Anencephaly Awareness: Understanding And Screening For This Birth Defect


If you are currently expecting a child, you may find the various health screenings overwhelming. However, these tests are important for you and your unborn baby's health.  Although affecting 1 in every 4,859 babies in the United States each year, anencephaly became a household name due to the story of Baby Shane.  After the Haley family went in for routine testing, they discovered their child would die from anencephaly immediately after birth. While many doctors suggested aborting their unborn baby since survival after birth was impossible, the Haleys created a Bucket List for Shane. After filling the pregnancy with baseball games and trips to museums and zoos, Baby Shane passed away just a few hours after birth. Of course, this is not a decision every family can make. Using this guide, you can understand the condition, its various risk factors, and the different screenings for anencephaly.

Anencephaly 101

Anencephaly prevents the upper part of the neural tube from closing, which stops the development of the front part of the brain. In most cases, a baby born with anencephaly will have the majority of their brain exposed.

While babies can survive inside the womb with anencephaly, they are not able to stay forever and will die shortly after birth.  Causes are unknown, but there are certain lifestyle choices that can help prevent anencephaly and other birth defects.  

Prevention

Your overall health and wellness is key to a pregnancy without birth defects or other complications. Following a healthy diet and supplementing with prenatal vitamins will lower your risk of anencephaly.

Sufficient folic acid is imperative for preventing neural tube defects in your unborn child. Green leafy vegetables, beans, and fresh orange juice are excellent sources of folic acid. You can also choose foods fortified with folic acid such as enriched flour, rice, pasta, and cereal. Along with a healthy diet, consider taking a multivitamin that contains 400 micrograms of folic acid.

It is important to note that a healthy lifestyle and proper prenatal vitamins will not guarantee a healthy pregnancy. Consult an obgyn at a clinic like Women's Clinic of Johnson County for further preventative measures and treatment for your specific needs.

Screenings

After confirming your pregnancy, your doctor will schedule a series of tests. While each test is necessary for specific reasons, most are able to diagnose potential neural tube disorders or other birth defects.  In the first trimester, your obgyn will order the following tests:

  • Maternal Blood Screen – This simple blood test measures two proteins for chromosomal disorders. If HCG, or  human chorionic gonadotropin, and PAPP-A, or pregnancy associated plasma protein A, are abnormally high or low, your unborn baby is at risk for certain birth defects.
  • Ultrasound – Traditional ultrasounds are able to diagnose birth defects early in the first trimester by measuring fluid levels around your baby's neck. Higher levels of fluid may indicate a serious disorder.

During the second trimester, the following tests and screenings are necessary:

  • Maternal Serum Screening – Also known as a Quad Screen, the maternal serum screening offers a more definite diagnosis of possible anomalies in your unborn baby's development.  The test measures the proteins in your blood to determine if there are any issues affecting the unborn child's neural tube.
  • Anomaly Ultrasound – Around 18 to 23 weeks of your pregnancy, an anomaly ultrasound offers a visual diagnosis of anencephaly or other birth defects.

If these early tests show signs of anencephaly, you will need to consider your options. For many expectant parents, ending the pregnancy is the best course of action due to high emotions and attachment issues. However, if you choose to continue the pregnancy, further tests may be necessary to ensure your own personal health and wellness. Unfortunately, there is no cure for anencephaly.

While Baby Shane and the Haley family brought attention to this serious birth defect, the majority of the world does not fully understand anencephaly. If you are pregnant, use this guide to understand and screen for anencephaly.

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