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Anencephaly Neural Tube Defects
MSAFP and ultrasound: Maternal serum Alpha fetoprotein at 16 weeks and detailed ultrasound at 18-20 weeks should detect fetal open neural tube defects with 96% accuracy. Closed neural tube defects are more difficult to diagnose but are more innocuous too. ...Read more
How did you find out: Are you pregnant. or was it from reviewing your family history? Before pregnancy, the risk of an NTD can be reduced to the general population risk by taking 4 mg of folic acid daily before you know that you are pregnant. NTDs occur before a woman knows that she is pregnant,so starting folate then is shutting the barn door after the horse is gone. If pregnant, you require appropriate diagnostics ...Read moreSee 1 more doctor answer
In the 28w scan when they didnt get a clear shot of her spine the report said questionable sacrococcygeal open neural tube defect?
Get another scan: Scan quality varies with the equipment used and the experience of the tech.Some physicians spend most of their work day doing high resolution scans that are the most specific for determining what is going on.I would check with the OB and review the scan.See if a better scan is available or what else they can do to confirm what is going on. ...Read more
Tested positive for neural tube defects. I had a level 2 uktrasound done and everything was normal. Should I be worried still? Why did I test positive
Screening purpose: The purpose of screening is to find problems.You do so in steps.You use a less invasive test that is not as specific to narrow down the number of people getting the more invasive or expensive specific test.If I can screen 5000 people with test one and 100 come back suspicious, I can do step 2 on that 100 to find the 2 that are true problems. Any pregnancy can have an unexpected issue at some point ...Read more
Ultrasound, MSAFP.: Prenatal ultrasound should have >90% sensitivity for open neural tube defect detection around 20 weeks. Earlier (>16 weeks) risk stratification can occur with screening maternal blood for AFP - although that is not diagnostic and has to be followed by ultrasound for confirmation and/or differential diagnosis. Fetal MRI is used as part of evaluation for possible fetal surgery to treat spina bifida. ...Read moreSee 1 more doctor answer
NTD: Neural tube defects are a host of lesions that affect the spinal cord. They vary in degree from spina bifida occulta ( mildest ) to craniorrachischis totalis ( severest), spina bifida, and myelomengocele being the most frequently encountered. They have been linked to a diet deficient in folate (folic acid) during pregnancy. ...Read moreSee 1 more doctor answer
Possibly: It depends on multiple factors. There are different degrees of neural tube defects. Some people can have a mild defect and other may have a severe defect. It also depends on the location of the defect. Your doctor might be able to better answer this question with all of the relevant information. ...Read more
None: There are no symptoms in a pregnant woman if her baby has a neural tube defect. The blood test for maternal serum Alpha fetoprotein (msafp) is frequently elevated, if she has that testing done, but an ultrasound is necessary to diagnose a neural tube defect in the baby. ...Read moreSee 1 more doctor answer
Physical exam: NTD's can form from one end of the nervous system to the other. The most common is spina bifida cystica with a sac of the inferior spinal cord and a skin opening near the lower end of the spine.Hidden defects in the area may be suspected on close exam. NTD at the neck can have a sac of neural tube coverings, Anencephaly, with an open skull is also obvious. ...Read more
No: There are no natural treatments for neural tube defects. The presence of a neural tube defect in a fetus requires surgical closure either in utero or after delivery. Closure of the defect can be associated with accumulation of fluid in the brain and shunting is sometimes necessary. ...Read moreSee 1 more doctor answer
If a sacral dimple is closed and is just a skin dimple, does this mean the child has a neural tube defect underneath?
Sacral dimple: Most of the time, sacral dimples are harmless and don't require any treatment. Rarely, a sacral dimple may indicate a serious underlying abnormality of the spine or spinal cord. To rule out any abnormality, your child's doctor may recommend an imaging test. If an abnormality is discovered, treatment depends on the underlying cause. ...Read moreSee 2 more doctor answers
I tested positive for neural tube defect (I'm 20 weeks). I had my level 2 ultrasound and everything is normal. Should I still be worried?
Yes: Vigilant is a better term. All tests have a certain propensity for false positive and false negative results. While the ultrasound is reassuring, don't let it bring down your guard. Remember to communicate the findings with staff at the hospital/delivery environment as well as to the NICU/well-baby staff as relevant. A focused post-partum physical exam (baby) is important. ...Read more
NTD: The "best" test is an amniotic fluid AFP concentration. That picks up about 90% of open neural tube defects. However, an ultrasound examination also picks up the majority of open neural tube defects. ...Read more
2 tests: To diagnose a neural tube defect the two most useful tests are 1) The mother's blood level of a protein that lines the inner surface of the developing spinal cord in the fetus, called alpha fetoprotein, and 2) a fetal or newborn ultrasound of the spinal canal itself. Other radiologic tests such as X-Ray films, CT scans, and MRI scans help to get a clearer picture of the neural tube defect ...Read more
8x greater risk: It has been shown that having a child with a neural tube defect increases the chance of having a second child with a similar defect. The recurrence risk in this situation is 8 times greater than the risk if no such history was present. Also if there is any family history of neural tube defects there is an increased risk of an affected pregnancy even if not immediate relative (2cd or 3d degree). ...Read more
Additional screening: A positive initial screening test should be followed by a more involved and dependable test looking for this possibility.A diagnostic high resolution ultrasound can be performed that can evaluate baby from top to bottom and see if there is any direct evidence of a problem. Discussion of these findings with a geneticist or perinatologist may then be needed if the problem is not excluded by the test. ...Read more
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