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anencephaly

Anencephaly

Anencephaly is a severe birth abnormality in which a newborn is born without portions of their brain or skull. Such a defect affects the neural tube (NTD). The baby's brain, skull (the upper portion of the neural tube), spinal cord, and backbone are all formed when the neural tube develops and closes properly (the lower part of the neural tube). Anencephaly occurs when the top section of the neural tube fails to seal completely. As a result, babies are frequently born lacking the frontal lobe (forebrain) and the cognitive and coordination region of the brain (cerebrum). Bone and skin are frequently absent from the remaining portions of the brain.

 

Symptoms:

 

Each kid may present with distinct symptoms; the most prevalent anencephaly signs and symptoms are listed below:

 

  • There is no bony covering above the rear of the skull.
  • Missing bones on the head's sides and front
  • A fold in the ear
  • Palate deformity, is a syndrome when the child's mouth roof does not fully seal, creating a hole that can reach the nasal cavity.
  • Congenital cardiac conditions
  • Several fundamental reflexes, but consciousness and survival of the infant are both dependent on the development of cerebrum.

 

Anencephaly symptoms might match those of other illnesses or ailments. For a diagnosis, always visit your child's doctor.

 

Types:

 

Anencephaly is a severe congenital birth defect in which the brain and skull do not develop properly during fetal development. There are three types of anencephaly-

  1. Meroanencephaly: Where there is rudimentary brain tissue and partial formation of cranium. 
  2. Holoanencephaly: Most common type in which the brain is completely absent. 
  3. 3.Craniorachischisis: Most severe form which is a combination of anencephaly with a contiguous defect of spine. 

 

  1. Typical anencephaly: This is the most common form of anencephaly, in which the baby's brain and skull are severely underdeveloped. In this form, the baby is born without the majority of their brain and skull and typically does not survive more than a few hours or days.
  2. Iniencephaly: This is a rare form of anencephaly in which the fetal skull is severely deformed, causing the head to tilt backwards and the face to look upward. The brain is still underdeveloped, and the spinal cord(cervical and thoracic region) may also be affected. Infants born with iniencephaly have a very poor prognosis and often die shortly after birth.

 

Alarming factors:

 

Anencephaly is a severe birth defect that results from incomplete development of the fetal brain and skull. It can be caused by genetic mutations or abnormalities, exposure to certain environmental factors, maternal health conditions, nutritional deficiencies, or alcohol or drug use during pregnancy. The exact cause of anencephaly may not be known in some cases, but taking steps to maintain a healthy pregnancy and minimizing exposure to potential risk factors can help to reduce the risk of this devastating condition.

 

Diagnosis:

 

Your healthcare practitioner may request certain tests during pregnancy to check for symptoms that might point to a neural tube abnormality. Moreover, medical practitioners can diagnose anencephaly in babies based on their appearance. Among the prenatal causes of anencephaly are:


  • Quad marker screen: This blood test looks for genetic and neural tube issues. Alpha-fetoprotein testing is one of the quad marker screen assays (AFP). Higher amounts of this protein are discovered by the AFP test. AFP is produced by the foetal liver, and if anencephaly is present, large quantities might seep into the blood of a pregnant woman.
  • Ultrasound: Ultrasound is the modality of choice to diagnose anencephaly. This imaging technique uses sound waves to create images of the developing baby. The foetal skull, brain, and spine are examined with an ultrasound (sonogram) by your healthcare professional.This is the birth defect which can be easily picked up in first trimester scan itself. 
  • Magnetic resonance imaging (MRI) of the foetus: Your doctor may rarely request this imaging test to provide a more thorough view of the brain and spine.
  • Amniocentesis: During this procedure, your healthcare professional takes a little amount of fluid from the amniotic sac, which is the fluid-filled bubble that surrounds the foetus in your uterus. The amniocentesis fluid is examined in a lab for excessive concentrations of AFP and the enzyme acetylcholinesterase. A fetus's presence of either of these chemicals might indicate a neural tube defect.

 

Treatment:

 

Anencephaly is a severe and irreversible birth defect, so there is no cure or treatment available. Most of the time, the newborn cannot live more than a few hours or days after birth. However, parents may decide to end the pregnancy if anencephaly is found during the pregnancy. After delivery, the baby can receive supportive care to keep them as comfortable as possible until they pass away. Families with a history of anencephaly may also benefit from genetic counselling to address the possibility of a return in subsequent pregnancies.

 

Conclusion:

 

The development of anencephaly and other abnormalities of the neural tube cannot always be avoided. However, by planning ahead of time and being healthy, you may dramatically reduce your chances of delivering a child with the illness. Even if you do not intend to become pregnant, women of reproductive age should take 400 mcg of folic acid daily. If you've already given birth to a kid who has a neural tube defect, talk to your healthcare practitioner about ways you may stay healthy.

Medanta Medical Team
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