If you have just found out through prenatal testing that your baby has anencephaly or may have anencephaly and are looking for more information, the Genetic Support Foundation is a good starting point.
There are other important resources out there, including your doctor and genetic counselor. We have also compiled a list of resources that can provide you with additional information and support.
After reviewing the information below, if you have a question that you are having difficulty finding an answer for, please feel free to contact us.
Anencephaly is one of the most severe forms of NTDs and affects approximately 1 in 4,859 babies born (1). Anencephaly occurs when the upper part of the neural tube that forms the brain does not close completely. Most babies with anencephaly are stillborn or pass away shortly after birth. There is no cure or treatment for anencephaly.
Neural tube defects (NTDs), including anencephaly, are often sporadic, meaning we don’t see anyone else in the family with this condition. However, NTDs can cluster or run in some families. NTDs are what we call a multifactorial disorder. Multifactorial disorders are caused by both genetic and environmental factors; the genetic factors typically involve multiple genes or instructions. We don’t know what all of the environmental factors are at this point. We do know that decreased levels of folic acid may increase the chances of neural tube defects, therefore, it is recommended that women take 400 micrograms of folic acid 1 month prior to pregnancy and throughout the first trimester to decrease the chances of conditions such as anencephaly. There are other environmental factors that can increase the chance of neural tube defects, as well.
For families that choose to continue a pregnancy when anencephaly has been diagnosed, many have questions about what will happen. What are the chances that the baby will make it to term, survive the delivery, etc. A study done in 2006 (2) looked at the outcome of 211 such pregnancies. Of those, 7% of the babies died in utero during the pregnancy, 20% were stillborn, and 72% were born alive.
Of the 153 babies that were born alive, 67% passed way within the 1st day of life (27% within the 1st hour and 40% within 2-24 hours), 25% passed away within 2-5 days, 3% passed away within 6-9 days and 4% passed away within 10-28 days. The longest a baby survived in this group was 28 days.
The Genetic Support Foundation has put together information about all of your options upon receiving a prenatal diagnosis, including continuing the pregnancy, placing the baby for adoption and ending the pregnancy.
Please click HERE to read about options after receiving a prenatal diagnosis.
Although anencephaly is considered to be uniformly lethal in the newborn period, meaning that all babies with anencephaly will pass away at some point fairly shortly after they are born (longest survival in one study was 28 days (2)), many individuals and couples decide to continue their pregnancy.
There are many different reasons that parents choose to continue their pregnancy after a diagnosis of anencephaly:
- Opposed to ending the pregnancy for religious reasons
- Opposed to ending the pregnancy for other reasons
- To see and touch the baby and have a bonding experience
- To be able to take pictures of the baby
Regardless of the reason, there are support services available to help families through this process, namely, perinatal hospice. Many hospitals offer perinatal hospice which helps families on their journey through pregnancy, birth, and death, honoring the baby as well as the baby’s family. Learn more about perinatal hospice.
1.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.
2. Jaquier M, Klein A, Boltshauser E. Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly. BJOG. 2006;113(8):951-3.
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