I had a maternal serrum test done and was told that I'm risk for having a baby with DS. They said its 1 out of 207 chances. I have to go in for a comprehensive Ultrasound and an Amnio on the 6th of July. My husband and I have already decided that this baby is a blessing and was sent to us for a reason but we are scared. We dont know if our chances are high or low and we want to be prepared so that we can give this child the best life possible. Does anyone have any advice for us PLEASE HELP. My doctor is on vacation till my appointment so I cant call and talk to him about this. I need to set my mind at ease and at this point I'm a nervous wreck.
First let me say, congratulations on expecting. Second, I want to applaud you for wanting to give your baby the best life possible, no matter what the results. I think, no matter what your results end up being, it's all win-win. While the prospect of having a child with Ds is and can be very scary and down right overwhelming, there is so much that is out there and available to help you understand and assist you. More importantly, there is much that needs to be said in the area of understanding more about Ds. Primarily with "Early Intervention" therapies designed to assist your baby - child meet milestones and other developmental areas. If your baby should get a diagnosis of Ds, their development will assisted if needed.
Your odds are not as "bad" as you think. While they are elevated for your age, if you think of the percentage, it's still less than 1%. 1:100 is 1% risk. Anyone and everyone is at risk for having a baby with Ds. Not just families who have Ds in them. There are different types of Down syndrome, and 95% of the cases are random. Meaning, at conception, the 21st chromosome doesn't pair as it should, and the baby gets three copies. Thus the name Trisomy 21 or Down syndrome. (The other types of Ds are called Translocation and Mosaic which only account for the other 5% - you can read more about those types in my blog or references.)
I chose to do the Amnio because I needed to know so I could prepare if the results were not typical. I had no elevated risks, or any markers or testing at that point that suggested I needed to do it but I had just turned 35. My odds were 1:385. We were that "blessed #1.
Here is something I posted before:
I am one of those (I would now say so very lucky moms) who had a normal level two ultrasound and NT scan and had an Amnio only because of my age of 35, and learned quite by surprise that we were having a baby with Ds. I too have no family history on either side - so it was really a surprise. But I too, (both Dad and I) knew we wouldn't terminate, but as a person who needed to know, I knew I would be able to use that time to be able to prepare, learn and organize everything from medical exams, medical preparedness at birth and also organize "early intervention" which here in our location had an eight month waiting list.
I had my Amnio at 16 weeks and just a week and a half later, learned that I was the 1:385.
It is important for me to express, how "typical" our son has been. He was like any other baby after birth, care was the same but we did have appointments in the beginning, that dealt specifically with Down syndrome. Because there are so many developments in the Interventions area, our son has benefited and has met his milestones. Most often, delays with gross motor skills like walking or crawling are affected because of something called "Hypotonia" or low muscle tone.
Back to the Amniocentesis, it is completely a decision that is up to you, and no matter what you decide, be comfortable in the decision you make. Do not let anyone push or sway you in one direction or the other. Some will try and tell you, you mustn't do it, other will tell you you should. What I tell moms is, yes there are risks. The risk is an additional 0.5% of loss added to the normal loss percentage. You have to consider, are you at any additional loss risk for miscarriage? Does the benefit out weigh the risk? For me it did. The benefits for me were wonderful, and I am (to this day) extremely glad we did, and were able to prepare not only ourselves, but our family and friends - who love this little boy like he is their own! As well, I'd like to mention, there are other diagnostic tests which can help to assess whether there are more risks of having a baby with Ds. But, you have to remember, when it isn't a definitive type of test (like an Amnio) those results will be possibilities, not actualities. Some people are okay with that.
Some people who wait until birth to find out (who said that they would prepare and learn everything they could) still do go through the "grieving" process when they learn their baby has Ds. No matter when you learn about it, there is always that shock factor. The difference for people who get an amnio and find out, is that the shock factor occurs very early on, and there is time to adjust, grieve the loss of the "normal" child and then move on. While the same process happens without an amnio, the process of "grief" is longer, simply because you don't have the personal time to really grieve if you need to, because you have to think about your baby. Doing it for me before hand, gave me the time and "Individual" time to be sad, mad, happy and whatever I first felt, without feeling guilty that there was someone else to look after. It was "me" time. I counsel parents of Ds diagnosis before birth and after. And one thing I have learned is, (purely by experience and statistic) the parents who had prenatal diagnosis were much better able to deal with the result, and also were more comfortable in the end. The parents who learned at birth, never seemed to get the chance to express their feelings properly, or to get the comfort or support for themselves, because they now had their little one to take care of, and it seems to me, they never took care of their own selves or emotions.
This is a personal observation as well as a professional one that my friend in Early Intervention sees daily as well as the genetics counsellors tell me.
So there are a lot of reasons - for both sides why it is good to do it and not to. What I hope I have provided you with is the "real" and factual reasons of both sides.
If you are interested in seeing what it may be like to have a child with Down syndrome, I have a blog that I update nearly daily. I invite you to take the time to look at it.
Also, some more info I wrote:
I would say, take a look at my resources on our group Down syndrome forum (should be the second post down), and after that, if you have visited my blog (http://welcometoourhouse-my-journal.blogspot.com) you can see some further resources listed down the right side of my blog. In there, I list websites and really important books that you can take a look at. Since you don't know for sure, I would definitely suggest you borrow the books from the library - but having said that, they may not carry the books that I have listed. The single most important book that has been our "bible" so to speak is called "Babies with Down syndrome 0-5 years - A New Parents' Guide" 3 Rev Edition written by Susan Skallerup. It is the most descriptive, and positive book regarding Ds, that will certainly prepare you for pretty well any thing that has to do with Ds. We were given that book by our Genetics Doctor, when we learned of Hunter's Diagnosis prenatally from an Amniocentesis. That book armed us with all kinds of excellent medical, schooling, therapy and whatever other info you will need to know that you would not have normally known about. It also has additional resources in the back of the book. As far as support groups go, if you are looking for groups that meet, it depends on where you are located. If you are in Canada, I can suggest some. In the States, just tell me where you are located and I can get you some support groups from my Ds association, (they usually have the names and locations of groups world wide.)
I put together a group locally and have become the program coordinator/leader for a special needs support group, here in the Toronto area. It is being run at the YMCA - ONTARIO EARLY YEARS CENTRE (which our province funds for babies 0-6 years old - for free.) I am not too sure if such groups exist in the States, just in case you are located in the USA. --- Cont. in next post below:
One thing I would suggest is see if your doctor will get you a requisition for a 3D-4D ultrasound (usually for high-risk pregnancies) - if you are not having an Amniocentesis or other screening tests, I would suggest the High level ultrasounds to check for specific Ds markers. The technicians know all about doing this. They can look for soft markers in your baby, and this can tell you a lot. While it certainly wont confirm a Dx (Diagnosis) it can really prepare you more, if you find there are a lot of markers present. I have a more complete list of "soft markers" that I can send you via private message if you wish. Some of the markers are, EIF (Echogenic Intracardiac Focus) - in plain English, A bright spot seen in the heart. Only a marker, and not a heath or medical issue. A curved inward pinkie finger, a gap between the first and second toes, called Sandal toe, Fetal Pyelectasis (this is where there the renal pelvic area is dilated - but most times corrects itself in utero. Our son had this, but it disappeared like the document suggests... http://www.obfocus.com/high-risk/birthdefects/pyelectasis.htm ). Nuchal translucency measurement or NT scan (The fetal measurement at the back of the neck that can determine the risk for chromosomal abnormalities like Ds - usually done at 10-14 weeks prenatally via ultrasound.) The list goes on and on. None of these markers are life threatening, but can give doctors odds on your having a baby with Ds. The major give aways tend to be if they discover a heart defect, (most often a hole in the chambers of the heart), but having said that, they did not see this in Hunter at all, until after birth! And also, having a heart defect is one of the most common genetic birth defects, and doesn't mean that Ds is a factor. It can be quite nerve wracking, since independently any of these markers can mean absolutely nothing, but the more there are present, the risk for Ds increases. You may know some or all of this already, or I may be making you absolutely crazy. Please remember, all of this information I have gathered over my entire pregnancy and after Hunter's birth, and I have done so much research I could probably teach about Ds, as the doctors tell me!
There are so many areas we could discuss, and many of them may not even apply to you! How far along in your pregnancy are you? What kind of prenatal testing have you done to this point?
Please let me know if there is anything else I can tell you, or if you wish for me to add more information. I am at your disposal!
I want to make sure you know that there is so much out there that is positive and helpful about Down syndrome. I want to put your mind at ease, to also let you know that when I was told having a baby with Ds will be just like caring for any other baby, they were right. There were a few more appointments, and there were things that I knew to look out for, but all in all, caring for my son Hunter has been wonderful. Please, visit my blog. You will get a much clearer picture of what life is like, and I have to say - it's pretty typical.
I always suggest you speak with a Genetics Counsellor to help you make these/any decisions. And if you do decide to do your amnio, know that you will be afforded the ability to #1. Know absolutely what the results are. (99% accuracy with a 1% fail rate which is left for the possibility of mix-up of paper work or testing the maternal cells as opposed to the fetus.) It is a definitive test. #2. be able to prepare and adjust before your bundle arrives, something many mom's and dad's who don't learn the Dx until after birth are not able to do until after birth. #3. Make the necessary preparations medically for your baby if it's necessary and also get on Early Intervention lists ahead of time because some places have long waiting lists. #4. Get the support and advice while you are able to do so, without having to worry about additionally caring for a newborn baby.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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