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.
Neural tube defects. The primary test is the maternal serum fetal protein. If that is abnormal, an ultrasound examination and perhaps an amniocentesis.
Antepartum Dx. There are screening tests available to detect neural tube defects in the fetus. The most common is called alfa fetoprotein. The levels of this substance is significantly increased if the fetus is affected with an open neural tube defect.
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.
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.
Neurologist. A neural tube defect is a congenital defect that appears at birth, and can be detected when the baby is still inside the mother in pregnancy, by ultrasound and mother's blood level of a protein associated with the spinal cord called alpha- fetoprotein, or AFP. A neurologist and neurosurgeon specialize in care of people with neural tube defects. You need to call your nearest specialty hospital ASAP.
If you are seeking a. 2nd opinion, ask your OB-GYN to refer you to a Fetal-Maternal Medicine Specialist at Children's Medical Center, https://www. Childrens. Com/specialties/maternal-fetal-medicine/. There you'll have a 3-D Ultrasound. If Spina Bifida or other NTD is confirmed, a pediatrician at CMC will assemble the team of pediatric subspecialists who will attend to your baby at delivery for seamless care.
Neural tube defect. Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The most common neural tube defects are spina bifida, anencephaly, and encephalocele.
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).
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.
NT defect. This depends on the cause of the defect, but overall, your risk for a second child with a neural defect increases after you have a child with a defect. Your OB will likely suggest taking a higher dose of folic acid when you are thinking of conceiving.
It varies. If parents have had one child with a neural tube defect their risk of having another child with a defect is about 3 %. If they have had two children with the defect their risk increases to about 7 %. A parent who has a neural tube defect also has about a 3 % risk of having a child with a neural tube defect. All of these risks can be lowered significantly by maternal Folic Acid ingestion.
NT Recurrence rate. If you have one child with a neural tube defect, chances are higher that a second child will have one are 10-30x's that of the general population, between 1 in 40 and 1 in 100 depending on type of defect.