What are the dangers of Spina Bifida Gene found during an ultrasound?
Genes have codes on them that supply information or traits inheritedfrom each of our parents, when we then go on to have a baby the woman's egg and the man's sperm together add a new supply of these traits to their baby. It is the matter that combines to make our baby a unique combination of each parent.The trait for Spina Bifida is what would be found in a genetic study. How great the dangers after finding the trait along with trying to determine what other factors contribute to a child developing the defect and what can be done to prevent the damage. At this time studies suggest it is probably caused by genetic, dietary and environmental factors.Certain anti-seizure medications, diabetes, maternal obesity, an increased body temperature from fever or hot tubs, having a relative with spina bifida; all can increase the chances a woman will conceive a baby with a spina bifida. Most women who give birth to babies with spina bifida have none of these risk factors, and so despite years of research, it is still unknown what causes the majority of cases.Scientists know when parents carry the gene for Spina Bifida their children carry a higher risk of having the birth defect. They also know a daily dose of folic acid (Vitamin B) in women at risk, taken before conception reduces the risk of having a baby with the defect up to 75%. When a couple has given birth to a baby with neural tube defects (NTDs), future children carry about a 3% increase in risk, that risk can be reduced to about 1% if the woman takes high doses of folic acid before and during pregnancy. Continued use of folic acid during pregnancy may reduce the severity of the defects when they do occur. It is unknown how or why folic acid has this effect.Spina Bifida meaning split spine (Latin), is a developmental defect meaning it occurred during embryonic development. Often before the woman realizes she has conceived, the cells that form an early central nervous system come together and fuse between day 21 and 28 forming a single neural tube that will connect and house the brain, fluid and spinal cord. If in the first 28 days, the neural tube fails to close. The result is a defect of the central nervous system called Spina Bifida.When a fetus is found on ultra sound to have Spina Bifida, the risk is determined by what the defect actually consists of. The spine usually provides a protective tube of bones with the nerves (spinal cord) running down the middle. In severe cases of Spina Bifida there can be an opening in the skin and muscles usually found in the babies lower back, the bones do not close round the spinal cord and the nerves can bulge out of the unborn baby's back. Either defects in the spinal cord and/or injury to the protruding nerves can leave the baby paralyzed. While the opening in the spine can be closed, any damage to the nerves is usually permanent. Spina Bifida is the most common permanently disabling birth defect in the United States. Affecting approximately 1 in 1,000 births.Spina Bifida is not just one condition; it is a catch phrase for a multitude of problems affecting the body and the mind. Possibly more important the spirit of everyone in the family.NTDs can involve both the spinal cord causing nerve damage and paralysis and also development of the brain; anencephaly is a neural tube defect (NTD) that occurs when the head end of the neural tube fails to close, this can cause a portion of the brain and skull to be malformed or missing. Infants born with this condition are born missing part of the cerebrum, most having this condition are blind and deaf.Encephalocele, is usually determined shortly after birth when the membrane that covers the brain protrudes through a small opening in the skull. The severity depends on where on the head it forms and whether the brain tissue is also found to be outside of the cranium. Both physical and mental delays are common issues, paralysis, microcephaly, vision problems, seizures and mental retardation.Children with Spina Bifida often have hydrocephalus, which literally means water on the brain, but the fluid is actually cerebrospinal fluid (CSF), malformed ventricles aren't able to drain and excess fluid will build up. The worst case scenario is the presence of excess fluid build up putting pressure on the brain. The pressure can push brain tissue aside causing more damage and is the reason a shunt is put in to the brain allowing excess to be drained off into the abdomen where it is reabsorbed by the body.Spina Bifida Occulta (or hidden) is the most mild form. In occulta, the outer part of some of the vertebrae are not completely closed. The split in the vertebrae is so small that the spinal cord does not protrude. The skin over the lower spine on a person with occulta may appear normal, or there may be a small dimple, a dermal sinus, a lipoma or birth mark.Spina Bifida Cystica A cyst protrudes through the defect in the vertebral arch causing a dorsal dural sac looking much like a blister on the baby's back. The terms spina bifida and myelomeningocele are usually used interchangeably. Spina bifida cystica may result in hydrocephalus and neurological deficits.Meningocele is the less severe and less common defect, where the spinal cord does not protrude into a dural sac and the vertebrae develop normally. However the meninges are forced into the gaps between the vertebrae causing tethering and the surgery to free the cord has notbeen found to be of great success due to scar tissue forming. Untethering is the second most common surgical procedure after shunts in children with Spina Bifida.Myeolomeningocele is a protrusion from the an opening in the spinal column in which the sac pressed through the bony opening contains tissue and cerebro-spinal fluid but also nerves and part of the spinal cord. The spinal cord is not properly developed or damaged. As a result, there is always some paralysis and loss of sensation from the damaged region down. The amount of disability depends on where the Spina Bifida is, and the amount of affected nerve tissue involved. Most people with myelomeningocele experience bower and bladder problems due to the loss of spinal pathways relaying information up and down the spinal cord .Spina bifida with myeloschisis is the most severe form of spina bifida cystica. In this defect, the involved area represented by a flattened, plate-like mass of nervous tissue with no overlying membrane. The exposure of these nerves and tissues make the baby more prone to life-threatening infections and surgery is usually performed soon after birth, if the baby is medically stable. If the opening is small enough doctors may leave it to heal on it's own.These conditions can be diagnosed in utero by ultrasound imaging. or the basis of elevated levels of alpha-fetoprotein after amniocentesis.Research has shown that up to 75% of all people with Spina Bifida have an allergy to latex. Because allergies can develop over time and reactions can be progressively worse the doctors and other caretakers need to limit the amount of latex products that come into contact with their patients who have NTD starting at birth.Currently there are studies underway to determine whether surgery performed in utero or waiting until after birth provides the best outcome When surgery is performed on a fetus skin grafts are used to cover the exposed spinal cord, to protect it from further damage caused by prolonged exposure to amniotic fluid. The surgery may prevent more damage from occurring but at this time damage to the spinal cord cannot be repaired. The fetal surgery may decrease some of the damaging effects of the spina bifida, but the is risk to both the fetus and the pregnant woman.The National Institute of Child Health and Human Development (NICHD), a part of the NIH, is currently looking for women pregnant with a baby known to have Spina Bifida. The Management of Myelomeningocele Study (MOMS) website has information on the trial, at attached link.
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