I just received a phone call with the results to my genetic testing. I have a 1 in 170 chance of having a down syndrome baby. they say it translates to a 99.4% chance of not having a down syndrome baby. I can’t get past the 1 in 170 will give birth to a down syndrome child. I don’t know what to do. Amniocentesis? it has a 1 in 200 chance of miscarriage. I feel lost.
I am sorry that you are going through this. It’s a very difficult decision. A 99.4% chance that everything will be fine is extremely high! I am not sure if you are looking for advice on what to do and I definitely am not in a position to inform you. That being said, I would decide based on what you think you can handle. Personally, (and I really mean this to be my own personal decision and would never judge anyone on their own decisions) I would carry a pregnancy through regardless, so for me it would not make sense to get the amniocentesis test. Similarly to the baby having down’s syndrome, the risk of miscarriage associated with the test is quite low as well, so to me it really all comes down to whether you need to know definitively or not. Take good care.
I have just read the article about [name]Richard[/name] Wilkins a well known media personality here in Australia who at only 18 years of age became the father of a Downs Syndrome son. The son is around 40 now and [name]Richard[/name] and his other four children just love their son and brother and feel that he brings special blessings to their family.
rollo
Most likely they’ll be able to tell from a sonogram if the baby has Down Syndrome or not, so you won’t need to do an amnio. When I had the test done, my results came back as 1/72. They did a sonogram a few weeks later and were able to tell that my baby was fine (there are several Down Syndrome markers that they can see during a sonogram). It’s nerve wracking but odds are that your baby is fine.
This is our first baby and honestly, with our next baby, I’m not sure if I’m going to do the Down Syndrome test again. When my doctor called to tell me the results of the test, she said that she’d never had a patient with a positive test result actually have a Down Syndrome baby. The whole thing was just stressful and unless there’s a reason why your baby has a higher chance of being born with Down Syndrome (family history, high risk pregnancy), I’m not sure that it’s worth it.
I too had my test results come back with a 1/110 chance of downs syndrome with my first baby. I was so anxious too, and she turned out fine. I don’t think you have anything to worry about. You will probably be asked to have a level 2 ultrasound and they will look for markers for downs syndrome. They probably won’t find any and then they will change the probability (they didn’t find any for us and changed it to like 1/1000). There was no way I was going to have an amnio with those odds and risk a miscarriage. Especially since I would have carried and loved the baby regardless.
With our second baby I didn’t do any of the testing. I didn’t need to know odds of having a baby with possible special needs…especially since most of those tests don’t tell you definitely one way or the other…it’s just a bunch of probabilities which just cause unnecessary anxiety. [name]Even[/name] if your baby did have downs, that test would never be able to confirm it. (You’d have to have amnio done and risk a miscarriage to know for sure.) I had a much more enjoyable pregnancy and luckily my second was born healthy as well.
Hey
When my mum was pregnant with me they told her that there was close to 60 percent chance that I was going to he down syndrome (this was after doing amnio). Needles to say I am perfectly healthy.
First of all, congratulations! You’re having a baby!
Second of all, no matter what, you will not have a “Down syndrome baby”. [name]Even[/name] if your child is born with a 47th chromosome, they will HAVE Down syndrome. They will BE a daughter, a granddaughter, a friend, a person fully capable of an incredibly rewarding and fulfilled life. They will BE part of you and part of your husband. They will BE a human being, with strengths and weaknesses just like every other human being.
The National Down Syndrome Society is a great place to start your research (www.ndss.org). They have a new and expectant parents page. They can also put you in contact with families on their adoption waiting list (which is about three years long).
Confessions of the Chromosomally Enhanced is my favorite blog (confessionsofthechromosomallyenhanced.blogspot.com). The author’s older sister has Down syndrome. Her experience was so positive that she and her husband chose to adopt their first daughter, who also has Ds. From there you’ll find a lot of links to other blogs by parents with children who have Down syndrome, some adopted, some not. Interestingly enough, many parents who have a family member with Ds or one child with Ds choose to adopt another child with the same diagnosis.
I have to admit that I’m biased. I would love to have a child with Down syndrome, and I’m planning on adopting a child (or two!) who are lucky enough to have a 47th chromosome.
Also, it bears repeating: congratulations. Seriously. I can guarantee that whatever your child’s ultimate diagnosis, they will be beautiful, worthwhile, and amaze you every day.
Some more resources!
Dr. [name]Brian[/name] Skotko (www.brianskotko.com) is the leading medical expert on Down syndrome. He has a sister with Down syndrome. According to a survey he conducted, “99% of people with Down syndrome said they were happy with their lives and 97% of people with Down syndrome liked who they are” (you can see the rest of the results here: www.childrenshospital.org/newsroom/Site1339/mainpageS1339P766.html).
This is a great essay by a mother of a child with Down syndrome: mostlytruestuff.com
The International Down Syndrome Coalition for Life works towards an accurate representation of Down syndrome in the media and the medical community: www.idscforlife.org
This site (put together by a woman who adopted two little girls with Ds after her daughter was born with the condition) has a bunch of great information: downsyndromenewmama.blogspot.com
I am very, very, very pro-choice, by the way. You don’t have to be “pro-life” to acknowledge and celebrate the fact that a life with Down syndrome is a life worth living.
Here’s a blog about a mom to two children (one bio, one adopted) with Down Syndrome. Her first entry explains her emotions of finding out her daughter had downs: http://theblessingofverity.com/2010/02/day-one/
Great resources shared already. definitely educate yourself about what exactly Downs Syndrome means for your family and your child before you get too scared or nervous. Feeling anxious may just be a product of not having information about it.
Nameberry is obviously not the place to get, or give, medical advice.
That being said-- many previous posters were correct. After your initial quad screen, which recalculated your risk of Down Syndrome, you will receive a full anatomy scan a bit early. There are several sonographic markers of Down Sundrome-- but they are just that, markers only. If there is still some lingering doubt, and your risk remains much higher than your normal risk calculated by age, then you will be referred for mandatory genetic counseling regarding exactly what these numbers mean.
The only way to know for sure is to undergo amniocentesis, where some amniotic fluid is withdrawn from the uterus under image guidance (needle is far from baby); the cells are collected and a karyotype is performed where all of the chromosomes are examined. It is 100% accurate-- it’s impossible to have a false negative or a fals positive. The risk of miscarriage is routinely quoted at 1/300, or 0.3%, though with skilled hands its less.
[name]Even[/name] if you believe you would not terminate a pregnancy for Down Syndrome, you might still consider amniocentesis in order to prepare. In addition to setting expectations for family, selecting a name easy to pronounce/spell, etc some Downs kids have associated congenital problems necessitating surgery or hospitalization in the first few weeks of life.
Again, nameberry is not the place for medical advice. These are simply the facts- only you know how a number like 99.4% makes you feel, and only you know what you would like to do in the event of the diagnosis.
After much back and forth, my husband and I have decided to proceed with the amniocentesis. I can’t say for sure what direction we would take if this baby is proven to have downs syndrome. I cannot wait another 5 months to find out. I should have the procedure this week, with results by next.
Good luck. I’m glad you were able to organize your feelings and make a decision. Hoping you get 46 results…
Test results are in, and our baby is 100% healthy - no downs syndrome. That was the most stress filled 2 weeks of my life. I feel like I exhaled for the first time when I got the news. We also found out that we are having another baby Girl!
Congratulations! [name]Will[/name] you be posting on nameberry to get ideas for great names for her?
[name]Rollo[/name], I have already a few times. I’m feeling a little bit stuck with names right now, nothing seems to appeal to me. Maybe knowing it’s a girl will help.
congrats on the good news! that 99.4% was right on the money. 