An infant with anencephaly that is missing a large portion of the brain, skull and scalp.

Anenecephaly

What is anencephaly?
Anencephaly (an-en-sef-ul-ee) is a lethal (results in death) birth defect in which the baby is missing a large portion of the brain as well as skull and scalp (see illustration). A large percentage of these babies will be stillborn (die before birth) or spontaneously aborted (miscarriage). Those that are born alive usually die within hours or days. Anencephaly is classified as a neural tube defect (NTD). The neural tube is the tissue of an embryo (term used to describe a developing baby prior to the 8th week after conception) that becomes the brain, spinal cord and the bones that surrounding the brain and spinal cord (skull and spinal column). Very soon after conception, during the third or fourth week, the neural tube has developed and the spinal column (bones) closes. With anencephaly the "cephalic" or head end of the neural tube does not close, resulting in the absence of most of the brain, skull, and scalp. The brain tissue that may be present at birth, the brain stem, will provide the baby with rudimentary functions such as breathing and responses to sound or touch. Anencephalic babies, however, have no consciousness or thinking ability. Anencephaly occurs in approximately 1 in 1000 births and females are affected five times more frequently than males. Anencephaly is usually an isolated birth defect. Facial features are generally present but may look somewhat distorted due to the skull disorder. The cause of anencephaly is unknown. There is a slightly increased risk for women who have diabetes and women who have taken valproic acid for a seizure disorder before conception and/or during the first trimester.

Prenatal diagnosis of anencephaly
The maternal serum alpha-fetoprotein (AFP) is a blood test to screen for neural tube defects (NTD). The level in the blood of alpha-fetoprotein will vary depending on the gestational age of the fetus. An abnormally high level should be investigated for a NTD. Your obstetrician will most likely refer you to a specialist that handles high-risk pregnancies. These doctors are called perinatologists. The perinatologist is a physician who specializes in the care of the mother and fetus in complicated or potentially complicated pregnancies. They balance the care of the mother and baby considering the risks and benefits to each.

One of the tests that may be recommended to investigate after an abnormal AFP is ultrasound. This test uses high-frequency sound waves and a computer to create images of the anatomy of the fetus. Ultrasound can provide us with a picture of the general anatomy, blood flow in the heart, some of the blood vessels and umbilical cord blood flow, placental placement, cord location, the amount of amniotic fluid, and cervical length. It is non-invasive and a very useful tool to assist health care providers in evaluation of the fetus.

Amniocentesis is another test that may be recommended. This test is done at 16 to 18 weeks' gestation. Before amniocentesis is attempted an ultrasound is done to estimate gestational age, determine the position of the fetus and placenta, and determine if enough amniotic fluid is present. This is an invasive test used to determine chromosomal disorders. Amniocentesis involves inserting a needle through the abdominal and uterine wall of the mother, into the amniotic sac. A sample of the amniotic fluid is removed and sent to a genetics lab. The genetics lab will exam the amniotic fluid for fetal cells, which are grown in a culture, to determine if a genetic disorder exists. Results take approximately 10 to 14 days.

How does anencephaly affect my baby?
Anencephaly is a uniformly fatal birth defect. Approximately 75 percent of these infants are stillborn. Some, or approximately 25 percent, may be born alive but will survive only hours to days and rarely weeks. If the baby is carried to term, polyhydramnios (an excessive volume of amniotic fluid) is a common complication. This can become uncomfortable for the mother. If breathing becomes difficult due to the pressure of the enlarged uterus pushing on the diaphragm, some amniotic fluid can be removed. This is a temporary solution however, as the fluid volume will return to the previous amount within approximately one week (depending on the amount of fluid removed). Preterm labor is a common problem, as is the pregnancy going postterm. There is an increased risk of abnormal fetal presentations at delivery.

How does anencephaly affect the pregnancy?
The diagnosis of anencephaly may be suspected if the alpha fetoprotein level is elevated. The diagnosis is confirmed by a targeted ultrasound performed by a tertiary care facility qualified to make a definitive diagnosis of anencephaly. If other anomalies are noted, amniocentesis may be offered to evaluate the chromosomes. The diagnosis of anencephaly in the fetus poses a slightly increased medical risk to the mother. Because of this fact and the fact that this anomaly is uniformly fatal for the baby, the treatment options offered are termination of the pregnancy or palliative care at the time of birth. One of the risks for the mother is development of polyhydramnios or an increased volume of amniotic fluid. This can be uncomfortable to the point of interfering with breathing. Polyhydramnios may increase the risk for preterm labor. The labor and delivery process is sometimes complicated by a failure of the cervix to dilate and the fetal presentation may not be head down which makes for a more complicated vaginal delivery and contributes to the dysfunctional labor or the failure of the cervix to dilate. There is a slightly increased risk of postpartum hemorrhage and placental abruption (placenta pulling away from the uterine wall), which also carries a risk of hemorrhage. Each of these risks, while low, is slightly higher than is associated with a normal pregnancy.

How is anencephaly treated?
Anencephaly is a uniformly fatal diagnosis for the baby. Treatment is aimed at comfort for the baby and support for you. As the parent(s), you will decide how much time you would like to spend with your baby whether he/she is born alive or not. You may spend as much or as little time as feels right for you as a family. You can bathe and dress your baby. Pictures of you and your baby are encouraged as well as videotaping. We can provide you with foot and handprints as well as a lock of the baby's hair as mementos. Some anencephalic babies, if born alive, will be able to eat from a bottle and/or go to breast. If you desire, we can offer the baby a bottle or the option of breast-feeding, if you so desire. Many of these babies will not have the sensation of hunger and do not have an interest in eating. Most will not have a suck/swallow reflex or may have a very uncoordinated reflex, which can cause them problems with breathing while they attempt to eat. Should you want your baby fed, and are not successful, you can discuss with your physician other options.

Most of these babies do not appear to be in any type of pain or discomfort. The movement and responses they have are to external stimulation. However if there were concern that this was an issue, options for pain treatment should be discussed with your physician.

If your baby is born after 20 weeks' gestation, you will need to make arrangements with a funeral home for proper care of the body. This is something you can do even before the baby is born. All arrangements for ceremonies and burial can be taken care of before the baby is born which, for some, is a less stressful time because you will not be recovering from delivery.

Will I be able to help care for my baby?
Yes! Please ask your nurse and/or your baby's nurse about ways to interact with and care for your baby. The time you have with the infant will be important to make as many memories as you would like. We encourage families to take lots of pictures and movies, have extended family and/or other siblings there to hold the baby, take a locket of hair, handprints and footprints. If you planned to breast-feed your baby, you can discuss this with a lactation consultant while you are still in the hospital. A lactation consultant can assist in answering your questions about drying up your milk as well.

Can my baby go home?
If your baby survives until the time when you are being discharged, and you have a desire to take your baby home with you, this can be arranged. Arrangements can be made with a hospice care agency to come to the home to assist you in whatever way(s) you would need them. However, it is up to you. If you do not want to take the baby home, he/she can stay in the hospital and we would continue to provide the care and you would be able to visit whenever you desire.

What about future pregnancies?
For future pregnancies you have a 2 to 3 percent risk of a recurrence of a neural tube defect. The NTD may not be anencephaly but another type of NTD. Folic acid supplementation has been shown to be effective at lowering the incidence of NTD. The recommended dosage of folic acid supplementation is 400 mcg per day for any female of reproductive age. For a woman who has had a previous child with a NTD and is planning a future pregnancy the recommended daily supplement dosage is 4 mg of folic acid. This supplement should be started at least three months prior to conception.

What about organ donation?
Only rarely are anencephalic babies able to donate organs. The reason for this is the law is specific about who is able to be a donor. There is something know as the "Dead Person Rule" which means only those who have been declared dead may be used to harvest organs. This definition of dead includes "brain dead". Typically a "brain dead" person will have organs that are healthy enough to harvest and organs that will function well. The criteria used to define "brain death" cannot usually be applied to children under 7 days old. Anencephalic infants, despite having severe brain deformities due to lack of development, are not by definition "brain dead."  As the rudimentary function of the brain stem slowly loses its function, other organs may cease to function or become damaged prior to the heart failure. Therefore these infants would only rarely be able to donate organs.