were able to find some peace of mind through the testing, and hope your next little one will spur Ben on to do amazing things!

  10. ariel Says:

    Karen, I just read your email today and did a quick reply I was so busy with work, I have apologized there….again here, please accept my apology, my fear have proven to have no basis after all…

    Yes, our Little Ben would always be center of love from people around him and even from me who is thousand of miles across the pacific..

    Lizas post above was really a nice one with the coming of the next boy Our Ben will spur to do more amazin things as he grows up…

    I am sendin my warmest hugs to you and your family and especially tiny Ben….

    Take care always….

  11. Karen Says:

    Thanks, everyone! I can’t wait to see Ben’s reaction to his new baby brother – I hope they turn out to be good friends.

  12. Tammy and Parker Says:

    I think Ben and his new brother will be the best of friends. So many times a younger sibling can be exactly what an older sibling needs to spur on his motivation to reach new milestones.

  13. Leah Says:

    Well, I say congratulations!!!! I have a daughter who has Down Syndrome, and we, as parents of kids with DS, go through the same struggles when we decide (or are surprised) to have another child. There are 3 types of DS, one of them is inherited. But I have several friends who have kids who have the garden variety of non-inherited DS, and have gone on to have another as well. For me, the decision was made for me when it was found I couldn’t carry another pregnancy. I would have LOVED to give my daughter a younger sibling. (her 4 brothers are 7-10 years older than her) because now at 12 she’s very much an only child….and I never wanted an only. Anyway, congratulations to you. Your baby will bless your family for sure!


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