Anencephaly

Approximately 1 in every 4,859 babies born in the United States are born with Anencephaly

A Neural Tube Defect

Anencephaly is a Neural Tube Defect (NTD) characterized the absence of a major portion of the brain, skull, and scalp that occurs during the embryo’s development. It results when the head end of the neural tube fails to close and occurs between the 17th and 30th day of pregnancy (4th-6th week after the woman's last menstrual period), often before the mother even knows she is pregnant.

According to the Center of Disease Control, more than 300,000 babies worldwide are born with a NTD making NTDs the leading cause of defects in developing infants.
Spina Bifida and Anencephaly are the two most common defects with Anencephaly being estimated to occur in 1 out of every 4,859 births here in the United States alone.
Anencephaly can be diagnosed as early as 12 weeks and is considered life-limiting. Because of this, many parents may choose to induce their pregnancy early. Depending on their state of residence, these births and defects are not recorded in a state or national census because the induction took place before the baby was 20 weeks of gestation. The 1 out of every 4,859 births reflects babies that were born after 20 weeks of gestation. It is believed that this number is actually much higher and that Anencephaly effects far more families each year than what the numbers portray.

The Neural Tube begins as a flat pancake-like structure of cells that folds into itself. As its folded edges meet they begin to seal, creating a tube. As this tube forms and closes, it forms the baby’s brain and skull (upper part of the neural tube) and the spinal cord and back bones (lower part of the neural tube). Anencephaly occurs when the upper part of the Neural Tube does not completely close.

Image above: A series of pictures illustrating the development of the Neural Tube between days 21-28. The final image (day 28) shows an opening along the folded edge of the Neural Tube which results in a Spina Bifida Defect. An opening like this, but at the head of the Neural Tube would result in an Anencephaly defect.

The Anencephaly Defect

Anencephaly is a Neural Tube Defect estimated to affect 1 in every 4,859 births in the United States.
The Anencephaly Defect occurs when the upper part of the Neural Tube does not completely close.
Babies that are diagnosed with Anencephaly are born without their cerebrum or without parts of it. The degree of missing cerebrum varies from baby to baby and little is known about the complete function of the babies intact cerebrum until they are born. The cerebrum is the central part of the nervous system that is responsible for movement, thought, learning, memory, language, and emotion. Once diagnosed, the visible tissue or developed parts of the cerebrum are left unprotected because of the lack of skull which protects the brain/cerebrum during the babies development and life. This leaves the remaining cerebrum exposed to the amniotic fluid which makes it vulnerable to more damage and detereoration.
More research needs to be conducted on the process of deterioration during development, the development of an Anencephaly babies brain and the effects to the cerebrum's function after being exposed to amniotic fluid.

Image Above is an image of a healthy baby with a fully formed and complete skull. You can see the solid bone lining of the babies skull that is rounded and protecting the inner brain tissue.

Luca's 14 week ultrasound which first revealed his defect, thought to be Anencephaly. The solid white area is bone and it is clear that the bone stops just aboue his eyebrows.

Causes of Anencephaly

Ultrasound Image of a baby diagnosed with Anencephaly at 12 weeks. The babies top portion of his skull is absent and open allowing tissue to flow freely in the amnitoic fluid. This tissue, since not protected by skin and bone will likely begin to deteriorate over time.

Life-Limiting

Cerebrum

Brain Stem

The exact causes of Anencephaly are not fully known but It is believed that Anencephaly could be caused by any of these/ or a combination of these factors: child's genetic make-up, environment, and the Mothers Behavior.

Genetics: This means that the child inherits the gene through their parents.
Environment: These are things that you come in contact with everyday that could be harmful to your pregnancy. i.e.: Chemicals, cigarette smoke, polluted water
Behavior: These are activities that the Mother partakes in while pregnant. i.e.: Drinking alcohol, sitting in a hot tub, taking certain medication

Research is being conducted at Duke University Medical Center to understand more about the genetics of an Anencephaly baby. They also collect data on the Mothers Environment and Behaviors to help better understand the causes of Anencephaly. Their hope is that their research will lead to more accurate screening. better prevention, and one day a cure. To learn more about the study and to see how you can participate click

The point where Luca's skull stops in development

Luca's Brain Mass

Anencephaly is a defect that is considered, at this time, Life-Limiting. The opening in the the skull allows vital tissues of the brain and nervous system to be unprotected and exposed to the wombs environment and acidic amniotic fluid. The environment deteriorates and damages the brain and nervous system which results in these babies haviing a limited life span. An independent study took data from 303 families whose child was diagnosed with Anencephaly but were carried to term or till premature labor naturally happened.

7% died in utero

18% died during birth

26% lived between 1-60 minutes

27% lived between 1-24 hours

17% lived between 1-5 days

5% lived 6 days or more

Therefore, 75% of Anencephalic babies survived their birth. There were significant differences in the survival rates in relation to the babies delivery method. In cases of planned cesarian section (c-section) only 4% died during their birth. All of those babies had additional defects or malformations that contributed to their death. Babies born via c-section not only survived their birth but they also lived longer than babies born vaginally.

Families who are seeking to increase their chances of having a live birth should draw their doctors attention to having a cesarian section.

Jaquier M, Klein A, Boltshauser E., 2006. Spontaneous Pregnancy Outcome after Prenatal diagnosis of anencephaly, BJOG 2006; 113:951-953

At this time a baby diagnosed with Anencephaly has a limited life-span however the immense love for them and the profound impact they have on their family and community is unlimited. Every parent that has carried to term and met their baby has found healing in the memories they created with their child and has found peace in having the opportunity to hold their baby, give them a chance at life, love them, and create a special place for them within their family. Our support page offers outlets for you to talk with other families who have walked this journey and organizations to assist you in celebrating, creating memories, and loving your little one during the sweet time that you have with them.

We have also provided you with information in creating a lasting legacy for your child by enrolling in the Duke University Medical Center Anencephaly Research Study. Our hope along with the researchers at Duke is that this research will lead to more accurate screening, better prevention, treatment, and one day a cure for Anencephaly.

Your child has the opportunity to still live a life of great purpose. The more babies that are carried to term the more opportunities doctors and researchers will have to study, understand, and develop better practices with treating these babies.

All women who are of childbearing age are at risk for conceiving a child with a Neural Tube Defect (NTD). In fact, 95% of women who have conceived a child with a Neural Tube Defect had no personal or family history of Neural Tube Defects.

While every woman is at risk for conceiving a child with a Neural Tube Defect research has shown that there are some factors that put some women at an even higher risk for conceiving a child with a Neural Tube Defect.

Hispanic and Latina women have the highest rate of concieving a child with an NTD because they have lower blood folate levels and are less likely to consume foods fortified with folic acid. According to the CDC they are less likely to have heard about folic acid to know that it can aid in the prevention of NTD birth defects and that they should take vitamins containing folic acid before pregnancy.
Couples with a personal history or family history of NTD.This means you’ve already had a baby with an NTD or someone in your family has had a baby with an NTD. A couple with one child with an NTD has a 4% chance of having another baby with an NTD. A couple with two affected children has 10% chance of having another baby with an NTD. If you have a family history of NTDs, see a genetic counselor to discuss risks of NTDs to your future children.
Women who are obese at the time of conception. Talk with your physician about reaching a healthy weight before getting pregnant.
Women with uncontrolled Diabetes. Taking the proper steps with your physician is important to keeping your diabetes under control before getting pregnant.
Women taking anti-seizure medication
Women who have a diet that is low in the intake of Folic Acid, women who do not consume foods rich in Folate, or women who have the inability to properly absorb Folate. While many foods that we eat are rich in Folate the human body has a difficult time processing and absorbing Folate. Eating foods that are fortified with Folic Acid (the synthetic form of Folate that is more easily absorbed by the human body) or taking vitamins rich in Folic Acid or a Folic Acid Supplement has been shown to aid in the prevention of NTDs.

These known risk factors account for the minority of cases. Nearly 70% of cases are due to factors that remain unaccounted for. Based on the high rate of heritability and high recurrence rate in the siblings of effected individuals compared to the general population it is likely that a substantial proportion of NTDs are associated with genetic factors.

Risk Factors for Conceiving a Child with Anencephaly

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Is Anencephaly Preventable?

How is Anencephaly Diagnosed?

Risks with Carrying to Term

Anencephaly can be detected and confirmed as early as 12 weeks during the pregnancy by ultrasound technology. Ultrasound produces an image of the growing baby and the missing bones of the cranial vault/curve are clearly visible at 12 weeks gestation. (see above images)

Because, of the clear detection of missing bone in an ultrasound Anencephaly is rarely misdiagnosed.

Anencephaly can also be detected in the second trimester of pregnancy by a Maternal Serum Screen which is a simple blood test. It is also known as a “triple screen” or “quad screen” depending on the number of proteins measured in the mother’s blood. For example, a quad screen tests the levels of 4 proteins AFP (alpha-fetoprotein), hCG, estriol, and inhibin-A. If the Mother's test comes back with high levels there is a chance that the Mother is carrying a child with a NTD. Further testing then needs to be done to confirm if the high levels indeed mean the child has a NTD.

Anencephaly can also be detected at birth. It is a clearly visible birth defect.

Carrying to term causes no harm or risk to the Mother and progresses just as any pregnancy would. It is important that the Mother continues to receive adequate Prenatal care throughout the entire pregnancy despite the babies diagnosis. Following through with Maternal Care not only keeps the mother safe and healthy but also provides the doctors and family with added insight into the babies development.

Polyhdramnios is a condition in which the Mother has too much Amniotic Fluid. It occurs in about 1% of pregnancies and is sometimes a discomfort that Moms who carry Anencephalic babies experience. Depending on their cerebrum development or deterioration, some Anencephaly babies have a difficult time swallowing which causes the amniotic fluid to build up. There are no symptoms of having polyhdramnios however the mother may have discomfort such as belly pain and shortness of breath because the excess amniotic fluid presses their uterus against their lungs and other organs.

A doctor can diagnosis Polyhdramnios by using ultrasound and measuring the amount of amniotic fluid. There are two ways to measure the fluid: amniotic fluid index (AFI) and maximum vertical pocket (MPV).

The AFI checks how deep the amniotic fluid is in four areas of your uterus. These amounts are then added up. If your AFI is more than 24 centimeters, you have polyhdramnios.

The MPV measures the deepest area of your uterus to check the amniotic fluid level. If your MPV is more than 8 centimeters, you have polyhdramnios.

Ask your provider if you have questions about these measurements

No. At this time Anencephaly and other Neural Tube Defects are not preventable. It is also very important to understand that conceiving a child with Anencephaly is not the Mothers fault. There is no way for the Mother to prevent Anencephaly from occurring.

It is believed that Anencephaly is caused by a combination of things from Genetics, The Environment, and a Mothers behavior. Every Anencephaly case is different and these factors do not apply to each diagnosis. Pinpointing the exact causes, discovering the best prevention, and exploring treatments and cures is possible as more babies are carried to term. Carrying to term allows doctors to study and understand their development and allows researchers to gather valuable information on anencephalic development, a child’s genetic make-up, and their life. Carrying to term and sharing your wonderful journey also allows thousands of compassionate communities to be made more aware of this common and devastating defect.

Every Women is at risk for conceiving a child with a Neural Tube Defect. While research has yet to provide any guarantee for prevention it has found that women who consume and absorb Folate rich foods, eat foods or take take vitamins fortified with Folic Acid (the synthetic form of Folate) have a lower risk for conceiving a child with Anencephaly or another NTD.

The Importance of Folate and Folic Acid

A Baby with Anencephaly

A baby diagnosed with Anencephaly has an opening at the top of their skull where the Neural Tube did not close. This opening exposes their unprotected brain(cerebrum) to the harsh environment of the womb and acidic amniotic fluid. As the baby grows and develops the cerebrum tissue, since left unprotected, is easily damaged and begins to deteriorate. The rate of deterioration and the amount of damage is different from baby to baby. Some babies do not survive their birth while others live for minutes, hours, days, and in some cases a few years.

The brain is the central piece to a humans nervous system and is the organ that controls all of our functions. Some doctors may state that a baby diagnosed with Anencephaly is in a vegetative state and survives only through the Mother’s Placenta or by spontaneous reflexes from the Brain Stem. However, parents who carry their babies with Anencephaly and Acrania, meet them, and those infants who go on to live for longer periods of time report very different experiences. Many parents give insight to their child’s reactions to sounds, pressure, temperature, movement, light, and voices. More research needs to be conducted on the specific functions of brain/cerebrum tissue and how the loss or damage to it effects or could effect each baby/individual.

Since a baby diagnosed with Anencephaly or Acrania has no cranial vault there is no pressure from the brain. Typically, this effects the babies eye sockets and they tend to bulge out rather than sink in because of the lack of pressure that the brain creates on the eye sockets. A baby that is born with Acrania or Anencephaly has an open skull where cerebrum tissue can be seen. The remainder of their facial features and body are typical to a healthy developing infant.

In some cases other malformations may occur such as cleft palate or club foot.

Image Above is an Illustration of the facial features of a baby born with Anencephaly.

"There is no footprint too small that it cannot leave an imprint on this world."

The Importance of Folate and Folic Acid

Oranges
Strawberries
Raspberries
Black Beans, Kidney Beans, Pinto Beans

Avacado
Peanuts, Almonds, Flax Seed
Celery
Carrots

Agopian, A. J., Sarah C. Tinker, Phillip J. Lupo, Mark A. Canfield, and Laura Mitchell. "Proportion of Neural Tube Defects Known Risk Factors." 2012 Wiley Periodicals (2012): 42-46. Web. 19 Mar. 2015.

"Birth Defects." Neural Tube Defects. March of Dimes, n.d. Web. 08 Apr. 2015.

Blom, Henk J. "Folic Acid, Methylation and Neural Tube Closure In Humans." Birth Defects Research 85 (2009): 295-302. Web. 20 Mar. 2015.

CDC. Spina Bifida and Anencephaly Before and After Folic Acid Mandate --- United States, 1995--1996 and 1999—2000. MMWR. May 7, 2004 / 53(17);362-365.C., Bethany. "Purposeful Gift." Purposeful Gift. Purposeful Gift, 1 Nov. 2014. Web. 08 Mar. 2015.

"Diagnosis." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 20 Oct. 2014. Web. 08 Mar. 2015.

"Effectiveness in Disease and Injury Prevention Use of Folic Acid for Prevention of Spina Bifida and Other NTD." CDC-MMWR 30.40 (1991): 513-16. Web. 24 Mar. 2015.

"EPublications." Folic Acid Fact Sheet. Ed. Tracy Wolff. Office on Womens Health-US Department of Health and Human Services, n.d. Web. 09 Feb. 2015.

"Facts about Anencephaly." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 21 Oct. 2014. Web. 29 Mar. 2015.

"15 Foods High in Folic Acid." Dr Groups Natural Health Organic Living Blog. N.p., 01 Nov. 2011. Web. 09 Apr. 2015.

Jaquier M, Klein A, Boltshauser E., 2006. Spontaneous Pregnancy Outcome after Prenatal diagnosis of anencephaly, BJOG 2006; 113:951-953

Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, et al; for the National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1008-16

"Pregnancy Complications." Polyhydramnios. March Of Dimes, n.d. Web. 08 Apr. 2015.

"Unintended Pregnancies." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 12 Feb. 2013. Web. 09 Mar. 2015.

Williams LJ, Rasmussen SA, Flores A, Kirby RS, Edmonds LD. Decline in the prevalence Of spina bifida and anencephaly by race/ethnicity: 1995-2002. Pediatrics. 005;116(3):580–6

Folate/ Folic Acid is a B vitamin that aids in the creation of new cells. Folate is the natural form that the body makes from consuming folate rich foods such as:

Spinach
Romaine Lettuce
Asparagus
Broccoli

However, Studies have shown that many people do not get the recommended amount of Folate from food alone. In 1998, after an 8 year study on the effects of Folic Acid on Neural Tube Development, the FDA began forifying foods with a synthetic form of Folate called Folic Acid. Since this fortification there has been a 25% decrease in births that resulted in a NTD in the United States. The study showed that women who consumed a Folic Acid Supplement before conception lowered their chance of having a reoccuring birth that resulted in a NTD.

Folic Acid is an important part of preconception health, which refers to the health of women during their reproductive years. If a woman consumes the recommended amount of folic acid before and during early pregnancy, it can aid in the prevention of the worlds leading cause of birth defects , Neural Tube Defects. All women of childbearing age need 400 micrograms (mcg) of folic acid every day. Research indicates that if every woman took the recommended amount of Folic Acid there would be a 50-70% decrease in the occurence of NTD in the United States.

Its important to take Folic Acid everyday because it helps the body create new cells- blood,hair,skin,nails and others. Since 49% of pregnancies in the United States are unplanned its an important part of keeping yourself healthy and aiding in the prevention of a possible NTD for your unborn child.