Anencephaly is a congenital anomaly wherein the a baby’s skull, bones, and brain do not form completely while in utero. It results in limited development in the baby’s cerebral cortex, particularly the region responsible for sensory processing, motor control, and cognitive functions. Anencephaly is considered to be a defect affecting the neural tube, a narrow structure that usually undergoes closure in the course of fetal growth and gives rise to the spinal cord and brain.
Causes
Experts do not think anencephaly is genetic or passed down in the families. Typically, it occurs sans any family history. However, if your earlier child had a neural tube defect, there is a greater probability of your next born to have anencephaly. A combination of nutrition during pregnancy, genes, and environmental factors are all responsible for the condition. Some treatment options and risk factors also aggravate your risk of having a baby with a neural tube defect or anencephaly. Here are some of the risk factors for the condition:
Lack of folic acid
Women who do not get adequate Vitamin B9 or folic acid while pregnant have a high risk of having a baby with anencephaly. To avoid such situations, doctors advise women to judiciously take a prenatal vitamin with 400 micrograms of folic acid, or as required, during and before pregnancy.
High body temperature
Using a sauna or hot tub or having a fever during early pregnancy can be one of the causes or risk factors of having a baby with a neural tube defect.
Diabetes
Uncontrolled diabetes can also amplify the risk of neural tube defects. It spikes blood sugar levels and may harm fetal development.
Symptoms
One of the most evident anencephaly symptoms includes the missing parts of the skull, typically the bones in the back of the head. Some bones on the skull’s front or sides may also be poorly formed or missing. Further, the brain also does not develop properly. Due to the lack of a healthy cerebral cortex, unfortunately, the infant cannot survive. Other symptoms include a cleft palate, folding of the ears, and poor reflexes. At times, infants with anencephaly may also have heart defects.
Diagnosis
Usually, anencephaly is diagnosed during pregnancy via a routine ultrasound or blood screening. Pregnancies affected by anencephaly result in elevated concentrations of a distinct fetal protein known as alpha-fetoprotein. This protein can be detected within the mother’s blood or the amniotic fluid. Imaging techniques can reveal the absence of brain or skull components and irregularities in the developing fetus’ facial features.
Advanced testing for anencephaly diagnosis includes:
An anatomy ultrasound to offer high-resolution pictures of the brain and nearby structures.
An MRI to give detailed pictures of the skull and the brain.
Amniocentesis to identify abnormal development markers, such as extra amniotic fluid, chromosomal anomalies, and spiked alpha-fetoprotein.
Typically, anencephaly diagnosis happens right after delivery, when the baby is born with skull or brain abnormalities.
Treatment
Sadly, there is no fool-proof treatment for anencephaly. Typically, the care is supportive, meaning healthcare professionals take measures to make the baby as comfortable as possible. The condition usually leads to death in weeks (sometimes even days). Grief counseling services are also available to help parents cope with the loss of their child.
