Neural Tube Defect, such as Spina Bifida, is the second most common birth defect in the world. This article gives a comprehensive overview of NTDs and the emotional impact on parents.
Neural Tube Defect
Emotional impact on parents upon the diagnosis during pregnancy & beyond
Neural Tube defect (NTD) is a type of birth defects. NTDs develops when the baby’s neural tube does not close completely during early stages of pregnancy.
This is the second most common birth defect after the congenital heart defects.
About 300,000 babies are diagnosed with NTDs each year. (Ref)
With the help of global public health measures (mainly Folic acid food fortification), the incidence of NTDs has reduced significantly. The current estimated incidence of NTDs is 0.8/1000 births. (Ref 1)
A birth defect is a condition that is present in the baby at birth. This develops when the baby is developing inside the mother’s womb. This occurs when one or many parts/ organs of the baby’s body do not develop properly.
The Neural Tube
The neural tube is a hollow tube-like structure in the baby found at very early stages of pregnancy. The Neural tube changes further during the pregnancy and develops into the brain and the spinal cord.
Neural tube starts to develop as a flat layer of cells just after the conception.
Eventually, this turns into a hollow tube by the end of four weeks of pregnancy.
Surrounding tissues of the neural tube form the skull (bones covering the brain) and the backbone or vertebral column (bones covering the spinal cord).
What are the different types of Neural Tube Defects?
NTDs are mainly divided into two categories:
Open defects (brain and/or spinal cord is exposed due to a defect in the skull or backbone): examples include Spina Bifida, Anencephaly, and Encephalocele.
Close defects (deformities of the brain and/or spinal cord without any defect in the skull or the backbone)
Open NTDs are more common than the closed ones.
Two common (almost 95%) types of NTDs are:
– Spina Bifida (a condition where there is a gap in the baby’s spine)
– Anencephaly (a condition where a major part of the brain and skull does not develop. This occurs when the head end of the neural tube does not close)
Prevention of Neural Tube Defect
60-70 % of the NTDs can be prevented if women take adequate Folic acid before pregnancy and during the first trimester (first three months of pregnancy)
Folic acid is a vitamin which is essential for healthy cell growth and development.
Neural tube starts to develop at a very early stage of conception. This is a time when the woman might not even aware that she is pregnant (i.e., even before the pregnancy test).
Moreover, after one has started taking Folic acid, it takes few months to reach an adequate level in the blood to prevent NTDs.
Therefore, it is useful to take Folic Acid before pregnancy (preconception), ideally 3-4 months before pregnancy.
In many countries, there is regulation to add Folic Acid (‘fortification’) to the food products when they are produced. This has been found to reduce the occurrence of NTDs in those countries.
Women are also encouraged to eat food naturally rich in folate (the natural form of Folic acid).
It is debatable whether supplementing or fortifying food with Vitamin B12 could also prevent NTD.
How can Neural Tube Defect affect the child?
This depends on the type of the NTD. For example, in the mild form of Spina Bifida, children do not have any symptom and they are perfectly capable of leading a normal life.
On the other hand, anencephaly is incompatible with life. In other forms of NTDs, children might have different degrees of disabilities, depending on the severity of the condition.
In spite of surgery to close the gap in the vertebral column, children with spina bifida could be left with significant disabilities. These could include lower limb paralysis, incontinence of urine and/ or stool and learning disabilities.
How is the NTD diagnosed?
This is usually diagnosed during an ultrasound scan between 18 and 21 weeks of pregnancy (anomaly scan).
Neural Tube Defect and emotional impact on the parents
A diagnosis of NTD during pregnancy could have a significant emotional impact on the parents.
Pregnancy should be a time of joy and fulfillment.
However, on the diagnosis of NTD, parents often have to consider the following and could be distressing:
1. Disability:
The child might survive but could have significant physical (including bowel and bladder functions) and/ or mental disability. They might have to use crutches, walkers, wheelchair or other assistance throughout their lives.
2. Social and financial implications of care:
In many countries, parents have to fund the entire care of a disabled child. There might be no or very little assistance available from the government/ public sector.
The child could require round-the-clock carer. Parents might not have necessary family support and might have to consider leaving a job and other commitments.
3. Need for surgery:
Depending on the type/ severity of the Neural Tube Defect, the baby might require complex surgery after birth.
This could mean a referral to a tertiary unit. This unit might be far away from where the parents live (in many parts of the world) and might not be readily accessible.
In many countries, parents have to pay for these expensive surgeries themselves. This could have financial implications. Many parents could be unable to afford.
On the other hand, the thought of a new-born undergoing surgery could be very distressing too.
Sometimes, surgeries are offered before the baby is born. However, this type of surgery in the womb (intra-uterine surgery) is in the stage of infancy in many countries.
4. Termination of pregnancy (abortion):
Sometimes, parents are given the option of the termination of pregnancy (when there is no specific treatment available and/or the condition is incompatible with life). This could be very challenging times.
Often there are other factors involved in the decision making, such as religious and cultural beliefs.
The emotional response of parents
The initial response is usually of a shock as the news is unexpected. Many parents go through a phase of acute grief for some time.
They often feel helpless and guilty after the diagnosis of Neural Tube Defect. This happens particularly when they have to consider an abortion (termination of pregnancy).
When the pregnancy continues, then the individual emotional response varies.
Some parents focus on the future planning of care and treatment.
Some are very traumatised and find it very difficult to stay optimistic. They could continue to have the grief response and/ or suffer from severe anxiety.
Many parents have a combination of hope and concern for the future welfare of the child.
Rarely, this could lead to conflict in the family relationship. Some might feel very isolated and lonely.
Supporting parents with a prenatal diagnosis of Neural Tube Defect
(Ref 2)
1. Information
Research has shown that parents benefit from receiving good quality information (verbal and written). Further appointments to answer their questions and help in the decision making are also very helpful.
Healthcare professionals should receive necessary training in his regard. They should also be aware of the huge emotional impact of the diagnosis.
2. Social support
Parents might benefit from the emotional support from their families and friends.
3. Peer support/ Supporting organisations:
They could provide useful information and necessary support. Some well-known organisations in this regard are:
– Shine
– Spina Bifida Hydrocephalus Scotland
– Antenatal Results and Choices
4. Professional help:
Parents might benefit from support from an experienced clinical psychologist.
Naomi has explained this further in her Lifecare Counselling website:
“My extensive research and experience have revealed that although hospital professionals are very kind and support expectant parents medically, imparting their knowledge on their baby’s condition, few are able to continue supporting parents emotionally after diagnosis.
Expectant parents are often left feeling isolated and wading through the myriad of emotions and fact-finding, all within a limited time-frame, of whether to continue or terminate their pregnancy, a choice that will affect them for the rest of their lives.”
Naomi also supports the parents with a disabled child.
She added. “Parenting a child with a disability or additional needs is often described as a roller-coaster ride of emotions and experiences. – It can be hard to talk to family and friends about how you feel or what you are experiencing.
At Lifecare counselling, I understand that living with a disabled child carries times of loneliness and isolation.
The possible emotional, social, intellectual and physical complications experienced by your child may impact on you and your family.
With more than 27 years’ experience of working closely with parents of disabled children, I fully understand the complications that surround being a parent of a disabled child.”
Conclusion
Neural Tube Defect is a birth defect which could lead to significant physical and or mental disability of the child. This is usually diagnosed with ultrasound scan between 18-21 weeks of pregnancy (also known as ‘anomaly scan’).
This could be worrying news for the parents and could cause significant psychological distress. Therefore, parents should be supported appropriately.
Healthcare professionals should be aware of the emotional/ psychological impact of the diagnosis of Neural Tube Defect.
Caring for a disabled child could be stressful and challenging for the parents. This could be expensive too.
Peer support and voluntary organisations could play an important role in supporting the parents.
Folic Acid supplement (prior to conception and during the first trimester of pregnancy) could prevent Neural Tube Defects.
Reference
1. Epidemiology of neural tube defects. Am J Med Genet C Semin Med Genet. 2005 May 15135C(1):88-94.
2. Chaplin, Julie & Schweitzer, Robert & Perkoulidis, Shelley. (2005). Experiences of Prenatal Diagnosis of Spina Bifida or Hydrocephalus in Parents Who Decide to Continue with Their Pregnancy. Journal of genetic counseling. 14. 151-62. 10.1007/s10897-005-0488-9.
Acknowledgment
This article has been written with the kind help of Naomi Martson.
Naomi is a BACP and Infant Loss Certified Counsellor/ Psychotherapist from the UK.
Through her organisation, Lifecare Counselling, she provides professional independent counselling and specialist support for the parents after a miscarriage, diagnosis of fetal anomalies, stillbirth or death of a baby in the neonatal period.
With over 20 years’ experience of working in this field, she offers clients an impartial, supportive and a confidential service.