Anencephaly

Anencephaly is a rare birth defect that occurs when the baby’s cranium bones do not form completely which prevents the cerebellum region of the brain from developing normally. The cerebellum controls advanced thinking as well as vision and other sense. Anencephaly is almost always fatal for the fetus and causes stillbirth or miscarriage.

This defect is classified as a neural tube birth defect because it is caused by the failure of the anterior neural tube to close. The neural tube is part of a fetus that is supposed to close early in fetal development and form the spine and brain. When the neural tube does not close normally (by the 4th week of gestation), it can lead to significant birth defects, including anencephaly.

The closure - called a rostral closure - normally occurs early in brain development. The posterior neural tube closure occurs after the brain is more developed. This has much less significant consequences that are correctable by surgery. But the failure of the posterior neural tube to close can also cause very serious complications such as paraplegia and difficulty with bladder and bowel functions.

Anencephaly is a fatal condition because of the severe brain malformation that is present. A child with this defect is expected to live at most one month, although there is a case report of a child who lived for 28 months. It is very painful for the parents who often endure enormous grief over the loss of their child.

Anencephaly is a rare birth defect, occurring in only 3 out of every 10,000 pregnancies in the U.S. Anencephaly is a very serious type of birth defect that often results in death. 3 out of every 4 cases of anencephaly result in a stillbirth or babies that died within the first few days of life.

Anencephaly is easy to diagnose after the baby is born based on physical abnormalities in the skull. In some cases, the sections of the skull bones may be missed along with the scalp.

Diagnosing anencephaly during pregnancy is much more difficult and requires testing to be definitively diagnosed. Methods used in the prenatal diagnosis of anencephaly include:

• Blood Testing: anencephaly can result in abnormally high levels of a particular liver protein called alpha-fetoprotein. High levels of this protein can suggest anencephaly but not definitively diagnose it.
• Amniocentesis: testing of the amniotic fluid can be done to identify high levels of certain proteins that are associated with neural tube defects.
• Ultrasound: abnormalities in the baby’s skull development can often be identified on ultrasound imaging. If combined with high protein levels in blood tests this can be used to make a solid diagnosis.
• Fetal MRI Scan: a fetal MRI can be done to provide more detailed and informative imaging studies than those compared to ultrasound.

Anencephaly is a fatal birth defect. When this condition occurs is prevents the cerebellum area of the brain from developing enough to support life. When a fetus has this birth defect it will either result in miscarriage, stillbirth, or death shortly after birth. There is no method of treatment for anencephaly.

Most anencephalic fetuses die shortly after childbirth because they lack essential brain functions. Only 32% of anencephalic fetuses carried to term can be characterized as live births.

Intense efforts can prolong life. With intensive neonatal care, including intubation and usually assistance with respiration, some anencephalic fetuses can survive for seven days to two months and sometimes longer. Without intensive care, only % of liveborn anencephalic babies survive to seven days.

The causes of anencephaly are not well understood, so there is no guaranteed way of preventing it. One thing seems crystal clear: it is not the mother's fault.

The most effective means of minimizing the risk of anencephaly is taking prenatal vitamin supplements before and during the early stages of pregnancy. Prenatal vitamins provide folic acid supplements for pregnant women - and even before you conceive - that reduces the risk of anencephaly.

For some unknown reason, maternal age between ages 26-30 causes a greater risk of anencephaly.

One study found that pregnant women with the common cold in the first trimester had a four to five times greater risk of anencephaly.

Finally, it is worth noting that some believe that SSRIs - Paxil, Zoloft, Prozac, etc, - cause an increased risk of adverse pregnancy outcomes, including anencephaly.

This is a difficult issue. Continuation of pregnancy after a diagnosis of anencephaly is thought by some to be medically safe. Other doctors may say it is in the mother's best interest, both physically and medically, to terminate her pregnancy once the diagnosis of anencephaly was made. There are many emotional and religious implications for many.

Obviously, you want to consult with your doctor and make the best decision for you and your family. 

A Good Nurse Makes a Difference

When the choice is made to deliver the child, a good nurse makes a big difference in managing the family's trauma.  When an infant is born with anencephaly, the nurse should provide emotional support to the family and ensure that the infant is comfortable. The nurse should explain the condition to the parents in a sensitive and compassionate manner, providing them with information about the infant's prognosis and the available options for care. 

The nurse should also provide the family with resources and referrals for counseling and support services for the grief and emotional distress associated with this tragedy.  In addition, the nurse should ensure that the infant's pain is adequately managed, and that the infant is kept comfortable and free from discomfort. Finally, the nurse should respect the family's cultural and religious beliefs. This is always important but particularly important here because so many of these choices are made with religious and cultural beliefs in mind.  

(If you are a nurse reading this because you want to provide the best support possible, thank you. You are one of good ones.)

What Is Acrania Anencephaly?

Acrania and anencephaly are both types of neural tube defects that affect the development of the fetal brain and skull. Acrania is a condition where the skull does not form properly and there is no cranial vault, while anencephaly is a more severe form of acrania where there is a complete absence of the brain and most of the skull. 

In anencephaly, only the brainstem, which controls automatic functions such as breathing and heartbeat, is typically present. Both acrania and anencephaly are considered fatal conditions, although, again, some cases babies with anencephaly may be carried to term and survive a short time after birth.

 Lwin, S, et al: "Anencephaly is a complicated and perplexing situation." Research Journal of Pharmacy and Technology. 2022; 15(5):2097-9. doi: 10.52711/0974-360X.2022.00347. The article explains who anencephal is a congenital condition in which there is an absence of the skull, scalp, and forebrain (cerebral hemispheres), and how it is categorized under neural tube defects (NTD). The authors note that NTD is the second most common fatal anomaly after cardiac defects. The case report highlights the ultrasound features used to recognize the condition by first and second-trimester scans and the role of folic acid in the prevention of further occurrence. 

Kancherla, V. et al. "A global update on the status of prevention of folic acid-preventable spina bifida and anencephaly in year 2020: 30-Year anniversary of gaining knowledge about folic acid's prevention potential for neural tube defects."  Birth Defects Res. 2022 Dec 1;114(20):1392-1403. doi: 10.1002/bdr2.2115. Epub 2022 Nov 7. PMID: 36345648. (The study provides an update on the status of the prevention of folic acid-preventable spina bifida and anencephaly globally. The study found that 61,680 preventable cases of folic acid-preventable spina bifida and anencephaly were prevented in the year 2020 through mandatory fortification in 58 countries, translating to 22% prevention of total possible cases globally. But, tragically, many countries in Africa, Asia, and Europe are yet to implement fortification. The result is an estimated 218,270 preventable cases of these birth defects globally.

Bonnard, C., et al. "A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling." Journal of Experimental Medicine. 217.12. (2020). (This study looked at the gene NUAK2 and its association with anencephaly. Based on their models, the researchers found that NUAK2 activity disruption caused nucleokinesis impairments and apical constrictions that lead to anencephaly. The researchers concluded that NUAK2 was “an indispensable kinase” for human brain development. They suggested the gene-regulated cytoskeletal processes that regulate cell shapes in neural tube closures.)

Debnath, M., Sharma, D., & Mishra, S. "Prenatal diagnosis of anencephaly and acrania in pregnant females–Report series of eight cases." International Journal of Medical Science and Public Health. 9.5. (2020). (This study looked at whether evaluating fetal morphology could timely detect anencephaly and acrania. The researchers concluded that healthcare providers could use ultrasounds and alpha-fetoprotein tests to timely diagnose anencephaly and acrania in the first trimester. The researchers also emphasized the importance of preventing them by consuming folic acid supplements and appropriate nutrition. This study’s focus was to build awareness of anencephaly and acrania among India’s rural population.)

Duffy, S. "The Ultrasound Evaluation of Fetal Anencephaly." (2021). (This study looked at whether ultrasounds could accurately detect anencephaly. The researcher concluded that an ultrasound’s accuracy depended on whether the sonographers and physicians knew the right tests, appearances, and differential diagnoses to find on the test.)

Munteanu, O., et al. "The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature." Rom J Morphol Embryol. 61. (2020): 2. (This literature review looked at anencephaly’s etiology and morphology. The researchers concluded that this condition was a severe CNS malformation. They also concluded that morphological characterizations would allow for timely and accurate screenings.)

Wertaschnigg, D., et al. "Ultrasound Appearances of the Acrania-Anencephaly Sequence at 10 to 14 Weeks’ Gestation." Journal of Ultrasound in Medicine 39.9 (2020): 1695-1700. (This study whether ultrasounds could detect acrania-anencephaly sequences in the first trimester. Researchers used six different subtypes to determine interobserver reliability in classifying acrania-anencephaly sequence cases. The researchers found that the interobserver operator was good, with a 0.903 intraclass correlation efficient. They concluded that the use of different subtypes could detect acrania-anencephaly sequences earlier on in a pregnancy. They also concluded that timely diagnoses could result in better-managed pregnancies.)