When you go for a 20 week scan can they detect spina bifida by just looking at the ultrasound?
Yes. I am on anti-seizure meds (with all 3 pregnancies actually) and it can cause Spina Bifida. That's the first thing they look for on my ultrasounds - they can see the spine clearly at that point. Now, I suppose if it started out very small (because there are different stages of severity with each person who had SB) and grew - they would detect it on a later ultrasound. Because of my meds I get more frequent ultrasounds and so as development went on the ultrasounds kept coming up clear. My advice - unless you have an actual reason to worry that your baby might have it - don't worry yourself! It's really stressful! Otherwise, if you do have reason (meds or genetics) talk to your doc and they will probably just schedule an extra ultrasound or two after 20 weeks to keep up with baby's growth and spinal progress.
Spina Bifida- Sex-Linked or Autosomal?
Nope. Spina bifida is neither... Sex-Linked or Autosomal dominant/recessive falls in the category of 'monogenic traits' or 'Single Gene Disorders'. Spina bifida is in the category of 'Polygenic inheritance', also known as quantitative or multifactorial or complex inheritance/disorders. http://en.wikipedia.org/wiki/Polygenic_i... NOTE: Additional reading for some uneducated people. Both genetic factors (heredity) and environmental factors, such as nutrition and exposure to harmful substances, probably contribute to spina bifida. Spina bifida does seem to run in families, although with mixed patterns of inheritance. Having a child with spina bifida increases the chance that another child will also have spina bifida by 8 times. Research has suggested that many cases of spina bifida can be prevented by adequate intake of folic acid (folate) before and during early pregnancy. Folate reduces neutal tube defects up to 70%. http://www.emedicinehealth.com/spina_bif... Here is an article that shows apparent X linked inheritance of spina bifida. http://www.ncbi.nlm.nih.gov/pmc/articles... Many disorders with genetic components are polygenic, including autism, cancer, diabetes and numerous others. Most phenotypic characteristics are the result of the interaction of multiple genes. 'Neural Tube Defect' http://en.wikipedia.org/wiki/Polygenic_inheritance#Quantitative_traits
Is spina bifida fatal?
Short answer, not usually. Complications of treatment, or if it were left untreated could lead to death. Anytime the central nervous system is exposed to the general environment, infection that compromises brain or spinal function can occur. Generally speaking, neural tube defects (NTDs) are one of the most common birth defects, occurring in approximately 1 in 1,000 live births in the United States. A neural tube defect is an opening in the spinal cord or brain that occurs very early in human development. The early spinal cord of the embryo begins as a flat region, which rolls into a tube (the neural tube) 28 days after the baby is conceived and when the neural tube does not close completely, an NTDs develop before most women know they are even pregnant.Two types of Neural tube defects: Open: The most common type occur when the brain and/or spinal cord are exposed at birth through a defect in the skull or vertebrae. Examples of open NTDs are spina bifida (myelomeningocele), anencephaly, and encephalocele. Closed: Rarer Occur when the spinal defect is covered by skin. Common examples of closed NTDs are lipomyelomeningocele, lipomeningocele, and tethered cord.A nice summary of NTD's and outcomes is avalaible here: Medscape Log In
How do doctors know you have Spina Bifida?
Well, you have one correct professional answer here already. Frank Han's answer to How do doctors know you have Spina Bifida?But, as an owner/operator of said spina bifida condition, allow me to add that given when I was born, in the early 60s, anticipating the arrival of a baby with spina bifida was a trickier prospect: the only real way back then, I think, was to perform an amniocentesis, and these always carried a non-negligible risk to mum and baby. As I was my mother's first child, there was no clinical reason for this.Once I arrived, though, it was pretty obvious: my version of spina bifida, myelomeningocele, presents as a big lesion somewhere along the spine. Mine is at L4-L5, the two lowest lumbar vertebrae, pretty much right in the middle of where you'd find the dimples of Venus on someone's back.Dimples of Venus - WikipediaSpina bifida - WikipediaHowever, another less severe version of spina bifida called occulta, might easily go undetected and people with this level of spina bifida typically discover it later in life, when they find they have odd back aches or “something doesn't feel quite right”.Spina bifida occulta - Types, Symptoms, Diagnosis, Treatment, Causes, and Cure.Occulta is generally a malformation of the vertebrae only, whereas the other two types, meningocele and myleomeningocele, involves the sheath around the spinal cord-meningocele; or all three structures-vertabrae, sheath and cord, in myelomeningocele.
What is spina bifda?
An opening of the spine, allowing the spinal cord to be exposed. This causes loss of motor function.
I was told that my grandson has spinal difia, what is spinal difia?
Spina bifida (Latin: "split spine") describes birth defects caused by an incomplete closure of one or more vertebral arches of the spine, resulting in malformations of the spinal cord. The spinal membranes and spinal cord may protrude through the absence of vertebral arches (called clefts). These malformations fall into three categories: spina bifida occulta, spina bifida cystica (myelomeningocele), and meningocele. Spina bifida is a type of neural tube defect. Neural tube defects can usually be detected during pregnancy by AFP screening or a detailed fetal ultrasound. Spina bifida may be associated with other malformations as in dysmorphic syndromes, often resulting in spontaneous miscarriage. However, in the majority of cases spina bifida is an isolated malformation. Spina bifida has varying prevalence in different human populations. This and extensive evidence from mouse strains with spina bifida suggests a genetic basis. As with other human diseases such as cancer, hypertension and atherosclerosis (coronary artery disease), spina bifida likely results from the interaction of multiple genes and environmental factors. Despite much research, it is still unknown what causes the majority of cases. Nevertheless, there is substantial evidence supporting a significant protective effect of folic acid (0.4 mg per day) when taken by women early in pregnancy. It is important to note that spina bifida occurs by the fourth week of pregnancy before many women will be aware of a pregnancy, thus it is generally recommended that women of child-bearing age take a folic acid supplement (most multivitamins contain 0.4mg folic acid) if they are sexually active. Genetic counseling and further genetic testing, such as amniocentesis, may be offered during the pregnancy as some neural tube defects are associated with genetic disorders such as trisomy 18. The most common locations of the malformations are in the lumbar and sacral areas. The lumbar nerves control the muscles in the hip, leg, knee and foot, and help to keep the body erect. The sacral nerves control some of the muscles in the feet, bowel and bladder and the ability to have an erection. Some degree of impairment can be expected in these areas.
It is common someone autism Spectrum not be able ride bike or jump rope, also remember dates and stats well?
We vary. It took me ages to learn to ride a bike, and learning to drive a car was a nightmare (eventually mastered.) I have not a chance doing BMX tricks or staying on top of a skateboard before even trying tricks. I can't juggle three balls to save my life. Not even two. Poor multi-channel information processing, and poor instinctive motor skills. But we vary. We can have skill highs and lows sitting adjacent for what to others might appear closely-related activities. Spiky ability profiles. Similarly with dates or statistics. We might easily even be good at some sets and terrible at others.
What are the three strategies parents can follow to minimize the risk of mental retardation in their children?
Do you mean before they are born? If they have problems after birth it will most likely be due to an ABI (Aquired Brain Injury) Before birth the mother should not drink as this can lead to FAS (Fetal Alcohol Syndrome) of which mental retardation is a symptom. Mother can also take folate, this will improve the chances of a child being born without Spina Bifida.
What would cavemen do if they had a child with a birth defect/mental disability?
I would presume that a very obviously disabled baby would be cared for but not fed and allowed to die. Sometimes I wonder if this wouldn't be a mercy even today with some very severe, major defects. Problems like oomphalocele, hydrocephalus, spina bifida, anencephaly, major tumours, very deformed limbs, etc.But no one would know a child was mentally challenged or had an internal organ issue like a heart defect until it was older. As exists today, mentally challenged people are still valuable members of society so they would help the group out with supervised activities. Physically disabled children can usually still help out if assisted or supervised too. With poor nutrition and shorter life spans, a disabled child/adult wouldn't be a concern for as long either. Remember, they wouldn't have any medical care for this person so their life span would likely be even less.With smaller obvious physical issues like cleft lip, a missing or misshapen digit(s) or limb(s) etc, it probably wouldn't be a big deal. Unless some superstition had developed regarding such people. But they were just as likely to be considered special or holy than left to die. After all, with conditions being so primitive, various members of the clan might be missing limbs or an eye or have various differences due to injury or disease.BTW, I believe in creation so my comments apply to early uncivilized humans who lived in caves rather than Neanderthal etc. which most people regard as ‘cavemen’.