Diagnosis 

Prenatal screening tests for spina bifida and other birth abnormalities will be provided if you are pregnant. The tests are not flawless. Some moms with positive blood tests have infants who do not have spina bifida. Even if the findings are negative, there is a risk that spina bifida exists. Consult your doctor about prenatal testing, its hazards, and how to deal with the results.

Examinations of the blood 

Maternal blood tests can screen for spina bifida, but ultrasonography is usually used to make the diagnosis. 

MSAFP (maternal serum alpha-fetoprotein) test: A sample of the mother's blood is drawn and tested for alpha-fetoprotein (AFP), a protein produced by the baby, for the MSAFP test. A little quantity of AFP crosses the placenta and enters the mother's circulation. However, exceptionally high AFP levels indicate that the infant has a neural tube abnormality, such as spina bifida, however high AFP levels may not always occur in spina bifida.

Confirm elevated AFP levels with a test: Other reasons, such as fetal age miscalculation or numerous infants, might produce varying amounts of AFP, so your doctor may arrange a follow-up blood test for confirmation. If the results remain high, you will require more testing, possibly an ultrasound exam. 

Additional blood testing: The MSAFP test may be combined with two or three additional blood tests by your doctor. These tests are frequently performed in conjunction with the MSAFP test, although their purpose is to screen for other diseases, including as trisomy 21 (Down syndrome), rather than neural tube abnormalities.

Ultrasound 

Prenatal ultrasound is the most accurate way to identify spina bifida in your kid. Ultrasound can be conducted throughout the first and second trimesters (11 to 14 weeks) (18 to 22 weeks). During the second trimester ultrasound scan, spina bifida can be reliably identified. As a result, this examination is critical for identifying and ruling out congenital defects such spina bifida. 

An sophisticated ultrasound can also reveal indicators of spina bifida, such as an open spine or certain abnormalities in your baby's brain. In the hands of a trained professional, ultrasonography can also be used to measure severity.

Amniocentesis 

If the prenatal ultrasound reveals that your baby has spina bifida, your doctor may do an amniocentesis. Your doctor will use a needle to extract a sample of fluid from the amniotic sac that surrounds the baby during amniocentesis. 

Despite the fact that spina bifida is seldom related with genetic illnesses, this investigation may be necessary to rule out genetic diseases. 

Discuss the risks of amniocentesis with your doctor, including the tiny possibility of pregnancy loss.

Treatment 

Treatment for spina bifida is determined on the severity of the problem. Spina bifida occulta seldom requires treatment, but other kinds of spina bifida must.

Before birth surgery 

If spina bifida is not treated, nerve function in newborns might deteriorate after birth. Prenatal surgery (fetal surgery) for spina bifida is performed before the 26th week of pregnancy. Surgeons surgically expose the pregnant mother's uterus, open the uterus, and reconnect the baby's spinal chord. This technique can be conducted less invasively in certain people by inserting a specific surgical instrument (fetoscope) into the uterus. 

According to research, children with spina bifida who have fetal surgery may have less impairment and are less likely to use crutches or other walking assistance. Hydrocephalus may potentially be reduced via fetal surgery. Consult your doctor to see if this surgery is right for you. Discuss the potential advantages and hazards for you and your baby, including as possible early birth and other issues. 

To decide if fetal surgery is viable, a thorough review is required. This sophisticated procedure should only be performed in a hospital with skilled fetal surgery specialists, a multispecialty team approach, and neonatal intensive care. A fetal surgeon, pediatric neurosurgeon, maternal-fetal medicine expert, fetal cardiologist, and neonatologist are usually on the team.

Cesarean section 

Many newborns with myelomeningocele are born with their feet first (breech). If your baby is in this position, or if your doctor has discovered a huge cyst or sac, a cesarean delivery may be a safer option.

After-birth surgery 

Myelomeningocele necessitates surgery within 72 hours of delivery to seal the opening in the baby's back. Early surgery can help reduce the risk of infection linked with the exposed nerves. It may also help to protect the spinal cord from further injury. 

A neurosurgeon puts the spinal cord and exposed tissue into the baby's body and covers them with muscle and skin during the surgery. Simultaneously, the neurosurgeon may insert a shunt into the baby's brain to manage the hydrocephalus.

Complications treatment 

In neonates with myelomeningocele, irreversible nerve damage has most certainly already occurred, necessitating continuing treatment from a multispecialty team of surgeons, doctors, and therapists. Babies with myelomeningocele may require further surgery due to a number of problems. Complications such as weak legs, bladder and bowel issues, or hydrocephalus are often treated shortly after delivery. 

Treatment options for spina bifida vary depending on severity and consequences:

Mobility and walking assistance: Some newborns may begin workouts to prepare their legs for later walking with braces or crutches. Some youngsters may require the use of walkers or a wheelchair. Mobility aids, in conjunction with regular physical therapy, can assist a child in becoming self-sufficient. Even youngsters who use a wheelchair can learn to function effectively and eventually become self-sufficient.

Management of the bowel and bladder: Routine bowel and bladder exams and management regimens assist in lowering the risk of organ damage and sickness. X-rays, renal scans, ultrasounds, blood tests, and bladder function investigations are among the tests performed. These assessments will be more frequent in the first several years of life, but will become less common as children get older. A pediatric urology expert with experience examining and operating on children with spina bifida may provide the most effective therapy choices. 

- Oral medicines, suppositories, enemas, surgery, or a combination of these treatments may be used for bowel control. 

- Medication, catheters to empty the bladder, surgery, or a combination of therapies may be used in bladder management.

Hydrocephalus surgery: Most newborns with myelomeningocele will require a surgically implanted tube to empty fluid from the brain into the belly (ventricular shunt). This tube may be inserted shortly after delivery, during surgery to closure the sac on the lower back, or later when fluid accumulates. Endoscopic third ventriculostomy, a less invasive treatment, may be a possibility. However, candidates must be carefully selected and satisfy specific requirements. During the surgery, the surgeon uses a tiny video camera to see into the brain and cuts a hole in the bottom of or between the ventricles to allow cerebrospinal fluid to drain.

Other complication treatment and management: Bath chairs, commode chairs, and standing frames may be useful in daily life. Whatever the problem is - orthopedic difficulties, a tethered spinal cord, GI troubles, skin problems, or others — most spina bifida sequelae may be treated or managed to enhance quality of life.

Continued care 

Children with spina bifida require regular monitoring and follow-up treatment. Their primary care doctors assess development, vaccine requirements, and general medical conditions, and they coordinate medical treatment. 

Children with spina bifida frequently require treatment and follow-up care from: 

-Rehabilitation and physical medicine 

- Neurology 

- Neurosurgery 

- Urology 

- Orthopedics 

- Rehabilitation treatment (Physiotherapy : Please click for further information)  

- Occupational therapy (OT) 

- Teachers of special education 

- Workers in social services 

- Dietitians 

Parents and other caregivers have an important role on the team. They can learn how to assist manage a kid's illness as well as how to emotionally and socially nurture the youngster.

Coping and assistance 

When you learn that your newborn child has a disability like spina bifida, you may experience loss, rage, frustration, anxiety, and despair. However, there is reason to be optimistic because most individuals with spina bifida live active, productive, and complete lives, especially with the encouragement and support of loved ones. Children with spina bifida can attend college, work, and have a family. 

While certain accommodations may be required along the road, urge your youngster to be as self-sufficient as possible.

For all children with spina bifida, independent movement is an important and reasonable aim. This may imply walking with or without braces, utilizing walking assistance (such as canes or crutches), or using a wheelchair completely. Encourage children to engage in activities with their classmates, and caregivers can assist in modifying activities to accommodate physical constraints. 

Many children with spina bifida have normal intellect, however some may require educational help due to learning difficulties. Some youngsters struggle with attention, focus, or language, which necessitates outside-of-school counseling.

Children with spina bifida, like any other kid with a chronic medical illness, may benefit from consulting with mental health specialists, such as a child psychologist, to help with adjustment and coping. Most spina bifida children are tenacious and adjust to their obstacles with the help of their parents, teachers, and other caregivers. 

If your kid has spina bifida, you may find it helpful to join a support group of other parents who are dealing with the disease. Speaking with individuals who understand the difficulties of living with spina bifida might be beneficial.

Getting ready for your appointment 

During your pregnancy, your doctor will most likely suspect or diagnose your baby's problem. If this is the case, you will most likely visit with a multispecialty team of doctors, surgeons, and physical therapists at a spina bifida treatment facility. 

Here's some information to help you prepare for your consultation and understand what to anticipate from your health care professionals if your baby is suspected of having spina bifida.

To do List

To be ready for the meeting, do the following: 

Keep any pre-appointment instructions in mind. When you plan the appointment, be careful to ask whether there is anything you need do ahead of time, such as drinking additional water before an ultrasound. 

Make a record of any drugs, vitamins, herbs, and supplements you used prior to and during your pregnancy, as well as the doses. 

If possible, bring a family member or a friend with you. It might be tough to recall everything that is spoken to you during an appointment. Someone accompanying you may notice something you overlooked or neglected. 

Make a list of questions to ask your doctor, beginning with the most crucial in case time is of the essence.

Some fundamental questions to ask about spina bifida include: 

- Is there spina bifida, and how severe is it? 

- Is there evidence of fluid buildup on the brain (hydrocephalus)? 

- Can my kid be treated while I'm pregnant? 

- What will happen to my kid just after birth? 

- Will the therapy be effective in curing my child? 

- Will there be any long-term consequences? 

- Who should I contact to learn about community resources that may be able to assist my child? 

- What are the chances that this may happen again in future pregnancies? 

- How can I avoid this happening in the future? 

- Is it possible for me to obtain brochures or other printed materials? 

- What websites do you suggest?

What to anticipate from your doctor 

Being prepared to answer inquiries from your doctor may allow you to set aside time to go over any points you wish to emphasize. For example, your doctor may inquire: 

- Have you ever given birth to a kid with spina bifida or another birth defect? 

- Is there a history of spina bifida in your family? 

- Do you remember taking folic acid (vitamin B-9) before and throughout your pregnancy? 

- Are you now using any anti-seizure meds, or did you use them during the start of your pregnancy? 

- Are you able to go to a facility that provides specialized care if necessary?

By Recmed Medical - Pediatric Neurosurgeon Doctors and Pediatric Spine Health Center