Anencephaly occurs in just three of every 10,000 live births in the United States.
There is no cure nor medical intervention for the neural tube birth defect.
Treatment for babies born with the fatal disorder is supportive; parents are instructed to keep the baby warm and protect the baby’s exposed tissue.
Half of babies born with anencephaly die within 10 days of birth. In very rare cases anencephalic babies live more than a month.
Dr. Michael Barsoom, director of Maternal-Fetal Medicine at Alegent Health Bergan Mercy Medical Center has handled dozens of babies born with anencephaly and related neural tube defect, spina bifida. He said giving parents the grim news that their unborn child has anencephaly is never easy.
“It’s difficult,” the doctor said. “The way I do it is I don’t sugar coat it. For me I think it’s easier if the parents hear it straight out and then I explain what’s going on. And then I’ll give them some time to grieve and then we’ll talk again.”
Finding good support from other families and researching this rare disorder can often help, he said.
“I’ve had several patients with this condition,” Dr. Barsoom said. “So when I make a diagnosis of ancenphaly, I always ask if the parents want to speak to another family that had a child with the disorder. I think it’s easier to talk to a parent. I can answer the medical questions and tell them the baby isn’t going to survive, but having someone who had a baby with this and has been through this is better.”
Anencephaly results when the neural tube, which forms the head and the spinal cord of the baby, fails to close properly somewhere between 16 and 26 days after conception.
With anencephaly, the top of the tube fails to close which leads to absence of major portions of the brain, skull and scalp, leaving the existing portion of the brain often exposed.
Most parents when presented with the difficult diagnosis are faced with a decision: terminate the pregnancy or carry the baby to term, knowing the baby will likely not survive. Dr. Barsoom said the percentage of mother’s that decide to go full term or terminate the pregnancy varies regionally and by religious beliefs. He couldn’t recall a case in Nebraska and Iowa he diagnosed where the parents did not choose to go full term.
Diagnosis of anencephaly can be made as early as 10 to 12 weeks on an ultrasound. Causes of the disorder are harder to diagnose. Neural tube defects such as anencephaly are a multifactorial birth defect, meaning that they are caused by genes interacting with environmental factors.
Dr. Barsoom said risk factors include having previously had a child with anencephaly, mother’s with diabetes or elevated blood sugars, seizure disorders, foly deficiency and presence of the methylenetetrahydrofolate reductase mutation (MTHFR).
Dr. Barsoom points to MTHFR as a hidden genetic mutation most mothers aren’t even aware they carry. While he wasn’t aware of what percentage of mother’s with MTHFR defect are faced with a greater risk of neural tube defects, he did say a recent study revealed 80 percent of mothers who had babies born with either spinal bifida or anencephaly tested positive for that mutation.
Other studies have shown mothers who take a folic acid – a B vitamin that promotes healthy new cell growth – prior to and during pregnancy may reduce the risks of anencephaly. Supplemental folic acid vitamins are the biggest counseling point Dr. Barsoom tells parents, whether they are pre-disposed to a neural tube defect or not. He suggests any woman who is sexually active take 400 micrograms of folic acid daily. If a parent has had a child with the condition, or has any other of the risk factors, he recommends four milligrams daily.
“The American diet doesn’t have enough folic acid in it. So you have to supplement if you are thinking about getting pregnant,” Dr. Barsoom said.