Birth Defect Treatments and Treatment Facilities

Finding out a child has a birth defect can be very frightening. The first concern is usually, “Will the child survive?” Fortunately, birth defect treatments can repair defects and restore body functions, often helping a child to go on to live a normal, healthy life. The success of these treatments typically depends on the type and severity of the birth defect and the quality and experience of the treatment facility.

Birth Defect Types

Though there are many different birth defect types, they can be categorized into two main groups:

• Structural defects: These may include cleft lip, cleft palate, neural tube defects, omphalocele (abdominal defect), cranial defects, heart defects, club foot, and others—all involving a problem with certain body parts, particularly in how they were developed.
• Functional defects: These include nervous system or brain problems like mental retardation or behavioral disorders, sensory problems like blindness and deafness, metabolical disorders like hypothyroidism, and degenerative disorders like Rett syndrome and muscular dystrophy—all involving a problem with how a body system functions.

According to the Centers for Disease Control and Prevention (CDC), the six most common birth defect types include genetic defects like Down syndrome, mouth/facial defects like cleft lip, heart defects, musculoskeletal defects, stomach/intestinal defects, and eye defects.

Birth Defect Causes

A birth defect may be caused by one factor or a combination of factors, and sometimes the cause remains unknown. Those defects of known causes include gene defects, chromosomal disorders, micronutrient deficiencies, or environmental factors, which can include maternal exposure to chemicals or medications harmful to a fetus. Doctors will use various types of birth defects testing to come up with a diagnosis, which can sometimes be done before the baby is born. Parents are always advised to secure a second opinion.

Birth Defect Treatments Depend on Type

The treatments for any specific type of birth defect may vary, depending on the severity of the defect and how much it affects the child’s health. In general, treatment involves medical therapy, surgery, and/or rehabilitation. Some common birth defects and their standard treatments include the following.

• Abdominal defects: These usually involve defects where the intestine or other abdominal organs stick out of the belly button or other part of the abdomen, resembling a hernia. Surgery is usually required, though a sac placed over the abdominal contents can allow time for a more gradual treatment.
• Cleft lip or palate: This condition most often requires surgical repair, but children typically grow up normally with only a small scar.
• Club foot: Mild cases involve gently forcing the foot into the correct position and helping the child to do special exercises. More severe cases require treatments like plaster casts, splints, special shoes, and sometimes surgery followed by exercises. The process can take several months.
• Craniosynostosis: This birth defect that leads to an abnormally shaped head, craniosynostosis is typically treated with surgery to relieve pressure on the brain and make sure there is room in the skull to allow the brain to grow. The outcome is typically positive.
• Down Syndrome: There is no treatment per se for this syndrome, as it cannot be “cured,” but medical therapies may be necessary for accompanying visual or hearing impairments. In addition, early intervention therapies like speech therapy and physical therapy help advance development.
• Heart defects: Depending on severity, these are typically treated with surgery, drugs, or a mechanical aid like a pacemaker. For example, medicines can control an irregular heartbeat, coarctation of the aorta, or tetralogy of Fallot. Heart catheterization, where the doctor threads a thin, flexible tube called a catheter through a blood vessel in the groin, may also be used to repair a defect. Recently, research has shown that women who took proton pump inhibitor medications, such as Nexium, during pregnancy are at risk of giving birth to children with heart defects.
• Learning disabilities and other mental development problems: These may not show up until later in the child’s development, but can then be addressed by special education, stress management training, and behavioral management training.
• Missing limbs: Parents are referred to an orthopedic specialist who helps fit the child with a prosthesis as early as possible. Intense physical therapy follows to help him or her learn to use it.
• Spina Bifida: Severe cases require surgery within 48 hours of birth, followed by special exercises. The child may still need to use leg braces and crutches.