Positive Quad Reading

My son Ethan is healthy and smart too. He also has Down Syndrome (it's not Down's guys. That drives parents crazy) OK, so right now he has a cold and a fever of 101. Anybody elses kid sick? And he is developmentally delayed, but his Kindgergarten teacher says there are all kinds of smart and HE, is smart. We chose not to do any tests. So glad I did. I would have worried too, and that really is awful. We miscarried twice before Ethan, and worrying about losing another one was enough. Was it scary news, yes, but has it been awful-not all all. If you do get tested, please have good counseling before you make any decisions. 3-21 is World Down Syndrome day. Let's Celebrate their lives well worth living!

The quad test is made to catch absolutely all positive results, so there are a lot of false positives to allow for a margin of error. I know it's easier said than done, but try not to worry too much. You'll find out more at the ultrasound.

I also had a positive quad, did the ultrasound which indicated reduced odds and then an amnio which confirmed no chromosomal abnormality. When you have the ultrasound they will probably talk to you about the results and explain what they mean. Ask lots of questions if they don't.

The waiting is hard, but we decided the testing was the best decision for us because we wanted to be prepared mentally and have time to do research and be informed, etc depending on the outcome.

With our first baby we were told there was a 1:60 chance of Down Syndrome. That was determined by the blood work. We also had an ultra sound at the same time that did not show an increased risk. We chose not to have an amnio done because there is a very slight risk of miscarriage and we had just had a miscarriage scare. We had a more detailed ultrasound later that also showed no increased chance, but we didn't know for sure. One thing that helped me get through it was something our genetics counselor said. A 1:60 chance means that if you had 60 babies, one might have Down Syndrome. Did we do anything different? Not really. Made sure we chose a daycare that would take special needs babies, checked to be sure our insurance would cover things, read a book written by the mom of a boy with Down Syndrome, prayed a little more for wisdom in my parenting and for hope. Our daughter did not have Down Syndrome, but even if she had, it would not have changed how much we loved our baby girl. I have worked with people with Down Syndrome of all ages. They are some of the most amazing people I know and every one of them has made a positive impact on my life.

I had those tests when I was 40 and pregnant - my Dr. told me that the quad screen comes back "false positive more than 50% of the time". Since I was having other issues - she was SURE that mine would be positive because among other things - I had a "twin demise". She was so shocked that it came back negative that she had them run it again - as a single pregnancy - and again as a twin pregnancy. I opted NOT to have the the amnio - as there was a 1 in 40 chance of spontaneous miscarriage - and we decided that we wouldn't terminate the pregnancy anyway so it wasn't worth finding out for us. As my genetic counselor and perinatoligist told me - birth and checking the baby in person will be the only true test. Try not to be stressed - I know it's hard. Pray, and talk to the baby and be calm - stress is bad for everyone, and it's in God's hands now. Good luck!

I think the test comes back pos for anyone over 35. I am 39 years old and decided not to do any testing becides the regular u/s at my ob office. I now have a healthy 3 week old.

Hi M., I too had a positive Quad reading with a 1:4 chance of spina bifida or other defects. It was the scariest 2 weeks of my life waiting for my level II ultrasound. The good news is that everything looks fine. These tests are not positive or negative for the disease, but can show likely hood in percentages that have to do with many factors. Try very hard to remain calm and optimistic. I was speaking to my friends wife who works at an OBGYN office. She said that they have positive Quad screenings every day and in the 5 years working there only recalls one instance of there being an actual birth defect detected by this test. I wish I would have know that while I was waiting to be seen. Best of luck. keep us posted.

I officially hate this test. I had the same test done on my last pregnancy and worried for months only for it to come back negative with the ultrasound. I have a friend who is pregnant and same thing came back positive with actual results be negative.Proven by ultrasound. I do not think this test is effective and only needlessly worries pregnant women.While I do hope that your case turns out to be the same the only thing you should be worried about is whether or not you will be able to love this child regardless.

Your doc likely has to run these tests to keep her insurance. Given your <cough> advanced maternal age, a lot of insurance companies require the additional tests. That is what my doc explained to me when he made me go thru them.

On to the quad test. It is obviously not fool proof and there are a lot of "false positives". I doubt they would have been able to see much on the 1st u/s given that you weren't very far along then. I know it is hard not to focus on the negative but try not to stress too much, for yours and the baby's sake. I had a much higher number with my 1st pregnancy and my DD is a happy, healthy 5 year old. Hang in there and best of luck for a continued happy, healthy, relatively stress free pregnancy!

It seems like you have enough convincing evidence, but you are going to worry a little anyway until your baby is born, because that is what we do. There's probably more chance that stress and worry will affect your baby's prenatal development than it having Down Syndrome! I was told I had a 1 in 35 chance of my first having Down Syndrome based on the results of my quad (or triple) test. I was a little nervous because my nephew has Down Syndrome, though it is attributed to the mother and not my brother. However, the test wasn't even designed to detect Down Syndrome, but Trisomy 18 and other genetic and chromosomal deficiencies (Down Syndrome is caused by an extra chromosome). There were just trends found when comparing results to babies having other genetic abnormalities so the belief that the test could actually detect things like Down Syndrome was born. Even if it weren't, your chance is still very small.

Don't worry! That's over 99% chance of having a healthy baby. Doesn't everyone over 35 have a level 2 ultrasound?

I too had pos quad screening with my second daughter and was told by my team (due to my medical conditions I have a team of OBs & Perinatologists at Univ of MD & Johns Hopkins Advanced Fetal Care Centers) not to stress. Those screenings have a very high false pos rate. My sono came back normal. I am not allowed amnio, and see no point in it for us since we would not have done anything different anyway. I too was so very worried when I first got the result. It was a friday night, and they told me the soonest I could be seen for further testing would be a week. Luckily for me my hubby works with one of my peri's brothers. Hubby called his coworker who then called his brother who then called me within 5 minutes. He explained every detail about the screening tests, did everything possible to ease our minds and then had us call his scheduling coordinator at the hospital and have our appt moved up to monday. I was so very relieved to see our little girl on screen, heart was perfect, in fact everything about her was and still is (she is now 8 m/o) just perfect :) Good Luck and God Bless!!!! Try not to stress about it.

P.S. We didn't opt to do the screening either. In our case the nurse filling out the lab slip included it (because it's standard procedure) without confirming with our DR's. Needless to say my OB was pretty ticked off about it.

I know exactly what you're going through and it's very difficult. I'm surprised that your OB didn't suggest a CVS or amnio test before now given your age (any expectant mother over 35 is considered AMA - Advanced Maternal Age and already has an increased chance of chromosome abnormalities such as Down Syndrome. So, no disrespect to you, as I'm also AMA). Those tests are 99% accurate and can ease your mind within 1 day! The amnio might still be something you want to consider, and will be an option for you. I also had a quad screen come back with an increased risk of Down Syndrome. I think my odds were 1:110. We then did the Level 2 Ultrasound, where they checked several indicators on the baby for Down Syndrome (width of back of neck, nose bone structure, size of hands and feet, detailed heart eval). They didn't find any indicators, and we left it at that. My son does not have Down Syndrome.

One thing that helped me was knowing that my odds were still less than 1% of having a Down Syndrome baby. I knew there was still that chance, but the ultrasound put us at ease.

One thing you can do is call the clinic where you are meeting with the genetics counselor and having the ultrasound and ask them to notify you of any cancellations this week and that you will take any day any time. Maybe you'll luck out and get in earlier?

I wish you lots of luck!

Well, Im 22 and when I was 21 and pregnant I had a 1 in 8 chance for having a Down's baby. I had 2 quad screen results come back abnormal. So I met with a genetic counselor and had 2 level 2 ultrasounds that showed no markers for Down's but I had an amnio done and it came back negative for Down's. My daughter was born in December 2010 without Down's but she was born with a rare congenital colon disease that is caused by an abnormality on the same chromosome that causes Down's. I was extremely stressed when I had the results come back abnormal but there are so many false positives it's ridiculous. I believe my doctor said it's almost 60% false positive for Down's.

False positives on that test are very, very high.

I would be angry, too. I want to be the one in charge of making medical decisions for myself.

The quad test is a screening test, not a diagnostic test. That means that it can only give a percentage possibility of something being wrong, it can NOT tell you if something is actually wrong or not.

Some sources say, though, that the statistical chances of having a Downs baby at age 42 are 1/67, so your result of 1/149 is actually better than average. I would ask your doctor about this.

I don't understand why they wouldn't have suggested the amniocentesis for you, because that can be done at 18 weeks and IS a diagnostic test. There are no "false positives" to that test.

I was 40 when pregnant with my daughter and all tests were still MY choice. I chose not to have any screening tests, and did have the level 2 ultrasound and the amnio done at 18 weeks.

my girlfriend had a 1:99 for Downs Syndrome and then went in for the Amnio test and everything was fine. Good luck with your journey.

Yes false positives are very high, so don't stress much about this! I had this test done with both of my pregnancies at ages 36 and 38. My doctor told me that pregnant women at age 35 the chances are 1:300, ove that he said it was 1:150. My test with my son was fine, but with my daughter my results came back questionable. It said my chances were 1:80. My doctor said there is always a margin of error (5% I think) and the only way to know for sure was by doing an amniocentsis, but that carried a risk for miscarriage. At any rate, my husband and I chose not to do anything and that we would just cross that bridge when we came to it. My daughter is a healthy, happy, smart 2 year old!
I have another friend whose daughter had horrible results from this test that her doctor and a neonatologist said they didn't know if her child was going to have Down's, Cystic Fibrosis, or some other condition, but actually urged her to abort!. Luckily, her family did not consider abortion an option and chose to move forward with the pregnancy no matter what happened. She has the most beautiful, smart,active, and popular teenage girl today.
The results of these tests are skewed all the time for whatever reason. My doctor said one of the tell-tale signs of a Downs baby is during the ultrasound he looks for a nose bone early on (usually by the 12 week u/s it can be seen) because Down's babies generally have flat facial features. My ultrasounds always came back great, so that was an added comfort for me. Hang in there! Your pregnancy will be great!
A.