First Trimester Downs "Risk Assessment" Question

[BreezysMom]

I can help with this...this is what I do every day! I work in Maternal Fetal Medicine Center with Perinatologists.

The first trimester screening is a blood test in conjunction with an ultrasound. They measure the skin fold thickness in the back of the baby's neck via ultrasound. The most optimal time is to do this is between 11-13 weeks. The lab that patented the test is called NTD labs. They take the measurement done in ultrasound and the blood results to calculate your risk of having a baby with Trisomy 13, 18 and 21(Down syndrome). This is a low risk screening. It is just that though, a screening. The only definitive way to find out if your baby has one of the above is to do a CVS or amniocentesis. Yes there is a risk to the pregnancy with both.

I have been doing this for 11 years, since it was in the trial stages and it is an amazing test. It is little to no risk and in my experience has detected chromosome abnormalities early in the pregnancy. If your risks come out to 1 in 10, 000 you will be relieved. If you find that you are increased risk, there are things that docs may be able to do during your pregnancy to guard the health of the baby once born.

The sequential screen in an additional blood test that is done about 15-16 weeks and is used in calculation with the first trimester screening. It goes further to test for the trisomy syndromes and also looks for neural tube defects.

Do not confuse the sequential screen that is used in conjunction with the first trimester screening with the quad screen or also known as AFP test that is done at 16 weeks.

Yes, the quad screen tends to have a lot of false positives. We see a few a week. But if there is a family history of neural tube defects, it is a valuable test as you can treat an infant in utero or immediately after birth if there is a problem.

If you would prefer not to have the testing that is your choice. Some OBs may push the test more than others. In the end it is your choice. If you really don't want to do the screening, I would just opt for a Level 2 ultrasound that is done between 18-22 weeks. This ultrasound will check the overall health of the baby as it is a detailed look at the heart, brain, limbs and so forth.

I talk to people every day who wonder if they should do the screening. 11 years ago we saw about 12 patients a day and now we see triple that amount. Not just advance maternal age patients (35 and older at delivery) but the young ones too!

I am sure your OB or one of his nurses can counsel you a bit more if you are so unsure. Good luck with your decision.

 

[starann]

I understand the stres of it. I have nothing but stress during my pregnancies, I am high risk and feel like I live at either the OB office or the peri office.

I have had every test they have offered, not becuase I enjoy them or the stress they bring on, but I am a person that wants to know in advance if there is a problem, so I can research and be prepared for any outcomes, contact specialists if needed...basically be the best parent I can by being proactive with infor and teaching (this way should a baby be born sick I have less to be shocked/worried about it and more time to focus on the happiness of it all, and get any treatments started)


That all being said, we never found out the sex of any of our babies!!!!! We didn;t want to know!

 

[Rylee]

Dec. 18 -
I had an amniocentesis with our last child. I was 40 years old and would turn 41 just before delivery. I was hoping it would relieve my worries, but knew if we received bad news, we would still have and love our baby.

Dec. 26 -
My DH's mother passed away, she loses her 9 month battle with cancer. On the morning of her wake, they called to ask us to come back in and have another amnio, they thought they had contaminated the first with my blood.

The results of the amnio was normal, but during the second one, they discover a birth defect while viewing the baby through sonogram. Too early to diagnose. On the drive home, DH says, "I spent the last 9 months of my life watching my mother die, now I have to wait the remainder to these 9 months to know if my baby will live."

Jan. -
For the next few weeks, I return almost weekly as they/we were waiting for the baby to grow, hoping to have a better view of which organs were involved.

Each week, my Doctors reminded us... "There's still time to abort."

Feb. -
Finally an answer... a very rare birth defect, 1 in 40,000 births. (Not related to my age.) Baby will need surgery immediately following his birth and need to remain hospitalize for his first month.

After a lot of research, and interviewing many doctors, we chose to deliver our baby out of state, 350 miles from home, to be near his specialist.

Today -
We have a beautiful, smart, loving, funny, 8 year old boy. He's had 5 surgeries, with more scheduled in his future, and although there is no cure, he's doing great! He's our miracle baby.

Over the years, through research and support groups, we've learned how important it was/is to find expert specialist. We are so thankful we knew in advance, were able to find competent doctors, prepare our other children, and learn all we could to find the very best care and help our son.


OP - I hope our story doesn't alarm you, I just wanted to share our experience, as someone who went through it all... and is so glad we did.

 

[Rylee]

JodiFla...that is because you are one of the few people who are being completely honest. It is very easy for someone to say "oh, of course I would have the baby and love it no matter what"...while that is probably true in the majority of cases....people don't understand how difficult it is to raise a child with special needs....whatever needs they might be. There is alot that comes with having a baby, and even more when they are sick.

My daughter is absolutely the best thing that has happened to ME, but she and her issues have also been the hardest thing I have EVER done in my entire life. As I said before, I have 3 other children. Every time my daughter is sick and in the hospital, I leave those 3 kids home without their mother. Is that fair?? Do we make it work, certainly. But our choice to continue on with our pregnancy wasn't one that just impacted me, my husband and the baby. It also affects all of the family that I have to rely on to take care of my other 3 children so my husband can continue to work to keep the health insurance that we so desperately rely on now. It also affects every single taxpayer in the state of NH who now finances my daughters health care through the Katie Beckett waiver which allows us to care for her at home, rather than put her in an "institution."

While I personally would make the same choice all over again, thats not to say that we haven't struggled tremendously because of it. Our lives are FOREVER changed. I can't work anymore because she needs 24hr care. That in turn leaves my husband working countless hours. It affects our personal relationship in many ways. I am angry because I am "mom, nurse, doctor, advocate, chef, taxi driver, etc." He is angry because he just works all the time and although would like nothing more than to help out in the previously stated situations, he can't. We struggle to pay common household bills due to a lack of a second income and an unmanageable amount of medical expenses. Not just hospital bills, I still have to keep a household running while she is inpatient, but I have to pay 9.00/day for parking, $25.00/day at minimum so I am fed while there, gas back and forth to the hospital that is 100miles RT for appointments etc...My other kids now have to see a counselor because they are so afraid of their baby sister dying, or "Mom are you sure your going to get us off the bus today?? You promise" Then 3 o'clock rolls around and I'm not here, but there Grammie is...and they won't see mom for 2wks because we are back in the hospital...and no, they can't visit becasue of the new visiting policies due to swine flu.

This is not me "complaining" this is me explaining all of the things that having a "sick child" does to everyone in the family. I haven't even commented on all the pain that a 3yr old has dealt with in her life. The same 3yr old who is petrified of flashlights because that's what the nurses use in the middle of the night before they stick you with needles, or the same 3yr old who thinks of gloves and syringes as "toys"...and on and on... Not to mention the hours and hours spent on physical, occupational and speech therapy. The tears that start when you pull into the parking lot and she realizes where she is. This is just a start.

Now, there are many, many, many blessings that Brigitte has bestowed on us. Despite all of the heartache, my husband and I know that if we can get through this, we can get through anything. That old saying "that which doesn't break us, only makes us stronger"....very true. She has taught us that it isn't because there are DSi's and Ipods under the Christmas Tree, that we got all we wanted for Christmas, rather the fact that we were able to wake up and all 6 of us be under the same roof on Christmas is the biggest gift anyone could have received. Brigitte has a way of bringing family members who hadn't spoken in years, back together. She can walk into a room and EVERYONE is smiling. She has taught my other 3 children not to point and stare at the little boy in the wheelchair, rather to go and ask him if he wants to play.

So, in my mind this is not a question of whether you should/shouldn't have a child with special needs. It is a matter of preparing yourself for a lifetime commitent. One that will not only include the "normal" baby, kid, teen stuff...but all of that PLUS some. Are you a strong enough person emotionally to handle it? Is your husband/partner? Are your other children? Is it fair to the baby that you are bringing into this world? Now, we are supposed to be this very up and coming PC country, everyone love each other kind of place.....guess what?? Thats just not true. This world is still very bias. I am treated differently because we have "medicaid"...(its a supplemental insurance, we do have primary healthcare as well)...my daughter is stared/pointed at (not by kids, but parents)...my older kids don't get invited to parties/playdates because "umm, we might catch something"....other kids ask them "is your sister a retard?" Brigitte doesn't get invited to playdates or birthday parties either, lets face it, rolling her in, in her adaptive stroller and having to manipulate central lines, tube feeds etc. doesn't make you want to "bust out the balloons"...

On the other hand, the friends that I have managed to keep, or have made...now those are women that you can call a friend. We bend over backwards for each other. We don't talk behind each others back about what the other is wearing, in fact most days we celebrate if we are able to squeeze in a shower sometime during the day....if we're lucky, might even get to "do" our hair instead of throwing it up in a clip!!

So, while the rest of you sit around and point fingers at someone else for trying to make a decision on whether or not they should first test to see if their child is healthy or not...I empathize with that woman. She is doing what is right for her. Now, the question comes when you do find out that something is wrong. What do you do? There is no right or wrong answer. As PP said, 90% of people choose to not continue on with the pregnancy. I don't fault them for that. Maybe they just weren't strong enough. Don't say they should put the baby up for adoption...go to www.reecesrainbow.com People don't adopt these babies. Don't start on me about "well, I do" You know that you are in the minority and are to be applauded for that....but we all know that most people who are looking into adoption aren't actively seeking out children with special needs unless they have been impacted by a sibling, or another child.

The point is that whatever decision you make whether it is to test or not to test...to continue along with a pregnancy or not is completely individual. We all have different opinons on it...and we all have a right to those opinions...that is why we live in America, right?? If you want someone else to tell you what to do, then go live somewhere else.

Sorry if I was on my "soapbox"!! It just always seems that nobody is willing to talk about this stuff. I have a date with Mickey Mouse Clubhouse...and I should probably empty out my inbox, because I am SURE that there is going to be plenty said about this.

Your post is very realistic, and for those that don't understand, it's because they haven't lived it.

Take Care.

 

[ShannonMB]

I think it's wonderful that the new screens that have come out since I was pregnant with DD have improved in accuracy. And I still feel that having them is a deeply personal decision. That said, knowledge really is power.

I'm a NICU nurse in a children's hospital, and I really have seen it all. Most of the time when babies are born with life-threatening complications, the best outcomes happen when we get them in a matter of a couple hours and the docs know ahead of time (as much as possible) what they are dealing with.

We also have a program where parents of babies who will need NICU care after birth can come in and tour the unit and familiarize themselves with what to expect when their baby gets there. Parents who are informed in this way are a little more relaxed and better able to attend to their child's needs than the absolute panic-stricken parents who were expecting to take their healthy baby home in a couple days. Bless all parents who have to experience the NICU, because I really can't imagine anything more scary or heartbreaking except the loss of a child.

The screens aren't the end-all in prenatal testing, so I don't have a huge opinion about whether an individual should have them or not. But please (and I'm sure most people on this forum know this) get good prenatal care and find a Dr. you can trust and who understands your values. Not all medical professionals are out just to get your money or to make you abort your special needs child. Every one of them has seen something they wished they hadn't (I'm sure), and the vast majority of them want to help your family with the best possible outcome.

P.S. pnutallergy mom -- I applaud you for your bravery and honesty.

 

[KirstenB]

Pnutallergymom, your post is very well-written. As a matter of fact, it is so complete, I wish you could publish it internationally. As a teenager, I volunteered at a camp for kids with differing physical disabilities. I'd go home, exhausted but happy each day. I got to do mostly fun stuff with my camper, and try to push him/her. I only did this for a few hours a day, and like I said, it was the fun stuff, like swimming, and adaptive kickball, basketball, etc. Thanks for pointing out the 24/7 of dealing with a special needs child. I especially wish there were more services for the siblings.

 

[Rylee]

I'm a NICU nurse in a children's hospital, and I really have seen it all. Most of the time when babies are born with life-threatening complications, the best outcomes happen when we get them in a matter of a couple hours and the docs know ahead of time (as much as possible) what they are dealing with.

We also have a program where parents of babies who will need NICU care after birth can come in and tour the unit and familiarize themselves with what to expect when their baby gets there. Parents who are informed in this way are a little more relaxed and better able to attend to their child's needs than the absolute panic-stricken parents who were expecting to take their healthy baby home in a couple days. Bless all parents who have to experience the NICU, because I really can't imagine anything more scary or heartbreaking except the loss of a child.

And I can't thank you, and all the others, enough.

We knew, we prepared, we interviewed doctors, we toured the hospitals, labor and NICU, we made arrangements for our other 4 children, and yet...

We were scared, we felt completely alone, away from home and family, we missed our kids, but worst of all, we felt HELPLESS. We are the parents, I'm the mother, and I'm supposed to take care of my baby, I'm supposed to make it better, but I couldn't.

It was hard to let go, to hand my child over to complete strangers and to have him taken away in an ambulance minutes after delivery. We had to find a way to trust the care of our son, to others, since it was out of our control.

But because we knew ahead of time, we had the comfort of knowing we did the very best we could do, we had found one of the top doctors in the country, at one of the best hospitals.

And because of people like you, and his wonderful doctors, we have a beautiful 8 year old boy who is doing great! We will always be grateful for the care he has been given.

 

[Samar]

I had this done with my last DD. I had had 3 previous losses after DD #2 so it was more for just extra piece of mind. I think that may've been the only reason I was offered it since age-wise, I was not high risk for any other reason aside from RPL.

 

[amywhite11]

I'm 21 weeks with my third child. My DD1 is 4, and DD2 is 16 months. With my first two I said no to the DS screening and my doctor was fine with that. At the beginning of this pregnancy he tells me how there is a new DS screening that can be done at 12 weeks. As many have posted other DS testing has been filled with false/positives and I didn't want the stress, so I told him no. He looked shocked and tried to convince me to have it, yet when I asked why he didn't seem to know how to answer. He started with, well your 30 now...and I got mad and told him no again.

He also mentioned the new testing for Cystic Fibrosis. It's $3000 and most insurances will NOT pay for it. When I said no to that he excepted it with no problem. By now I was really upset...I too felt like he was pushing testing that insurance would pay for and it made me feel like all he saw was the money he would be paid.

If he would have given me the info that BreezysMom just posted I would have done it. Many PP have stated the more knowledge the better and I agree.

If this was my first child with him I would have switched Doctors. However he was wonderful with my other pregnancies and DD2 did have complications that were caught in her ultra sounds and handled perfectly.

OP it's your decision to make and now you have some more info about the test.

pnutallergymom your post was reality. You are an amazing mom with a wonderful family.

 

[FlightlessDuck]

Don't bother.

 

[sara74]

I did the nuchal fold testing with my youngest. It wasn't offered for my first two. It would not have changed my mind about loving and caring for my son if he came back with a high risk of Down's but it would have changed my preparation. There are lots of challenges associated with parenting a Down's child - starting with breastfeeding - and I would have wanted all the information I could get my hands on before the baby was born. I can't think of a worse time to be trying to gather tons of important information than when I was sleep deprived with a newborn!

 

[Monkey Monkey]

It always bothers me when I read all of these misconceptions about the 2nd trimester screening...like "if you're not going to terminate, there is no reason to have it done", and "there are too many false positives", and "I'd just spend the rest of my pregnancy worrying".

First of all, an expectant mom worries about everything. If I hadn't had the screening, I would have worried that my baby did have spina bifida or Down Syndrome anyway.

Second, try not to think of them as "false positives". There really is no such thing. It's a screening tool. An elevated risk isn't so much a positive as it is a reason one might opt for further investigation. Like one of the PPs said, a woman might have an elevated risk for Down Syndrome based on the AFP/quad screen, but her baby really has a different complication. It also can flag patients with placental issues that may not become apparent until later in the pregnancy.

With DS, my AFP came back 1:23 for Down Syndrome. I was 28 years old and had no family with chromosomal abnormalities. I had a level II ultrasound, which showed 2 soft markers, raising the risk to 1:11. I opted for the amnio, because I needed to know what we were dealing with. He does not have Down Syndrome, but I did develop severe preeclampsia (which goes hand-in-hand with placental malfunction) and had to deliver at 32 weeks.

With DD, I tested 1:16 for Down Syndrome. No soft markers this time, so I just knew that it meant I was destined for preeclampsia again, and I was. I developed it at 28 weeks and delivered at 34. Yup, I was worried during my pregnancy, but because of the preeclampsia risk.

On the flip side, I had a friend who waived the screening and whose baby was born with gastroschisis - her intestines on the outside of her body. Ultrasounds did not detect this until right before birth. The quad screen may have picked up on this. She spent most of her life in the hospital, and died at 9 months waiting for a multiple-organ transplant.

I know that the screening is not for everyone, but it irks me to no end when doctors and patients say things like "I would never terminate a pregnancy, so there is no reason for me to have the test." It's not a useless blood test.

 

[Earlylite16]

My younger daughter will be three in June...because of my age (will be 42 this year) and my husband's age (he will be 65 in 10 days) they did have us do the first trimester screening....our Ob/Gyn office does it will all pregnancies now...not just what they may think is high risk.....I did want as much info as possible especially because I have Psoratic Arthritis and Fibromyalgia and DD was very much a miracle but a month before I got pregnant with her, I was on a trial of a medication that does cause birth defects. Another couple that have been long time friend's of the family had a baby born one month after DD, because of their ages (under 30) their doctor did not do any testing and their child was born with Downs. I know they wouldn't have done anything to terminate but had no clue and I think that I would want to know just to be prepared and bacuse there are often available procedures for a fetus if surgery is needed etc.

 

[RachelsMommie]

Take the test. Please. I asked my ob/gyn why I should take it, knowing there is no way I would terminate a pregnancy. He gave me a great answer: so we can try to determine if I was having a specials needs child. It would give me time during the pregnancy to prepare and be ready, plus he said he would be able to arrange to have the best medical team there to deal with it if necessary.

 

[jodifla]

I did the nuchal fold testing with my youngest. It wasn't offered for my first two. It would not have changed my mind about loving and caring for my son if he came back with a high risk of Down's but it would have changed my preparation. There are lots of challenges associated with parenting a Down's child - starting with breastfeeding - and I would have wanted all the information I could get my hands on before the baby was born. I can't think of a worse time to be trying to gather tons of important information than when I was sleep deprived with a newborn!

Exactly!!!!!!!!!!!!!!!!

 

[rodeo65]

I was 35 with my first and it was suggested I have the test beause of my age. What I didn't know at the time was I would automatically show a % risk because of my age. The results came back 20% risk and suggested amniocentesis. When I went for the consult on that I was told my risk of miscarriage from the amnio proceedure was also 20%. Since we knew there was already a risk because I was an older first time mom and had accepted the possibility, we passed on amnio and DS was perfectly healthy.

For the second when I was 37 the same screening test was suggested and I said no since I already knew I'd show a risk and wouldn't be doing any more testing. At that time they did extra ultrasounds through the pregnancy focusing on the neck fold and heart.

My opinion is why cause yourself extra worry if you already know you will deal with any health issues that come up. There is enough to think about during pregnancy without adding extra "maybes"

Best of luck for a happy, healthy pregnancy!

Now I'll read the responses - I'm sure I've said nothing new, but felt strongly that I was subjected to unnecessary worry the first time around. If they'd told me that I'd automatically show a risk then I would never have bothered with the initial screening test.

 

[Zeebs]

pnutallergymom:

Thank you.

I had a whole other statement I wanted to add, but I can't word it so it portrays my thoughts and feelings relating to our third pregnancy. But your post made my reaction to our tests feel sooooo much better and has eased my guilt for feeling the way we were feeling.

Kirsten