“I’m sorry but your baby’s condition is not compatible with life,” I told E. She was dumbfounded. She could not believe what I was saying. As I continued to show her the images of her baby on the ultrasound, she began to realize that this was really happening. Tears started to roll down her cheeks as she touched her growing tummy gently.
E, 32, has delivered two healthy children aged 4 and 2. This was her third pregnancy. Ultrasound examination at 12 weeks of gestation revealed that the bones around the front and sides of the head of her baby were missing and the brain was underdeveloped. Her baby had a serious birth defect called anencephaly in which the brain and the skull of the baby are not fully developed leaving part of the brain exposed in the amniotic fluid.
During foetal development, the brain is formed from a tube-like structure known as neural tube which arises from the rolling and fusion of a flat plate of cells. The neural tube normally closes at around 3 to 4 weeks of gestation. If it fails to close properly, the developing brain will be exposed in the amniotic cavity. The amniotic fluid will slowly cause the brain tissue to degenerate resulting in a loss of a large parts of the brain. The bones of the skull are also missing or incompletely formed. The birth defect is called anencephaly.
About 75 percent of babies with anencephaly are lost in miscarriages or stillborn. Newborns who survive are mostly unconscious and are usually blind and deaf. Some babies that have a remnant primitive brain tissues may seem to respond to sound or touch, but their reactions are involuntary. The newborns usually die within several hours, days, or weeks.
It is estimated that anencephaly occurs in 1 in 5000-10,000 pregnancies. The exact number is difficult to estimate as many anencephalic babies end in miscarriages. There are more female newborns than males, possibly because of a higher rate of miscarriages or stillbirths among male fetuses.
Causes of anencephaly are unclear and complex. It is likely caused by the interaction of genetic and environmental factors. Some of these factors have been identified, but many remain unknown Among the environmental factors, folic acid deficiency in the mother before and during pregnancy is probably the most significant. Other possible maternal risk factors include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy.
Anencephaly is usually diagnosed during pregnancy by ultrasound or MRI. There is no known cure or treatment for anencephaly. Support and grief counselling to help the mother and her family cope with the loss of her child are most important.
E decided to continue with her pregnancy because of her religious belief. However, at 30 weeks of gestation, she could not feel the baby’s movement for a day. Ultrasound examination confirmed an intrauterine death. She opted for induction of labour which was carried out with insertion of vaginal medication. The foetus was delivered normally after 5 hours of labour. E remained calm throughout her stay in hospital and was discharged well on the next day.
On her review 6 weeks later, E passed me a note in which she wrote. “Doc, thank you for respecting and supporting me on my decision to continue with this pregnancy. This has given me time to prepare psychologically after birth when I am most vulnerable. All of the pain and all of the grieving we went through has absolutely been worth it. I could have chosen an easy way out by terminating the pregnancy. But I feel that would have been showing a terrible example to my children – it would have been akin to saying them that if there had been something wrong with them, I would have terminated them as well. God Bless”.