Tuesday, January 02, 2007
Testing for Down syndrome - Do you want to know?
If you've recently visited the doctor's office, you may have walked out more confused than before you entered. It is true that with the number of detailed tests offered, you may get answers to questions you didn't even know you had. Often times, you are suddenly required to make decisions, big decisions, without a lot of time to think. Nowhere is that more true than when it comes to prenatal screening. And, now new guidelines issued by the American College of Obstetricians and Gynecologists will lead to even more tests, and possibly more questions.

The new recommendation is that all women, regardless of age, be offered screening for Down syndrome. As you may know, Down syndrome is a common birth defect, caused by three copies of the 21 chromosome, instead of the usual two. These children may be mentally delayed in addition to having heart defects. It is well known that older women are more likely to have a child with this defect. For example, a 25-year-old woman has roughly a 1/1,250 chance as compared with a 40-year-old woman, who has a 1/100 chance. The conventional wisdom was that a woman over 35 should be offered an amniocentesis - placement of a needle into the amniotic sac and removal of amniotic fluid for testing. Unfortunately, that test carries a slight risk of miscarriage. Nowadays, non-invasive screening is available that involves testing the woman's blood and performing an ultrasound. In the first trimester of pregnancy, it can tell with more than 90 percent accuracy whether a child has Down syndrome. There is no additional risk of miscarriage, and the costs are fairly reasonable.

The question, though, for many young parents is, "Do we really want to know?" A certain percentage of parents may choose to terminate the pregnancy. Others may choose to immediately establish tax-free health savings accounts to help pay for the health costs of the child. Others may choose to have the child delivered in a hospital that specializes in high risk pregnancies. Many parents are just curious. But, is it worthwhile to know? Do you agree with the new recommendations put forth? Do you think this will reinvigorate the abortion debate?
No I would not want to know. I believe that we are given the children that we are supposed to have. There are not normal or better children just children and all humans bring issues, different but all the same issues. To say that I want to keep this baby but not another is AWFUL I feel.
I refused a amniocentesis with my twin boy's pregnancy, just because I knew there was a higher risk of miscarriage for women who carry more than one child. My thoughts on this was--they are my babies and I'm going to love them no matter what, even if they have birth defects. So I told my doctor I'm not going to take the test, I don't want to risk losing one of my children. We got lucky everything turned out fine for my kids.

Oh and by the way Dr. Gupta. My husband and I was in Time Square for the New York New Years celebration and the one the most awesome things I saw was a big giant billboard picture of you in Time Square. I just had to post it on the internet too--to me that should just show you how famous and popular you are becoming, and dear Dr. Gupta you looked marvelous up there.

Your fan
Ann
I'd want to know, just to prepare financially, intellectually and emotionally (and also help family members prepare). But too often, people abort their Down Syndrome babies, and IMHO that is a horrible tragedy. I've had coworkers with Down Syndrome over the years, and Down Syndrome is by no means worthy of a death sentance. These folks can and do live happy, fulfilled, productive lives. But many are being killed via abortion because they aren't "perfect." Who's perfect? None of my kids are perfect, though none of them have Down's. If we just aborted every baby who wasn't perfect, we'd wipe out the human race in short order.
Yes, definitely I would want to know. If it were not "normal" I would terminate. It is a stand I have stood by before and after my two kids, and yes I had them "tested" and my husband and I would have terminated them. We both feel very strongly in this area.
I found out when I was 5 months pregnant that I was carrying a Down's Syndrome child - I chose to carry her full-term and never regret one moment of that decision - I have had no major problems with her at all and she's the best thing that ever happened to me - they are very normal children and too many mothers opt to abort them because of lack of knowledge; the child may be the best thing that every happened to you - please don't rush an abortion.
I have 2 healthy kids and had amnios for both kids since I was 36 yrs old and 38yrs old when I was pregnant with them. I was very nervous getting the amnios as I knew there was a risk of losing the fetus. But I went to an excellent facility with an ob/gyn who was very skilled and experienced in doing amnios. I had no complications after the procedure and when the hospital called me a week later with the good results, I had peace of mind. And yes, I would of terminated the pregnancies if necessary.
We had the fortune of having a Down's child. Being 43 when the baby was due, I was offered 3-D ultrasound to screen for it. My husband decided that since we would NEVER consider death for one of our children, 'normal' or not, we would not do the screening either. The only benefit that I can see in hindsight is that we could have better prepared the grandparents and been more aware of possible heart problems. Fortunately, he was born with NO heart abnormalities, and my parents were there when he was born and had already fallen in love with him before the diagnosis. It has made his 10 older brothers and sisters love him more, I think. I wouldn't want to know beforehand, personally, except for maybe having more alert to possible physical problems. The biggest problem with 'knowing' is that SO many people abort these beautiful children before they ever have a chance to meet and love them. That's TOO BAD!!! In many ways, Down's children are more 'normal' than what we call normal. They are exceptionally happy and loving. Too bad that many never have a chance at what we call life.
I had this new test done two weeks ago because I wasn't fully aware of what the 90% accuracy rate meant. I figured since my insurance covered it, it's my first baby and I am over 35 - better to be prepared than not. Having a Down's baby wouldn't change our decision to have the baby or not. Now that after doing some research and talking to others, I wouldn't recommend having this test done as it will cause you more worry than answers. My words of advice is this... if you are going to change the outcome of your pregnancy based on the knowledge that this child has Down's Syndrome then go for the tests that are 100% accurate - amnio or the CVS. My ultrasound came back abnormal for the NT measurement, normal for the Nasal Bone and I have not received my blood work back to receive my "Probability Scale" on whether my baby on a scale of 1 to ??? might/could/possibly be a Down's baby. So when they say it's 90% accurate on whether the baby has Down's they really aren't telling you the truth. The only thing that they can tell you is that based on your test results, age and family history 1 birth out of ??? resulted in a Down Syndrome baby. I don't call that very accurate.
I am 28 years old, and currently 28 weeks pregnant. I was offered the Down Syndrome test earlier in my pregnancy.

I declined the test because 1) I am low risk; 2) I knew it wouldn't matter if my child was born imperfect and 3) the risks involved were not worth it to me.

I can see why many would want to know; to prepare their families for the financial implications involved as well as gaining a better understanding of what Down Syndrome is and how to become better parents of a child born into it.

I am not casting stones, but to learn so one can abort the child is pretty extreme in my book.

Knowledge, at times, is a two-edge sword.
My husband and I would both want to know and yes I would terminate.
The testing itself is not hard; what is hard is the waiting time before you know the results. As an expectant mother, you learn so much about yourself and about what life really means to you; I got closer to God while waiting for the result hoping for a negative result, but preparing myself for becoming a mom of a kid with special needs. I was afraid about what would happen to me, to the future that I envisioning for this kid. Yes, I am selfish, I needed to know. That happen long time ago and every time I see my son, I thank God for his blessing. A child, sick or not, brings a new perspective and a lot of love. However, if you go through the testing, expect it to be the source of a lot of personal stress, even if you plan to keep the child no matter what.
As a newly-pregnant woman, I decided to give genetic testing a shot on a whim. I just learned that I'm a cystic fibrosis carrier (thankfully, my husband is not). Prompted by what I learned from the CF screening, I just scheduled my first trimester screening for Downs. My understanding is that this in and of itself poses no risk to the fetus, but if a CVS or amnio are needed, they do have a small risk of miscarriage.

At rate, while I don't want to know everything about my baby (like the sex), I do want to know about his or her health. I think I need to be mentally prepared in advance of the birth for any problems.

It is easy, however, to get lost in a black hole of seemingly endless testing, because you can test for so many things these days. So while I agree with the Downs recommendation, my advice to women is to enjoy your pregnancy and not spend the whole time stressing about test results.
I recently had these screenings done. I wanted to know (to better prepare myself, not to terminate) but decided I would only have an amnio if the screenings found something alarming. The screenings found absolutely no cause for alarm, which was incredibly reassuring to me and I didn't have to put my baby at risk at all to get that reassurance. Even though I'm 36, my doctors pushed amnio more than the screenings. I think it is a good idea to get the word out on these screenings. Having options is a good thing.
We did the 1st trimester test with our first pregancy and had a positive screen with a 1:77 chance of the baby having Down's. We did the amnio and two days later I got the results that he was a genetically normal boy. Moments later I started leaking my amniotic fluid...which never came back. Our baby had other issues as well (parts of his brain never developed) and we terminated out very wanted baby at 22 weeks. It was the hardest thing I have had to do in my life.
This time I am 16 weeks pregnant and both the 1st trimester screen and Quad screen have come back normal. 1:5000 chance of Downs and Trisomy 18. We are not doing an amnio because of our history. These tests (while nervewracking) have helped me to relax a bit. I know nothing is for sure. I will be 37 when this baby is born in June.
I am 27 years old and 12 weeks pregnant. I asked for this test, but my insurance (Blue Cross PPO) will not cover it because I don't have the risk factors like age and family history of chromosomal problems. I am sure that this new study will prompt doctors and insurance companies to make this test standard. As a first-time pregnant woman, I am paranoid and would like to have every test available.
I was strongly encouraged to get an amnio when I was pregnant with my son because I was 41. I chose not to because it wouldn't have made any difference in our decisions and I was afraid of miscarriage. As it turns out, my son does have Down Syndrome. If I had know, I wouldn't have enjoyed my otherwise easy second pregnancy. My only regret is that society views these children as disposable. A surprising number of medical professionals openly demonstrate a bias against my son, who has no major health issues. I worry what will happen to him when I die because I am afraid that he will not get good medical care without someone to act as a vigorous advocate for the same treatment as a normal person. Almost all people with Down Syndrome will learn to read, do the basic math to keep up with finances, and be able to hold down jobs when they grow up if someone gives them a chance. My son will eventually do all of the things other children do, it will just take longer.

I would like to see an amendment to the US Constitution that protects families from being pressured to abort and that guarantees the civil rights of the developmentally and physically disabled, particularly with regards to education and health care rights. I fear that the availability of this new test and others to come will usher in a new era of eugenics.
I have a daughter with Down syndrome, and I didn't have an amnio when I was pregnant with her, because Down syndrome is not reason enough for termination. I'm pro-choice, but this disability simply should not be reason enough to terminate. These children who are born with DS generally are loving, happy, and friendly people and they make an incredible difference in our world. They don't concentrate on perfection as most others do, and they are quite content; the simplest things make them happy. We have a heck of a lot to learn from them all.

That's why the latest news released from the American College of Obstetricians and Gynocologists enraged me. First of all, I'm all for a woman's choice. But when the college defined Down syndrome as a birth defect that "causes mental retardation, a characteristic broad, flat face and small head and, often, serious heart defects", I assume that these people want to induce fear into women and promote termination over than listing the FACTS about Down syndrome in general. My daughter has no mental retardation and is "high-functioning". She is a smart and inquisitive little girl, did not have heart issues and is relatively healthy. But if you ask these people at the college, the mere definition is to assume that it's a horrible birth defect. I want to see that all the facts are given to pregnant women, including awareness, inclusion, acceptance and how wonderful these people can be before they decide whether to terminate or not. Doctors are not giving all the facts, only negative possibilities. Consider that when making this ultimate decision.

If I become pregnant again, I won't be asking for these ridiculous screening "urged for all pregnant women". If it's a choice, then it should not be URGED, period.
My aunt was born with down syndrome and I could not imagine my life without her. Granted she is a high functioning individual but I think much of that has come from the family's involvement throughout the years. I remember growning up asking my mother why my aunt who was considerably older than I was into all of the same things as I. She just reached a certain age level and then basically stopped growing up. That's all that she could comprehend.

With all of our love and family effort, my aunt learned basic reading skills, learned how to keep house, finances and eventually, as my grandmother grew older, was able to move out onto her own.

In this day and age where parents are sticking helmets on their children's heads because their skulls aren't perfectly round and other choosing the sex of their children, I become more and more frustrated with people striving for perfection. But what is perfect??

I think we all need to step back and embrace everyone around us including those that by society's norms are less than perfect because we all have something unique to contribute. We can all stand to learn from others as my aunt taught me understanding, patience and tolerance just because she was labeled different.

I honestly respect people's decisions to choose pregnancy or termination because this is their future at hand but if the government starts testing and aborting because of Downe Syndrome, what's next? Brown eyes, male vs. female or potential yet still dormant diseases?

She may not be perfect to societal's norms but my aunt is a loving, caring individual and my good friend...my aunt.
As a genetic counselor, I work with women and couples who have undergone various types of genetic screening tests or diagnostic tests during pregnancy. Many patients referred to our practice indicate that they do not want genetic counseling because they already decided not to have invasive testing such as an amniocentesis. However, the purpose of a prenatal genetic counseling session is not to perform testing, but rather to educate the patient about the available testing and to answer any questions the patient may have. Our profession is dedicated to helping educate patients and to supporting their decisions regarding testing and various medical interventions. In order for patients to be informed consumers, they must be educated about the options available to them and then be given the opportunity to make autonomous decisions regarding the appropriateness of testing in their pregnancies. As more testing options become available, more efforts need to be made to educate patients about benefits, risks, and limitations of different testing methods prior to performing such tests. Patients can take an active role in this process by asking their health care providers for information about the available tests.
I lost my ability to have children at age 30 due to endometriosis. While I am strongly pro-choice, I would love to have had a child regardless of DS. I also would have wanted to know prior to the child's birth if there was a problem so I could gather information and network with other parents sharing similar experiences.
I don't agree with the test for the simple fact that there are a lot of false positives. I would suggest couples to have a genetic ultra sound instead. They are more accurate. All the test did for me is cause a lot of uneeded stress for no reason.
Good God, Yes, an woman should be told that tests available to determine if the child she is carring has a chance of having Down Syndrome.
My grandmother had a child with Down sindrome.Which is the risk for me to have a child with this disease?Can you tell me what kind of tests should I have before having a child?I'm 26 years old.
Ofcourse I would want to know if my child has Down Syndrome. Also, I would like to have the most accurate information as early as possible in order to make the most educated decision....
I would never kill a baby so I wouldn't want to know. I will love whatever is given to me for whatever time it is given to me.
The question is not so much how would raising a Down Syndrome child affect the parents, but under what conditions will this child live when the parents are no longer alive?

If they are older and not extremely wealthy, this is a real concern. If they are young, they might well have other children, but what if they don't? If they do, is it fair to saddle them with responsibility for an older, DS sibling? Will they be "produiced" in order to care for the DS child later in life? What if they resnt this or are simply irresponsible?

There are many questions raised by this issue and as long as abortion is made so difficult to obtain in this country, or banned altogether, I see little point in knowing.
As part of my Therapeutic Recreation class at college last fall, I worked with some continuing education students who have Down's Syndrome. What makes me mad is how these folks get picked on and are not seen as human. They're human like you and me. I don't plan on having any kids, but if I did, I would not do the test because I would love my kid no matter what. We need to accept people who have Down's Syndrome for who they are.
I had my first child when I was 28 years old, and fortunately for me she was a healthy baby with Down Syndrome. Although born alittle early with weighing in at only 3lbs 15 oz we were very lucky, she did not have any eating or breathing issues so three days later we all went home.

We found out when going in for a routine weight check up when she was 6 days old that she has Down Syndrome. I had the prenatal tests and they all said it was negative. Yes, we were shocked and yes, there is a process of acceptance that we went through, but it did not change how much love you have for your baby.

I can not say that I would have wanted to know while pregnant because I don't think anyone can make that call without have gone through it. We would have been better prepared, but then I fear we would have focused more on the Down Syndrome than just the fact we were having our first baby. Each situation is very individual.

I think if you know you can not care for a child with Down Syndrome and your plan would be to abort, that is still your choice, but you are missing out on what is likely the best part of your life. There are people that are willing to adopt kids with special needs, so look to that path first.

No test is perfect, and my results came out that my chances were 1/800 to have a baby with Down Syndrome we were told that it meant negative. Looking back now I realize that I got my 1 out of million baby that I always wanted, but never knew it until the first time I saw her beautiful face!!!
I was 32 when pregnant with my twins. When the doctor offered to do Amnio on me - we refused instinctively. However when we thought abt it - we decided to go for it. I knew I would never abort bit still wanted to know so I was prepared for what was to come. To me it was like knowing if I was having a boy or a girl so I could buy blue or pink - if you are prepared for what is comming - U can handle it better.
I would definitely have the test performed in the eventuality that my wife became pregnant. Whether your intention is to merely be informed (for planning purposes), or to use this information to assist in the decision to terminate the pregnancy, having the knowledge beforehand would prove invaluable.

My father was stricken with Multiple Sclerosis a year after I was born. I never had the ´┐Żnormal´┐Ż childhood that my friends did. My parents loved me, but there was a part of my childhood that I missed out on. My father died when I was 24. I always wanted to have children and be able to give them the experiences that I missed out on.

The fact is, that unless you die prematurely, you will outlive your Down Syndrome (DS) children. Parents are not meant to outlive their children. I do not want to have to repeat the process I had with my father. All I would like is a healthy child. Baring that, I would choose to terminate the pregnancy and either try again, adopt, or to remain childless. The parents that currently have DS children and those that are pregnant with DS children (and make the decision to carry to term) are amazing. You are much stronger people than I am. There is only so much pain and loss a person can endure in their life and I reached my limit many years ago.
Our Granddaughter was born with downs 7 years ago this month. Her mother was 26 at the time and saw no reason for the test. Emma is now in kindergarden and doing wonderful. She has added a dimension to our lives that is impossible to put in to words. Her exsistance ,although not without challenges,has enriched our lives immensly .We urge parents who test positively for this condition to educate yourselves . This can be a profound addition to your family!
I disagree with the new recommendations put forth because there is already sufficient prenatal testing available to detect Down syndrome. The only thing THIS prenatal testing accomplishes is testing sooner in the pregnancy and the absolute only reason one would need this at all is to schedule a more convenient termination. Prenatal testing done to this point already provides all the information necessary in a timely manner for parents to prepare for the birth of their child with a diagnosis while at the same time providing the "cure" for Down syndrome, termination of course, for more than 80% of the rest of the diagnosed pregnancies. Isn't that enough? Why is society so bent on wiping out Down syndrome in this way? I have 7-year-old twins, one with Down syndrome, and they both participate in and enjoy life very much. I do not understand why a diagnosis of Down syndrome is so horrendous that it should be a death sentence. Usually when a diagnosis is made, medical professionals actually try to treat the individual and not terminate them. Hey, there's a concept! Instead of spending money on the research and prenatal testing, why don't they put it toward finding an ACTUAL cure for Down syndrome instead of just terminating the babies who carry the diagnosis?
I found out at 4 months pregnant that my daughter would be born with DS and some very severe heart defects. I used the remainder of my pregnancy to educate myself, and gave birth to a beautiful baby girl. She is now 7 yrs old, reading at age level, playing with typical peers, speaking, learning, and is definately the love of my life. She now has 2 other siblings with DS...adopted from Hong Kong and Guatemala. We couldn't imagine our family without any of them.
Their older siblings adore them and my husband is a very proud daddy. People who abort these children are throwing away the most precious gift they could possibly be blessed with.
Debbie Sherman, Author, www.jenessasjourney.com
I refused both the CVS and amnio with my first born. I was 27 when i had him and no history of genetic defects. He's a healthy 4 year old, now.

Last year i had a devastating pregnancy loss at 20 weeks. At 18 weeks pregancy, the baby was diagnosed with a rare brain abnormality with very poor prognosis (through an ultrasound). We did an amnio on the spot and were told that there were no genetic abnormalities. Further testing with a fetal MRI revealed more damage and virtually no brain matter. We decided to terminate this much wanted baby. It was the hardest thing that we'd ever done in our lives but knew we had to do it since this baby would have had no quality of life.

I am definitely for these prenatal tests as they prepare you for what's ahead. We are talking of another baby now and one thing that we're very sure about is that we will definitely have all the prenatal tests. We're not looking for a "perfect" baby. Just one that will have a normal life.

Kudos to those parents who decide to have their baby no matter what. I thought i belonged to that group too until my last pregnancy.
We've just our scan on Saturday (14th may)showing a lack of nasal bone in our baby. My wife is 41, I am 42. We live in Singapore.

Although fairly developed and advanced, Singapore does not offer a comprehensive insurance scheme or strong educational support for such children. We are a faimly of limited means and will not be able to support a Down's child.

Our amnio test is scheduled for the 25th of May. Should the test confirm a positive result for Down's or other serious genetic disorders, we shall, regretably, terminate the pregnancy.

Many of the comments here affirm a position to keep the child no matter what. I would just like to add my comments so those who are contemplating termination be comforted in the knowledge that this is a personal choice and there are no right or wrong answers to these decisions.

Do pray for my wife. We are hoping for the best and bracing ourselves for the worst.

With sincere thanks..
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