Facts about Anencephaly

Anencephaly is a serious birth defect in which a baby is born without parts of the brain and skull.
It is a type of neural tube defect (NTD). These are birth defects that happen during the first
month of pregnancy, usually before a woman knows she is pregnant. As the neural tube forms
and closes, it helps form the baby’s brain and skull (upper part of the neural tube), spinal cord,
and back bones (lower part of the neural tube).

Anencephaly happens if the upper part of the neural tube does not close all the way. This often
results in a baby being born without the front part of the brain (forebrain) and the thinking and
coordinating part of the brain (cerebrum). The remaining parts of the brain are often not covered
by bone or skin.

Almost all babies born with anencephaly will die shortly after birth. CDC estimates that each
year, about 1 in every 4,859 babies in the United States will be born with anencephaly.1

Women can take steps before and during pregnancy to reduce the risk of having a baby born with
birth defects. Such steps include taking a daily multivitamin with folic acid (400 micrograms),
not smoking, and not drinking alcohol during pregnancy.

Causes and Risk Factors

Like many families affected by birth defects, CDC wants to find out what causes them. Research
gives us important clues about things that might raise or lower the risk of having a baby affected
by birth defects, such as anencephaly. Those clues help us develop sound public health policies
for prevention.

CDC works with many other researchers to study risk factors that can increase the chance of
having a baby affected by anencephaly. Scientists believe that many factors such as genes,
behaviors, and things in the environment are involved. CDC researchers have reported important
findings about some factors that affect the risk for anencephaly:
  Low intake of folic acid before getting pregnant and in early pregnancy increases the risk
of having a pregnancy affected by neural tube defects, including anencephaly.2
 There has been a 27% decline in pregnancies affected by nueral tube defects (spina bifida
and anencephaly) since the United States began fortifying grains with folic acid.2
 Babies born to Hispanic mothers are at an increased risk for anencephaly.3 Reasons for
the increased risk among Hispanic mothers are not well understood.

CDC continues to study birth defects like anencephaly and how to prevent them. If you are
pregnant or thinking about becoming pregnant, talk with your doctor about ways to increase your
chance of having a healthy baby.

Diagnosis

Anencephaly can be diagnosed during pregnancy or after the baby is born.

During Pregnancy

During pregnancy, there are screening tests (prenatal tests) to check for birth defects and other
conditions. Anencephaly would result in an abnormal result on a blood or serum screening test or
it might be seen during an ultrasound (which creates pictures of the body).

After the Baby is Born

In some cases, anencephaly might not be diagnosed until after the baby is born. Anencephaly is
immediately seen at birth.

Treatments

There is no known cure or standard treatment for anencephaly. Almost all babies born with
anencephaly will die shortly after birth.

References

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. 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.
3. 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.
2005;116(3):580–6.
Anencephaly: A neural tube defect (NTD) that occurs when the cephalic (head) end of the
neural tube fails to close, usually between the 23rd and 26th days of pregnancy, resulting in the
absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born
without a forebrain, the largest part of the brain consisting mainly of the cerebrum, which is
responsible for thinking and coordination. The remaining brain tissue is often exposed; it is not
covered by bone or skin.

Infants born with anencephaly are usually blind, deaf, and unconscious. Although some
individuals with anencephaly may be born with a rudimentary brainstem, the lack of a
functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex
actions such as respiration (breathing) and responses to sound or touch may occur.

The disorder is one of the most common disorders of the fetal central nervous system.
Approximately 1,000 to 2,000 babies are born with anencephaly each year in the U.S. The
disorder affects females more often than males.

There is no cure or effective treatment for anencephaly and the prognosis (outlook) for affected
individuals is very poor. Most infants with anencephaly do not survive infancy. If the infant is
not stillborn, then he or she will usually die within a few hours or days after birth.

Anencephaly can often be diagnosed before birth through screening of the mother's blood for the
level of alpha-fetoprotein (AFP) and an ultrasound examination.

The addition of ample folic acid to the diet of women of child-bearing age significantly reduces
the incidence of neural tube defects. Therefore it is recommended that all women of child-
bearing age consume 0.4 mg of folic acid daily.

All women who could possibly become pregnant should consume 400 micrograms (400 mcg) of
synthetic folic acid daily from vitamin supplements and/or fortified foods in addition to eating
food folate in a healthful diet. This will reduce the risks not only for anencephaly but also for
spina bifida, another common and major type of neural tube defect.

SUMBER : http://www.medicinenet.com/script/main/art.asp?articlekey=2245
Anencephaly

Important
It is possible that the main title of the report Anencephaly is not the name you expected.

Disorder Subdivisions

 None

General Discussion

Summary
Anencephaly is a term that refers to the incomplete development of the brain, skull, and scalp
and is part of a group of birth defects called neural tube defects (NTD). The structure which will
become the neural tube is supposed to fold and to close together (to form a tube) during the third
and fourth weeks of pregnancy. From this neural tube, the brain and spinal cord of the embryo
develop. Neural tube defects happen when the neural tube does not close as expected.
Anencephaly occurs when the end of the neural tube that would have developed into the brain
does not close properly, resulting in the failure of the development of major portions of brain,
skull and scalp. Other neural tube defects, such as spina bifida, form when the neural tube does
not close properly in a different part of the neural tube.

Infants with anencephaly are born without the front part of the brain, (forebrain) and the thinking
and coordinating part of the brain (cerebral hemispheres and cerebellum). Most of the time the
remaining brain tissue may be exposed, without skull or scalp to cover and protect it. Although
reflex actions such as breathing and responses to touch or sound may occur, gaining
consciousness is not possible. Usually infants with anencephaly do not survive more than a few
days or weeks.

Introduction
Meroanencephaly and holoanencephaly are terms refer to the extent of the cranial defect,
however, they typically are not used in clinical descriptions and are not predictive of severity of
the condition. The term acrania has been used interchangeably with anencephaly in some parts of
the world but that practice is discouraged as it confuses two very different conditions.

SUMBER : http://www.webmd.com/brain/anencephaly-10725
Anencephaly (SUMBER : http://www.nlm.nih.gov/medlineplus/ency/article/001580.htm)
Anencephaly is the absence of a large part of the brain and the skull.
Causes
Anencephaly is one of the most common neural tube defects. Neural tube defects are birth
defects that affect the tissue that grows into the spinal cord and brain.
Anencephaly occurs early in the development of an unborn baby. It results when the upper part
of the neural tube fails to close. Why this happens is not known. Possible causes include
environmental toxins and low intake of folic acid by the mother during pregnancy.
Anencephaly occurs in about 1 out of 10,000 births. The exact number is unknown, because
many of these pregnancies result in miscarriage. Having one infant with this condition increases
the risk of having another child with neural tube defects.
Symptoms
 Absence of the skull
 Absence of the brain (cerebral hemispheres and cerebellum)
 Facial feature abnormalities
 Heart defects
Exams and Tests
A pregnancy ultrasound is done to confirm the diagnosis. The ultrasound may reveal too much
fluid is in the uterus. This condition is called polyhydramnios.
Other tests that may be done on the pregnant mother:
 Amniocentesis (to look for increased levels of alpha-fetoprotein)
 Alpha-fetoprotein level (increased levels suggest a neural tube defect)
 Urine estriol level
A pre-pregnancy serum folic acid test may also be done.
Treatment
There is no current therapy. Talk to your doctor about care decisions.
Outlook (Prognosis)
This condition usually causes death within a few days.
When to Contact a Medical Professional
A health care provider usually detects this condition during routine prenatal testing and
ultrasound. Otherwise, it is recognized at birth.
If anencephaly is detected before birth, further counseling will be needed.
Prevention
It is important for women who may become pregnant to get enough folic acid.
There is good evidence that folic acid can help reduce the risk of certain birth defects, including
anencephaly. Women who are pregnant or planning to become pregnant should take a
multivitamin with folic acid every day. Many foods are now fortified with folic acid to help
prevent these kinds of birth defects.
Getting enough folic acid can reduce the chance of neural tube defects by 50 percent.
For specific recommendations, see folic acid (folate).
Alternative Names
Aprosencephaly with open cranium
References
Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman,
RM, Behrman RE, St. Geme JW III, Schor NF, Stanton BF, eds.Nelson Textbook of Pediatrics.
Apakah anencephaly itu?

Anencephaly adalah kecacatan lahir bawaan (dari kata Latin congenitus “terlahir
dengan”). Anencephaly terjadi pada tahap awal terjadinya kehidupan di dalam
kandungan. Arti kata anencephaly sendiri adalah “tanpa adanya encephalon”,
encephalon merupakan kumpulan pusat saraf otak. Pengartiannya ini tidak
sepenuhnya benar. Walaupun seorang bayi anencephaly dilahirkan tanpa kulit
kepala, tempurung kepala vault of cranium, meninges, hemisphere otak dan
cerebellum, biasanya bayi terlahir dengan sebagian batang otak cerebral trunk,
brainstem (Müller 1991).

Hampir 75% bayi anencephaly yang lahir pada waktunya, selamat pada saat
persalinan. Harapan hidup untuk bayi yang selamat setelah lahir hanyalah beberapa
jam atau beberapa hari saja (Jaquier 2006).

Kira-kira 20% bayi anencephaly menderita kecacatan bawaan lainnya (Botto 1999).

Tingkat kejadian:

Sekitar satu anak setiap 1000 kelahiran (Eropa Tengah), (catatan redaksi: menurut
laporan Kompas tertanggal 30.Januari 2009, di Indonesia diperkirakan angka rata-
rata ini lebih tinggi). Tingkat rata-rata ini dapat berubah-ubah tergantung
populasinya. (Sadler, T.W. 2005)

Perwujudannya:

Anencephaly tergolong rumpun cacat bumbung saraf atau neural tube defect (NTD).
Cacat bumbung saraf ini merupakan cacat bawaan pada pembentukan yang terjadi
antara 20 sampai 28 hari setelah pembuahaan sel telur (Sadler 1998). Sel-sel plat saraf
(neural plate) membentuk sistim saraf pada janin. Pada pertumbuhan yang normal,
sel-sel tersebut saling melipat satu sama lainnya untuk membentuk yang dinamakan
bumbung atau tabung saraf (neural tube), yang selanjutnya membentuk menjadi
tulang punggung dan urat sarafnya. Setelah beberapa transformasi (perubahan
bentuk), kutup utama (superior pole) akhirnya terbentuk menjadi otak. Pada kasus
NTD, bumbung saraf ini gagal menutup secara sempurna. Anencephaly terjadi bila
ujung tabung saraf ini gagal menutup. Janin dengan penyakit ini terlahir tanpa kulit
kepala atau cerebellum. Juga tanpa meninges, kedua belah hemisphere otak dan
tempurung kepala (vault of cranium), akan tetapi bagian dari batang otak biasanya
tetap ada. Sisa jaringan otak terlindung oleh selaput yang tipis saja. Kemungkinan
bayinya buta dan tidak ada pergerakan reflek atau hanya beberapa saja yang
berfungsi. Kira-kira ¼ bayi anencephaly meninggal pada saat dia dilahirkan,
sedangkan yang selamat pada saat dilahirkan dapat bertahan hidup selama beberapa
jam atau beberapa hari (Jaquier 2006).

Apa yang menyebabkan anencephaly?

Sebab anencephaly masih belum diketahui dengan pasti. Ada kemungkinan

disebabkan oleh gabungan faktor genetis (keturunan) dan pengaruh lingkungan (
Sadler 2005 ). Yang telah diketahui adalah, bahwa dengan mengkonsumsi tambahan
vitamin asam folat (folic acid ) kemungkinan akan terjadinya bayi anencephaly dapat
dikurangi. Beberapa obat-obatan ( pil KB, valproic acid, obat antimetabolik dll. )
dapat menurunkan kadar asam folat dalam tubuh kita, dengan demikian dapat
meningkatkan risiko akan bayi yang dikandung menderita anencephaly ( Sadler, 2005
). Kelainan chromosomal (keturunan), mutasi single-gene dan akibat teratogenic telah
teridentifikasi pada kurang dari 10 % bayi anencephaly ( Holmes 1976 ).

Harapan hidup:

25% bayi anencephaly yang bertahan hidup sampai berakhirnya kehamilan,

meninggal pada saat persalinan; 50% mempunyai harapan hidup dari beberapa
menit sampai dengan 1 hari; 25% lainnya dapat bertahan hidup sampai dengan 10
hari (Jaquier 2006)

Dapatkah anencephaly dicegah?

Sejak beberapa waktu, ilmu aetiology tentang kecacatan bumbung saraf (NTD)
menyebutkan bahwa kelainan ini terpengaruh oleh gabungan faktor pola makan dan
lingkungan. Hasil penelitian medis menyatakan bahwa dengan mengonsumsi vitamin
asam folat (Folic Acid) dapat mengurangi risiko terjadinya NTD. Seandainya semua
wanita pada usia subur mengonsumsi 0,4 mg vitamin asam folat setiap harinya
sebelum hamil dan selama paling tidak sampai kehamilan 3 bulan pertama, maka
tingkat kasus potensial terjadinya anencephaly dapat diturunkan hingga 50 – 70%
(Ceizel and Dudas, 1992).

REFERENSI :
Müller F, O'Rahilly R, 1991. Development of Anencephaly and Its Variants. The
American Journal of Anatomy 190:193-218 (1991)
Jaquier M, Klein A, Boltshauser E., 2006. Spontaneous pregnancy outcome after
prenatal diagnosis of anencephaly, BJOG 2006; 113:951-953
Botto LD et al, 1999. Neural-Tube Defects. N England J Med 341:1509-1519
Sadler TW, 1998. Mechanisms of neural tube closure and defects. Ment Retard Dev
Disabil Res Rev 1998;4:247-53
Holmes LB, Briscoll SG, Atkins L. 1976. Etiologie heterogeneity of neural-tube
defects. N Engl J Med 1976;294:365-369
Czeizel AE, Dudas I. 1992. Prevention of first occurence of neural tube defects by
periconceptional vitamin supplementation. N Engl J Med 327:1832-1835
Sadler TW. 2005. Embryology of Neural Tube Development. American Journal of
Medical Genetics Part C 135C:2-8