Acrania is a rare and fatal fetal abnormality where the top of the skull fails to form. It can be diagnosed during ultrasound and often accompanied by other birth defects. Parents have options for managing the pregnancy, including termination or carrying to term with medical supervision.
Acrania is a highly unusual and fatal fetal abnormality in which the top of the skull fails to form. It can be diagnosed during a routine ultrasound evaluation and is often accompanied by a number of other birth defects. This can lead to miscarriage or stillbirth because the fetus cannot develop normally, although in some cases the pregnancy can continue to full term without intervention. Parents facing a fetal diagnosis of acrania have several options for managing the pregnancy that they can discuss with their care providers.
In fetuses with this condition, the facial bones develop normally, as does the spine, but the top of the skull never appears. This may be the result of problems with cell migration that occur early in fetal development. It is also associated with amniotic bands, tough fibrous tissue that can interfere with fetal development by wrapping around the fetus and constricting it as it grows. Acrania is not preventable and does not occur due to anything the mother did or did not do during pregnancy.
A variety of other abnormalities can be seen with acrania. Many fetuses with this condition also have encephaly, in which part of the brain is missing along with the skull and scalp. Cleft lip, heart defects, and gastrointestinal abnormalities may also occur. Acrania alone is invariably fatal, and these other defects may go undiagnosed unless the parents specifically request an autopsy.
Very few cases of this condition have been documented. If the ultrasound makes a diagnosis of acrania likely, your doctor may order some additional tests to confirm. Doctors want to be absolutely certain that this birth defect is present before offering a definitive diagnosis. Once diagnosed, parents have several options. Your doctor may recommend termination, as pregnancy is not viable. Allowing the pregnancy to continue could put the mother at risk of infection and other complications that could make it difficult to get pregnant in the future.
Mothers may also choose to carry the pregnancy to term under careful medical supervision and deliver normally. Some families may prefer this, for a variety of reasons, and support is available for mothers who carry fetuses with birth defects that are ultimately fatal. It may be helpful to work with a hospital that is familiar with handling such cases and can provide appropriate care during labor and delivery. This may include working with religious officiants, family, and friends to create a labor and delivery plan that fits the parents’ needs.
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