Anencephaly is one of the most serious birth defects that can develop in a baby. Although rare, babies with anencephaly are born without parts of the brain or the skull. Because the brain is so critical to basic life functions, most babies with this condition do not live very long after birth.
Researchers estimate that about one in every 10,000 children is born with anencephaly. The following information can help you better understand this condition, including the risk factors, causes, diagnosis, and care needs for infants.
Anencephaly Overview — Causes, Risk Factors, and Prevention
Anencephaly is a neural tube defect. The neural tube is an early part of embryonic development, helping to form the brain and spinal cord.
With anencephaly, the neural tube does not properly close all the way. This can affect the formation of the brain and skull, causing parts of it to be missing. Specifically, the forebrain and cerebellum are often not formed, and much of the brain is exposed. These parts of the brain perform many critical life functions, including emotion, vision, hearing, cognition, and movement coordination.
Like many birth defects, medical researchers and physicians still do not understand the causes of anencephaly. Potential risk factors may include genetics, chromosomal defects, environmental exposure, medications, or malnourishment during pregnancy.
One of the wider studied genetic factors is related to the MTHFR gene, which is essential to processing vitamin B9, or folate. This gene provides the instructions for making folate, and a problem with this gene can lead to a deficiency which can, in turn, increase the risk of neural tube defects such as anencephaly.
Although there is no way to ensure the prevention of anencephaly, pregnant mothers are urged to eat a nutritious diet, take folic acid, avoid drugs and alcohol, and discuss any medications with their obstetrician.
Diagnosis, Treatment, and Caring for a Newborn with Anencephaly
Doctors will usually identify anencephaly through prenatal testing or during a routine ultrasound. Types of tests include:
Blood testing: A blood test performed during the early weeks of pregnancy known as a quad screen can measure four indicators of neural tube defects. If a baby has anencephaly, certain protein markers will be elevated.
Amniocentesis: This test measures a sample of amniotic fluid, which surrounds the baby in the womb. This can check for the same elevated levels of protein that may indicate a neural tube defect such as anencephaly.
Ultrasound: Ultrasound uses a computer to form images from soundwaves. This lets providers see vital organs as they develop in the baby. Anencephaly and other neural tube defects can be detected visually or by observing blood flow.
A health care provider, such as the delivering physician, can then confirm diagnosis of anencephaly at birth. Typically, parts of the skull will be missing and/or the baby will have a flat top of the head. In rare cases, this condition will be diagnosed visually at birth if it was not detected during pregnancy.
Currently, there is no cure for anencephaly, there is no effective long-term treatment and the condition cannot be treated with pediatric home care. Nearly every baby born with this condition dies shortly after birth. The longest recorded case of an infant living with this defect is 28 months.
The goal for treating babies with anencephaly is to provide supportive care. This means that care providers will generally work to keep the baby as comfortable as possible and free from distress. Grief management and counseling is also a very common step to help the parents and other family members cope with this condition.
As babies with anencephaly typically do not leave the hospital after they are born, parents do not generally seek pediatric home care for this birth defect.
Contact Care Options for Kids for Home Health Care in Florida
It can be hard to balance your time between work, home, and caring for a child. That’s why our team of skilled professionals at Care Options for Kids is here to help. We have been enforcing precautionary measures and following the Centers For Disease Control (CDC) guidelines for COVID-19 to ensure the safety and health of our clients and employees.
Our home health care services offer support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.
If you or a loved one are considering Pediatric Home Health Care Services in Florida, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.