Short answer · Medically reviewed summary · Last updated: 2026-05-08
Anencephaly is a severe neural tube defect occurring when the upper part of the neural tube fails to close during early fetal development, resulting in the absence of major portions of the brain and skull. Because anencephaly is a terminal condition with no curative treatment, the focus of care shifts entirely to compassionate, palliative support for both the baby and the family. How can I navigate this overwhelming diagnosis? Receiving a diagnosis of anencephaly is profoundly traumatic.
1 people with Anencephaly have shared their first-person experience on this question at DiseaseMaps.
Which advice would you give to someone who has just been diagnosed with Anencephaly?
Advice for the newly diagnosed with Anencephaly, written by people who have lived it. What they wish they had known on day one.
Anencephaly is a severe neural tube defect occurring when the upper part of the neural tube fails to close during early fetal development, resulting in the absence of major portions of the brain and skull. Because anencephaly is a terminal condition with no curative treatment, the focus of care shifts entirely to compassionate, palliative support for both the baby and the family.
How can I navigate this overwhelming diagnosis?
Receiving a diagnosis of anencephaly is profoundly traumatic. Your most important immediate step is to build a circle of support that includes trusted family, friends, and a bereavement counselor. It is essential to communicate your wishes clearly to your medical team regarding the birth plan, including whether you desire comfort measures for your baby immediately following delivery.
How should I build my medical care team?
You need a multidisciplinary team that prioritizes compassionate care. This should include:
- Perinatologists or Maternal-Fetal Medicine specialists: To manage your health and monitor the pregnancy.
- Palliative Care Specialists: To help you create a birth plan that focuses on the comfort of your baby.
- Genetic Counselors: To provide information on the recurrence risk, which is generally 2-5% in future pregnancies.
- Mental Health Professionals: Specifically those experienced in perinatal loss and grief.
Why is community support important?
Connecting with others who have walked this path can reduce the profound isolation that often accompanies an anencephaly diagnosis. At DiseaseMaps.org, 31 members have shared their experiences with anencephaly, offering a space to share stories and find empathy from those who truly understand the depth of this loss.
What should caregivers and family members know?
Caregivers must focus on the mother's physical and emotional health. Because anencephaly is always fatal, the goal of care is to ensure the baby is kept warm, comfortable, and held by their parents during their short life. Documenting this time—through photographs, footprints, or handprints—can be a vital part of the healing process for many families.
Next steps
- Consult with a palliative care team to establish a birth plan that honors your wishes.
- Reach out to organizations like the March of Dimes or local bereavement support groups.
- Join the anencephaly community at DiseaseMaps.org to connect with others who have navigated this journey.
- Speak with a genetic counselor to discuss the causes of anencephaly and implications for future pregnancies.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Anencephaly Overview.
- Orphanet: Neural tube defects and anencephaly.
- Centers for Disease Control and Prevention (CDC): Facts about Anencephaly.
- OMIM (Online Mendelian Inheritance in Man): Anencephaly entry.
defect is heartbreaking and shocking. There is no
other way to describe this terrible news.
Everything you wanted for your babyyour hopes
and wishesare gone with the news of this fatal
defect. Nothing will ever be the same again. Your
pain and grief are very real and very normal. You
will not grieve more if your baby lives longer or less if
your baby dies very soon. Grief is intense and can't
be avoided or lessened. It may, however, be
increased. In our experience, we have never heard
of any parents who carried their babies as long as
they could who regretted that decision, but we have
heard of parents who ended the pregnancy early
and did regret that decision very much.
A carefully planned farewell to your child is the first
step you can take to deal with that grief.
Take the time to prepare for the birth and death of
your baby. Your baby deserves to be welcomed in
love and to be given a dignified farewell. Your child
is a small human being even if he or she cannot live
long.
You can give your baby a name and hold and cradle
your baby in your arms when born even if your baby
is stillborn. You can admire and cherish your baby. If
you cover the opening on the head with a cap or hat,
you can focus fully on your child.
Don't forget to take photos and footprints; these will
be priceless memories.
Unfortunately, burial or cremation costs are not
covered expenses in the USA for our babies.
But having even a simple memorial ceremony is an
opportunity to say a farewell to your baby. The pain
felt at the time is very intense, but you will feel that
pain no matter what. For closure or relief of grief, it
can be important to have this ceremony and some
place to feel your sadness. This can be a burial
place, a memorial garden, even a small memory box
in your home where you put photos or other things
that remind you of your baby. This is an official
testimony to your child's reality because your baby is
a real human being despite the deformity. If your
baby is cremated, you may wish to pick a special
place to scatter the ashes, a place of comfort and
meaning for you.
(Source: http://www.anencephaly.info/pdf/anen-info_2006-USA.pdf )
Posted Aug 16, 2017 by Lisa 1685
