Trisomy 18??!!

[Starrsmother]

Thank you for all the kind words. I am kind of a mess right now. The ultrasound we had was basically just to find out gender and get cute pictures. My regular ultrasound was not scheduled until nov 18, and I was very impatient to find out gender and if there was more than one. I’m not sure if she would have mentioned any abnormalities to me anyways since this was basically a gender reveal. The pictures are really not that great! The head was not always a nice clear shape but she said that was the placenta on top of the head. I have read that trisomy 18 babies have clenched fists, and I do have one picture of him giving a very clear peace sign with his two fingers held up! At the time we thought that was so cute, but it now means so much more to me than that!!

The specialist just called and said they could get me in November 20!!! So I have to go like a whole month thinking something is wrong with our baby. I broke down when she told me that so she said she will give papers to someone else and see if I can get in earlier! I was hoping like today!!!

Starrsmother -
So you would suggest the amnio even if my level 2 ultrasound comes back okay to completely rule trisomies out? I thought I would decline amnio if ultrasound was okay because I don’t think I could live with myself if I caused any more damage!! But I cannot live like this another 20 weeks thinking something is wrong. I cannot physically keep it from my kids who are 12, 10, 8, 5, 3, and 1. I would be a mess and the older ones would surely catch on. I don’t want them to worry for no reason though and I would also hate for them to be expecting this perfectly healthy baby only to be faced with a very sad outcome. I would honestly be more concerned with helping them deal with this than myself!!

NO.If your Level 2 is clearly okay and the specialist says not to worry that would be good enough for me–cause they can usually see things like cardiac problems a nuchal fold and measure limbs etc—see other signs in those. In 1987 when I was faced with your decision, Level 2’s weren’t routinely available and for sure not where I lived. But if the specialist honestly says he can’t be sure (even if he says something like “Well, I’m not positive, but I think he looks pretty good.”), if he suggests an amnio to rule Trisomy 18 out—I’d take it at face value and do it if I were you (which I’m not) Just reading your posts–can you really face wondering but not knowing for another 20+ weeks? Your posts remind me of myself when I got the news of my failed AFP–I was a crazy-lady inside. And like I said–half a pregnancy is a long old time to wait and worry!

 

[PhiloMed]

Before you start worrying about amnios, see what the dr says. My OB office doesn’t offer amnio routinely for this situation. They do the Materni21 test which is a blood test done in the mother and detects fetal chromosomes.

Wait and see what options they offer you for testing. Things have really advanced in the last few years. I am pregnant with #2. My son is 13 months old and this Materni21 test wasn’t available when I was pregnant with him.

 

[HouseArrest]

Look at the bolded section at the bottom:

From the Trisomy 18 Foundation website:
AFP Testing (Triple Test)

AFP TestingThe AFP test is the first screening test that many parents have in pregnancy.

The triple test (also commonly known as AFP or quad screen) is a maternal blood-screening test that looks for three specific substances: AFP, hCG, and Estriol. It is performed between the 15th and 17th week of pregnancy. Accurate results can still be obtained through 20 weeks gestation; in rare cases it may be performed up to 22 weeks. All pregnant women should be offered this screen, however it is particularly recommended for those over 35 years old. For detailed information about this test, see AFP Plus (from the American Pregnancy Association).

Sometimes a mother’s AFP or quad screen test comes back as high risk for Trisomy 18. It is important to note that this is not a diagnosis, but a risk because this is a screening test. See How Trisomy 18 is diagnosed for an explanation of the difference between screening and diagnostic tests.

Because this is a screening test, only about 11% of those who receive a positive result for Trisomy 18 in the screen will actually have a pregnancy affected by Trisomy 18 (see Information on Accuracy of Maternal Serum Screening Test for more information).

I have had so many of my friends be jerked around by this test that I refused to have it done after my first few pregnancies. Of course your baby may actually have it, but why in the world would it be hospital policy to send 9 out of 10 families into a state of unnecessary panic by performing this screening, and not offering immediate further testing? I cannot imagine.

 

[Cathmomof6]

Look at the bolded section at the bottom:

From the Trisomy 18 Foundation website:
AFP Testing (Triple Test)

AFP TestingThe AFP test is the first screening test that many parents have in pregnancy.

The triple test (also commonly known as AFP or quad screen) is a maternal blood-screening test that looks for three specific substances: AFP, hCG, and Estriol. It is performed between the 15th and 17th week of pregnancy. Accurate results can still be obtained through 20 weeks gestation; in rare cases it may be performed up to 22 weeks. All pregnant women should be offered this screen, however it is particularly recommended for those over 35 years old. For detailed information about this test, see AFP Plus (from the American Pregnancy Association).

Sometimes a mother’s AFP or quad screen test comes back as high risk for Trisomy 18. It is important to note that this is not a diagnosis, but a risk because this is a screening test. See How Trisomy 18 is diagnosed for an explanation of the difference between screening and diagnostic tests.

Because this is a screening test, only about 11% of those who receive a positive result for Trisomy 18 in the screen will actually have a pregnancy affected by Trisomy 18 (see Information on Accuracy of Maternal Serum Screening Test for more information).

I have had so many of my friends be jerked around by this test that I refused to have it done after my first few pregnancies. Of course your baby may actually have it, but why in the world would it be hospital policy to send 9 out of 10 families into a state of unnecessary panic by performing this screening, and not offering immediate further testing? I cannot imagine.

If this turns out ok and I should ever become pregnant again - which quite honestly scares me tremendously now that at 36 my age already seems to be a huge factor - I will DEFINiTELY NOT get this test again. It has caused me more heartache in 2 days than I wish to endure without definite reason to. Even if this does come back ok, I suspect that I will be a little crazy about every single symptom or complication that comes up this entire pregnancy. I am usually very calm and laid back during pregnancy, and this has made me a nutcase!!!

 

[PhiloMed]

If this turns out ok and I should ever become pregnant again - which quite honestly scares me tremendously now that at 36 my age already seems to be a huge factor - I will DEFINiTELY NOT get this test again. It has caused me more heartache in 2 days than I wish to endure without definite reason to. Even if this does come back ok, I suspect that I will be a little crazy about every single symptom or complication that comes up this entire pregnancy. I am usually very calm and laid back during pregnancy, and this has made me a nutcase!!!

This has been me with both pregnancies, but was a huge reason why I wanted to start our family before I was in the 35+ age range. My mother was 39 when I was born and was reminded many times how much higher risk she was for genetic anomalies. She didn’t have even an ultrasound (30 yrs ago). I also declined any of the prenatal testing other than the anatomy scan. I felt like the information was only going to make the pregnancy more difficult rather than put me at ease.

 

[triumphguy]

If this turns out ok and I should ever become pregnant again - which quite honestly scares me tremendously now that at 36 my age already seems to be a huge factor - I will DEFINiTELY NOT get this test again. It has caused me more heartache in 2 days than I wish to endure without definite reason to. Even if this does come back ok, I suspect that I will be a little crazy about every single symptom or complication that comes up this entire pregnancy. I am usually very calm and laid back during pregnancy, and this has made me a nutcase!!!

After our baby was born with down syndrome we refused testing for our later kids, just because we weren’t going to abort whatever the diagnosis and whatever the kids were born with, after having one kid with Downs we reckoned we could handle it.

 

[Luigi_Daniele]

Prayers offered for you and baby.

 

[skigirl1689]

If this turns out ok and I should ever become pregnant again - which quite honestly scares me tremendously now that at 36 my age already seems to be a huge factor - I will DEFINiTELY NOT get this test again. It has caused me more heartache in 2 days than I wish to endure without definite reason to. Even if this does come back ok, I suspect that I will be a little crazy about every single symptom or complication that comes up this entire pregnancy. I am usually very calm and laid back during pregnancy, and this has made me a nutcase!!!

I am praying for all of you! I understand how the possibilities of a difficult outcome; I’ve had a lot of them in my short life between my own health and my family members’.

My mom had my sister at 37 and she refused all tests even though I was born with a disability (likely not genetic, but my umbilical cord had an extra vessel, and I ended up having a blood clot in the cord, causing oxygen deprivation, hence my CP).

However, now that you have the possibility of an issue, perhaps finding out for sure will help you and your family prepare…I don’t know, but know God has a plan despite all of this pain.

 

[MomaMary8]

If this turns out ok and I should ever become pregnant again - which quite honestly scares me tremendously now that at 36 my age already seems to be a huge factor - I will DEFINiTELY NOT get this test again. It has caused me more heartache in 2 days than I wish to endure without definite reason to. Even if this does come back ok, I suspect that I will be a little crazy about every single symptom or complication that comes up this entire pregnancy. I am usually very calm and laid back during pregnancy, and this has made me a nutcase!!!

My very pro life OB told me not to even bother with the AFP test once I was over 35. She said age was a factor in the results and I would more than likely get a false positive. I’ve since had 4 healthy babies over 35 (2 in my 40’s.) Hang in there OP! Prayers for you!

 

[PhiloMed]

Cathmom-

Was your appointment today? How is everything going?

 

[Cathmomof6]

Thank you, thank you, thank you for all your prayers!!! Our level 2 ultrasound was perfect - not one single marker for Trisomy 18. The genetic counselor said that the ultrasound would detect something 70-80% of the time. To be extra sure I had blood taken for that new DNA test that counts fetal chromosomes. We were told that is still a screening tool but would detect it 99% of the time with very few false positives. That will take 2 weeks to come back. We decided the blood test combined with a good ultrasound makes us feel ALOT better and so declined the amnio.

I am over the moon happy!!! I feel pretty confident the bloodwork will be okay since the ultrasound was good. Praise God!!! Thank you sooooo much for all your prayers. All signs seem to point to a healthy baby boy!! We decided to name him Abram Joseph and call him Abe for short. I felt he needed a name after all this!

If we are ever blessed with another baby, I will not take that afp test again!! Lesson learned!!! Thank you for you kind.advice, support, and prayers!!!

 

[PhiloMed]

So happy to hear that! What wonderful news!

I’m with you on the AFP test. I’m 32 and I still declined both that and the other early ultrasound with the markers for genetic problems. It was just too stressful worrying about it.

Also really glad they were able to offer you the Materni21 test so you didn’t need an amnio!

 

[His_helpmeet]

I’m so happy for you!!! I’m not a big fan of the routine quad screen either - too much potential to create anxiety where there doesn’t need to be any, such as for you.

My suspicion is that your baby will be healthy based on the fact that they didn’t see anything on the ultrasound. Obviously, you don’t know for sure, but there are some facial features and limb deformities that are characteristic of trisomy 18 and would likely be picked up on an ultrasound.

 

[triumphguy]

Thank God all our prayers were answered.

But - and I’m only saying this because I have a child with downs - you might have been amazed by how God;s blessings come through even if things don’t turn out "right, even when there’s grief and loss.

Not trying to make you feel guilty AT ALL - I’m really pleased for you - but our son has also been a blessing in ways we couldn’t imagine. Now Trisomy 18 is even more devastating, but God’s grace shines through.

Anyhow - enough of me rambling. I’m really happy for you and your family , and of course the baby.

 

[Starrsmother]

I am just so happy for you that I don’t know what to even say! I don’t know though, if I were you and if I chose to have another child after this whether I’d decline an AFP test or not. That’s a hard one—if you ask me anyway. My first thought is “No, I’d never do it again because it is so often wrong–and it’s only a screening test. If I got another false positive, I’d have to go through all this again–and that would just really suck!” However, the simple fact is that one reason maternal age is used as a value when they correlate a positive or negative result, is that the older you get–the greater the chance is that you will inevitably toss the dice and end up with a child with a Trisomy defect. That is just simply a fact.–if a woman keeps having babies into her 40s and unless see is very lucky indeed–eventually her luck runs out. Yes, some women have a baby even at close to 50 and it’s perfect. But I can show you two to that one woman who just aren’t so fortunate. How you and your husband face this risk and how you feel it would impact your life is something that only you and your husband can, and have the right to decide. If you want to accept the risk—then, by all means, you SHOULD continue having children. I love kids too–and I truly can understand anyone being willing to accept the possibility–as awful as it is. I can also understand a couple looking at the family God has blessed them with thus far and deciding that they feel lucky to have dodged the bullet up to this point, and that even if it’s only for the sake of the children they already have and upon realizing the impact on the whole family if they added a child who would require so much of their time, attention and finances, that they decide to stop. I know it’s a hard choice–it sure was for me anyway.We prayed about it for months–and either decision is a good one I think–but it is something that you guys probably should at least talk about before it “just happens” again. I’m sure that like my husband and I, you guys would never terminate a pregnancy for any reason–so the time to decide is before you have # 8 on board, y’know.

At any rate, God be praised for His mercy and that you will have a much loved 7th child! Congratulations–and praise God for this wonderful gift of a new life! Do remember though–in the future–that whether or not you do get pregnant again and whether or not you choose to have the AFP test with a subsequent pregnancy, that the risk is there. If you do get pregnant again–the child may have a Trisomy defect, has a really solid risk of having one as you get closer to or over 40–and all that will change if you don’t have the test, is that if the next baby does have the problem, you will go through the entire pregnancy and only find out when you deliver the child. Not having the test doesn’t change anything–except prolong the time until you find out one way or the other. If a baby has a Trisomy, he or she has it from conception–so not having an AFP test doesn’t change whatever is or isn’t the case. I offer no advice–it would not be my place to do so. I so loved all my babies. I enjoyed being pregnant–unlike many women, I had easy pregnancies and deliveries. I enjoyed breastfeeding all of mine too–and at least two of mine were breastfed for for over two years. So I totally understand how hard it is for many of us women who, like me, do enjoy motherhood and treasure their children to say “No more for me”, I’ve even sometimes wished in retrospect that I’d weaned my kids earlier----as I am one of those women who never got their cycles back until completely weaning which ever one was nursing. Thus, if I’d weaned earlier, I might have had more than the 5 living kids God blessed me with. (I lost one–for a total of 6 pregnancies). If I’d had 10 kids–and could have gotten pregnant in my 20’s or even up to age 35–I’d have loved to be the mama to 10!! That last pregnancy at 37 though, made my husband and I do some real soul searching. So whatever you decide, good luck and God bless your whole family–and especially you! I’m so glad that this little angel is perfect–oh, and I love his name!!!

 

[heidi_storage]

Hurrah! So happy for you! God bless your pregnancy and your family.

Look, although it’s completely true that advancing maternal age means a much greater risk for fetal anomalies, the absolute risk is still not what we’d think of as high for other outcomes. If you had only a 1:35 chance of winning something, you wouldn’t consider it a good chance; 1:35 is the odds of having a baby with Down syndrome at age 45. Of course, this is true for all anomalies, so the total risk is higher–but if you do happen to find yourself pregnant again, try not to get too worried.

 

[heidi_storage]

Thank God all our prayers were answered.

But - and I’m only saying this because I have a child with downs - you might have been amazed by how God;s blessings come through even if things don’t turn out "right, even when there’s grief and loss.

Not trying to make you feel guilty AT ALL - I’m really pleased for you - but our son has also been a blessing in ways we couldn’t imagine. Now Trisomy 18 is even more devastating, but God’s grace shines through.

Anyhow - enough of me rambling. I’m really happy for you and your family , and of course the baby.

Your dependence on God’s grace is wonderful and inspiring!

 

[Cathmomof6]

Well that is definitely my next dilemma to ponder. Should we be “done” having kids all together??? The genetic counselor we met with said that since I am over 35 and have tested positive on an afp test, I can opt to decline the afp test and go immediately with the blood test that was taken to count fetal chromosomes (not sure of the exact name but someone else has mentioned it) That test has a very low false positive rate. I would probably do that because if our baby would have any problems, we would want to deliver in a hospital more equipped for that situation, and I would like to prepare myself!

As far as any future babies, that is a very difficult question. Like you, my pregnancies and deliveries thus far have been pretty smooth. I LOVE my kids soo much and really enjoy the new dynamic and relationships that each new baby brings!! I am able to stay at home to care for them, and my husband’s job provides well enough that our kids really are able to enjoy things that most large families can’t, such as eating out and nice vacations. Not that that is necessarily any better for them, but it does factor into our decision!! And we HATE NFP, not to mention that we are not very good at it! Our last 2 pregnancies have been while our intentions were to avoid. Both of them were conceived post ovulation when we thought we were safe. Our fertility seems to be increasing instead of decreasing. Abstaining for long periods of time is really hard on our relationship. We definitely benefit from the physical connection.

My primary reason to be done would probably now be my age and the increased risk for birth defects. I would definitely love and cherish that special baby but would also feel very guilty for somehow causing his/her problems simply because we were to weak to abstain for awhile. I don’t know how this pregnancy will go. I am kind of anticipating a lot of problems. My blood pressure seems to be creeping up, and I have never had issues with that before. I have significant arthritis in my hips, which has amazingly not been bothering me much. I am afraid I will develop gestational diabetes, which I have never had but have been close. And my platelets always run low, which really only means no epidural for me! All of this frustrates me to no end because I have been an avid runner for the past 15 years and am normal weight. That was supposed to protect me from things like high blood pressure and diabetes and instead seems to have ruined my hips. But my relatively minor problems aside, the big reason to be done would be birth defects.

I really don’t know how to decide this. I would like to continue as we have and try to avoid a future pregnancy but without the long term abstinence. We have been trained in every method of nfp, except billings. I just need something more concrete to be sure. Otherwise, we end up using all the questionable days and then seem to always get pregnant. I have thought about purchasing ovacue or ladycomp or some similar kind of device that tells me yes or no without all of the gray area. But I don’t know if anything really is out there that does that, especially with breastfeeding.

Is the risk of birth defects for an “older mom” a strong enough reason to require long periods of abstinence for a loving couple? I can see health issues or finances or emotional stress or whatever. But I just can’t decide if it should be our only reason as it seems to be. I guess this will be something for us to pray about. In the mean time, I will enjoy this newest blessing and praise God each day that he seems to healthy. He is very special to us already!!!

 

[Angel_Gabriel]

Well that is definitely my next dilemma to ponder. Should we be “done” having kids all together??? The genetic counselor we met with said that since I am over 35 and have tested positive on an afp test, I can opt to decline the afp test and go immediately with the blood test that was taken to count fetal chromosomes (not sure of the exact name but someone else has mentioned it) That test has a very low false positive rate. I would probably do that because if our baby would have any problems, we would want to deliver in a hospital more equipped for that situation, and I would like to prepare myself!

As far as any future babies, that is a very difficult question. Like you, my pregnancies and deliveries thus far have been pretty smooth. I LOVE my kids soo much and really enjoy the new dynamic and relationships that each new baby brings!! I am able to stay at home to care for them, and my husband’s job provides well enough that our kids really are able to enjoy things that most large families can’t, such as eating out and nice vacations. Not that that is necessarily any better for them, but it does factor into our decision!! And we HATE NFP, not to mention that we are not very good at it! Our last 2 pregnancies have been while our intentions were to avoid. Both of them were conceived post ovulation when we thought we were safe. Our fertility seems to be increasing instead of decreasing. Abstaining for long periods of time is really hard on our relationship. We definitely benefit from the physical connection.

My primary reason to be done would probably now be my age and the increased risk for birth defects. I would definitely love and cherish that special baby but would also feel very guilty for somehow causing his/her problems simply because we were to weak to abstain for awhile. I don’t know how this pregnancy will go. I am kind of anticipating a lot of problems. My blood pressure seems to be creeping up, and I have never had issues with that before. I have significant arthritis in my hips, which has amazingly not been bothering me much. I am afraid I will develop gestational diabetes, which I have never had but have been close. And my platelets always run low, which really only means no epidural for me! All of this frustrates me to no end because I have been an avid runner for the past 15 years and am normal weight. That was supposed to protect me from things like high blood pressure and diabetes and instead seems to have ruined my hips. But my relatively minor problems aside, the big reason to be done would be birth defects.

I really don’t know how to decide this. I would like to continue as we have and try to avoid a future pregnancy but without the long term abstinence. We have been trained in every method of nfp, except billings. I just need something more concrete to be sure. Otherwise, we end up using all the questionable days and then seem to always get pregnant. I have thought about purchasing ovacue or ladycomp or some similar kind of device that tells me yes or no without all of the gray area. But I don’t know if anything really is out there that does that, especially with breastfeeding.

Is the risk of birth defects for an “older mom” a strong enough reason to require long periods of abstinence for a loving couple? I can see health issues or finances or emotional stress or whatever. But I just can’t decide if it should be our only reason as it seems to be. I guess this will be something for us to pray about. In the mean time, I will enjoy this newest blessing and praise God each day that he seems to healthy. He is very special to us already!!!

First, congratulations on you level 2 ultrasound looking good! That must be a huge weight off your chest!

Second, I can really understand some of your frustration and confusion regarding having more kids. I love big families but as I’ve gotten older my outside help has slowly diminished and our income has gone down as well. I work part time as a Certified Massage Therapist which has started to help but we still have bills and debt to pay down. I have 2 kids who have some special needs/learning disabilities. I also have 2 blood clotting disorders which require me to be on blood thinners for any pregnancy…and I’ve had 4 miscarriages. This baby was not a planned baby like the other 3 were and I was very hesitant in accepting the whole thing. I still pray every night that he is ok and doesn’t have any problems b/c let’s face it dealing with special needs is hard…and I already have 2 kids who need extra help.

I don’t really like doing NFP either primarily b/c it’s frustrating to have to abstain when I am most in the mood and then to have to try to get in the mood when I’m honestly not…sigh…

 

[VivienneJ]

Thank you, thank you, thank you for all your prayers!!! Our level 2 ultrasound was perfect - not one single marker for Trisomy 18.

Wonderful news!

If we are ever blessed with another baby, I will not take that afp test again!! Lesson learned!!! Thank you for you kind.advice, support, and prayers!!!

I’m with you on the AFP test. I’m 32 and I still declined both that and the other early ultrasound with the markers for genetic problems. It was just too stressful worrying about it.

My daughter’s doctor advised her not to have any of the available screening tests done as he knew she would still carry any pregnancy as far as God wanted it to go, regardless of the outcome.

But - and I’m only saying this because I have a child with downs - you might have been amazed by how God;s blessings come through even if things don’t turn out "right, even when there’s grief and loss.

I have to echo this, one of my most fulfilling years as a teacher was the year I had an extremely precious little boy, with Downs, in my kindergarten class. He taught me so much that year.