Neural Tube Defects

Question: Is an amniocentesis done when they do the testing for neural tube defects and down syndrome? I read that an amniocentesis can tell for sure whether the baby is a boy or girl. At our next appointment we are getting the testing done for neural tube defects and down syndrome and I was wondering if we could also find out the sex for sure before the ultra sound in February. She will be about 18 weeks at the testing and then we're supposed to have an ultra sound around 20 weeks.

Answer: It's highly unlikely you're having amnio done. You're probably having a blood test called a triple screen or a quad screen (one looks for the *risk* of three defects, the other for four). Let me say that again: This test is checking **risk** factors only. It will not tell you if a problem actually exists. IF your results come back with a higher than normal risk of a defect, your doctor will schedule an ultrasounds - which probably would have been done soon after anyway - and then based on that u/s will discuss options with you, amino being one of them. The triple/quad tests cannot tell you anything about gender. I highly encourage you to hit Google and read up on these blood tests. They are pretty controversial and with the knowledge I have now, I wouldn't submit to one again.

Question: Can an ultrasound completely rule-out neural tube defects? After my baby's afp test showed high risk for neural tube defect, i have undergone many ultrasound's and nothing has been detected. Now i am 4 weeks away from my due date and still nothing abnormal has been seen...does this mean my baby doesn't have a neural tube defect?

Answer: Ultrasounds usually only use visual markers to detect a potential defect, chances are more tests are needed.

Question: Recieved the results from my quad4 screening today and my neural tube defects came back negative.? but because i'm 32 my chances for having a baby with downs is 1/130 so she scheduled me for the amnio test already Monday. I feel really deprived because she like basically told me i needed it done because of my chances. Can anyone ease my mind? I'm a nervous wreck.

Answer: The reason your doctor wants you to have the amnio is because your risk factor came back greater then it should be for your age. They estimate the odds to be 1 in 800 births are downs. After age 35, the estimated risk is 1 in 300 (approximately- different sources will give you different numbers). Question: Did you have an NT scan (Nuchal translucency screening) with blood test when you were between 11 and 12 weeks pregnant? This test tends to be more accurate in detecting an increased risk then the quad screen. The quad screen is known for making people worry needlessly. A risk of 1/130 is still an extremely good chance that there is nothing wrong with your baby. Unfortunately, the only way to know for sure is to have an amnio. If you have an amnio done by a very experienced doctor who has an excellent success rate then the risk of losing your baby from the procedure is extremely low. They use a much smaller needle now then they did in the past. I got a number of 1 in 27 for downs from my NT scan with blood work. I wasn't going to do the amnio but after being freaked out and worrying about it for weeks, I was driving myself crazy and couldn't take it anymore. I had the amnio and my baby girl did have downs. At the same time a pregnancy group that I belonged to had two other women that also got bad results from the NT scan. One had a risk of 1/30 and the other 1/45 (or something to that affect I can't remember exactly her number) both of their babies did not have downs. I was the only unlucky one. I am so sorry you are going through this. I know personally how awful it is to worry about your baby. It is really up to you on what you want to do. You have to ask yourself some serious questions: Can you be calm and just let it go and wait until the baby is born to find out? Being anxious and upset will not be good for your baby or pregnancy. Can you/do you want to continue the pregnancy if the baby does have downs? If the baby has downs and you would continue your pregnancy would you like to be prepared before the birth of the child? (Learn all you can about downs- the medical, physical and education needs that you will have to address......) You need to decide what is best for you and your mental state. Once again, I want to repeat that there is a very good chance that your baby is fine. I wish you peace of mind and a healthy baby. Much strength and best of luck to you.

Question: whether neural tube defects can be clearly detected at 18th week scan? any doctors pls advise, i lost my previous baby to neural tube defect called annencephaly

Answer: At 18 weeks it should be able to be seen. I'm so sorry for your previous loss. I can't even imagine the pain you went through. Did you take your Folic Acid before getting pregnant again? Folic Acid can significantly reduce the chances of neural tube defects. Good Luck! I think they would've seen something by now!

Question: what are the chances of neural tube defects at 33yrs and slightly high AFP?

Answer: 1) Maternal age is not a risk factor for neural tube defects. 2) It depends on how high the AFP is how high the neural tube defect risk is. If it is truly "slightly high" it is most likely less than a 5% chance of neural tube defect. 3) It depends on if you have already had a normal high resolution ultrasound (which can see 90-95% of neural tube defects).

Question: i need to know everything about Neural Tube Defects! plz!? i am 18 weeks 4 days pregnant and they told me that i am at a high risk of my child having neural tube defects. i really don't know anything about it. if my baby does come out with this i know that it can have surgery but will it be able to walk and have a normal life? plz give me all the information you know about this. thanx

Answer: neural tube refers to the spine so when a baby has neural tube defect, usually the closing of the end of the spine is incomplete therefore posing a risk for infection. In extremely situation, a very vascular bag may be bulging outside of the back in either case, surgery is a must. speak to your doctor he or she can give you readings on that.

Question: I didn't take folic acid the first 12 days after conception how worried about neural tube defects should I be? Actually I am already worried, and from just going around the internet, I think I should be fine. I would just love to have some reassurance. THANKS!!!

Answer: You take a lot of folic acid in regular food you will be fine. I don't really believe in the vitamin thing. I didn't take vitamins my first pregnancy and my baby is fine.

Question: neural tube defects? just curious? i read something about neural tube defects, that a neural tube develops 28 days after conception and the defects took place on that time if not properly developed, so that is most likely before a women realize that she is pregnant... then as soon as a women realize that she is pregnant, lets say earliest is 5 weeks and oldest is 3 months, the doctor will gave a dose of folic acid throughout pregnancy to prevent neural tube defects, how does it make sense if the neural tube develops before the women realize that shes pregnant...Im just a little lost in that part, can somebody help me to enlighten this...can a prenatal vit (folic acid and other supplement) can correct it?

Answer: Good question...the neural tube begins its development at 28 days, but obviously is not FULLY developed at that time. So, folic acid is given to help prevent development of defects during the furthur development. If a young woman is planning to become pregnant, it is wise for her to ask her doctor if he would recommend begining to take folic acid before she becomes pregnant. Many birth defects begin in the very early days of pregnancy, this is why young women need to take excellent care of their health before becoming pregnant, because, as you said, by the time they know, it can be too late.

Question: Neural Tube Defects? I have diabetes, and im pregnant, they stated that it was more likely that my baby would be born with neural tube defects due to this, also they stated that children with these birth defects normally miscarry. I am still not out of range for miscarriage, but they have found a heartbeat on my baby as well as the baby is moving around normally. Does this mean my baby is ok? or is it still able to look as though it is developing normally and still have a ntd?

Answer: Have you had any tests done to prove your baby has NTD? Most NTDs can be detected during pregnancy by one of three different prenatal tests: Maternal Serum Alpha Fetoprotein (MSAFP), a screening test that is performed on a pregnant woman's blood at approximately 16-18 weeks of pregnancy High Resolution Ultrasound, which may detect an NTD visually after approximately 18 weeks of pregnancy. Some severe forms of NTDs such as anencephaly, may be detected earlier than 16 weeks Amniocentesis, a test that samples the amniotic fluid (fluid that surrounds the baby) after 15 weeks of pregnancy. God Bless and may you have a healthy baby.

Question: Why is folic acid touted as protecting against neural tube defects even after 4 weeks of gestation? http://grove.ufl.edu/~folic/ntds.html http://www.nlm.nih.gov/medlineplus/neura… The neural tube closes after 4 weeks of gestation (6 weeks of pregnancy) -- so, why do people focus so much on "make sure you get folic acid to prevent neural tube defects!!" even after this period? I realize that folic acid is involved with cell synthesis, so I know it's still important to consume enough of it even after this period of time.. but a lot of women don't even realize that they're pregnant until they're 4 - 6 weeks pregnant.. At 6 weeks (4 weeks gestation, when the neural tube closes) it's too late to play catch up with folic acid.. so why do people focus on it so heavily even after this time frame? I figure people are misinformed about when the neural tube closes and when babies get the neural tube defects, exactly. The other day someone on here who is almost 6 months pregnant rambled about being careful not to block her folic acid intake for fear of her baby getting neural tube defects.. when at 6 months neural tube defects aren't possible anymore. I am writing this up to inform the misinformed -- and ask if you thought, before reading this, that neural tube defects could occur at any time of your pregnancy? I wonder why.. with all of the books out there about pregnancy and information out there on the net, why do folks believe this myth? Is it not clearly stated in information, like pregnancy books maybe, in order to scare people, perhaps? I'm mainly just curious about this. I get curious when people seem to make the same mistake over and over again. And hey, I'm not knocking people for wanting to make sure pregnant women take folic acid -- that's great -- I am just curious about your opinions and experiences on this matter.

Answer: well folic acid also protects against other birth defects than neural tube defects. It's just those seem to be the most "important" or pushed reasons. It can also protect against things such as cleft palate and lip. Folic acid is important. Yes many woman get enough with a healthy diet. There are some woman though that may not be able to absorb enough folic acid through diet so taking extra is really just a precaution. I'm not one of those who freaks out over a lot of things. I don't remember my prenatal each day and I eat hotdogs while pregnant. However, I was very good about taking extra folic acid for the first 12 weeks. I have a neice who had a small cleft palate. I also have MTHFR gene mutation that is fairly common and can make it harder to absorb folic acid so taking more makes it likely I'll get enough. I do agree with you that woman should be informed about when neural tube defects occur. That way they can make the best choices about possibly taking it before pregnancy if possible. :)