What to do if a pregnancy is diagnosed with neural defects

What to do if a pregnancy is diagnosed with neural defects

Often, the screening test is an ultrasound which picks up abnormalities in the child. Most couples are still in doubt about these findings at the first go

By Dr Shradha Maheshwari 

Pregnancy takes a different path for each couple. Everyday is about learning and unlearning. But when unprecedented challenges occur in a pregnancy, the path may become unexpectedly challenging. The most upsetting news for any couple during pregnancy is to discover that their child has some birth defect.

Seeking expert opinion is inevitable but let’s take a look at the most common questions that a couple is faced with.

Is this for sure?

Often, the screening test is an ultrasound which picks up abnormalities in the child. Most couples are still in doubt about these findings at the first go. Once this indicates neural tube defects, confirmatory tests can be performed. These tests are recommended to identify the severity and extent of the defect. These include:

Amniocentesis: In this test, the amniotic fluid from the womb is taken and tested for certain markers which help to confirm birth defects. Measurement of alfa fetoprotein and acetylcholine esterase levels help in diagnosis of neural tube defects. It is usually done at 15 to 20 weeks of pregnancy.

MRI: When an ultrasonography picks up neural tube defects but delineates the details of the defect, an MRI is performed. MRIs can find out the exact extent and severity of birth defects in the baby. This detailed study can help one learn more about the baby’s condition and options for treatment.

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What exactly is this defect and how will it affect our child?

Most common neural tube defects seen are Spina Bifida and Anencephaly. While Anencephaly are defects that affect the brain, as the name suggests, Spina Bifida are the birth defects in the spine and spinal cord. While a neurosurgeon will discuss in detail about the defect unique to your child, let’s take a look at the common ones.

Anencephaly: This defect is characterised by an underdeveloped brain and an incomplete skull. Most of these births are still-born. The milder variety is known as Encephalocoele. Here, the defect in the skull is a small gap through which a portion of the brain bulges out. Encephalocoeles can be operated upon, giving the child an opportunity for near normal life.

Spina Bifida: This is broadly categorised into two main types, Spina bifida occulta and Spina Bifida Aperta.

Spina Bifida Occulta: These defects are the ones which are covered by normal skin. Sometimes indicated by external markers like a patch of hair in the lower back, discoloration of the skin or simple dimple between the buttocks. Most manifest their neurological issues in adolescence or early adulthood. These defects can be operated upon and in general have a good outcome.

Spina bifida Aperta: Often presenting as swelling in the lower back, these defects occur in three types, varying from mild, moderate to the most severe ones.

Meningocele are defects that happen when the meninges are pushed out through a small defect in the bones that cover the spinal cord and can happen anywhere along the spinal column.

Myelomeningocele is a more severe variety where in addition to the meninges even the spinal cord or the nerve roots protrude out through the defect. Often these children have some neurological deficits and many times these babies also have associated development problems of the brain.

Myeloschisis is the most severe form of Spina Bifida and here the spinal cord and corresponding layers of the back till the skin practically fail to develop. Most often these defects lie open without any skin cover over them and are associated with failure to thrive.

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Does the option of termination of pregnancy exist?

No one conceives a pregnancy with an intention to terminate it. The decision to abort or continue the pregnancy can be very difficult for both the parents at a time when they discover that the child has some malformation. Information and support from the doctors can help in guiding this decision. Severe anomalies diagnosed in time can proceed with the termination under correct guidance. Various support groups are available where the patient can gather information for the same.

What should be the mode of delivery for such a pregnancy?

An expert can take you through the pros and cons of a normal vaginal delivery versus a cesarean section in such a situation. A caesarean section is preferred in babies with myelomeningocele, where there is a large cyst or swelling in the back or in cases where there is a large herniation of the brain increasing the overall head size. In general, there is no real consensus regarding the mode and time of delivery. More often this decision is guided by factors like the type of defect, maternal indications and the patient’s desire after counselling.

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What will be the way forward after delivery of this child?

When faced with a situation like that it’s always better to get in touch with a neurosurgeon and discuss the defect, its effect, viability and long-term outcomes. Not all NTDs are dangerous, some are compatible with near normal life. A neurosurgeon can guide your way further through such a pregnancy. Many defects can be repaired after the birth and now foetal surgery is offering some ray of hope in these patients. Timely intervention can help in preventing morbid neurological deficits.

Foetal surgery: Foetal surgery, or in utero surgery in a child who is diagnosed with NTD takes place before the 26th week of pregnancy. Research suggests that children with spina bifida who undergo foetal surgery may have reduced disability. However, these surgeries do come with their own set of risks like premature delivery and it’s related complications. Hence, it is important to take a calculated decision whether a foetal surgery should be performed under appropriate guidance.

Surgery after birth: Open defects or large swelling require surgery after birth. Performing surgery here helps in repairing the nerves, prevention of life threatening infections, early neurological recovery and restoring the cosmetic outcomes. Sometimes, multiple procedures may be needed in the same sitting or at different times. Children with neurological deficits and bladder and bowel complaints need further rehabilitation with physical and occupational therapists.

(The writer is a Consultant Neurosurgeon.) 

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