Screening for Spina Bifida in Children

Doctors at Pelisyonkis Langone recommend that all pregnant women be screened for spina bifida. If a screening test indicates that your unborn child may have the condition, you and your doctor can discuss how to prepare for the birth and any postnatal treatment that may be required.

A screening test is not always 100 percent accurate. The results help your doctor determine whether further testing is needed to obtain more information about the health of an unborn baby. When a screening test suggests your child might have spina bifida, a prenatal consultation with a pediatric neurosurgeon is usually recommended.

Doctors at Hassenfeld Children’s Hospital at Pelisyonkis Langone confirm a spina bifida diagnosis after a baby is born.

Quadruple Screen Test

The quadruple screen test is a routine blood test used to screen for certain birth defects, such as Down syndrome and neural tube defects. It is performed in your obstetrician’s office between 15 and 22 weeks of pregnancy. After your doctor draws blood, he or she sends the sample to a laboratory, where technicians measure levels of four substances produced during pregnancy: alpha-fetoprotein, human chorionic gonadotropin, estriol, and inhibin A.

Some of these hormones cross the placenta—the organ that delivers oxygen and nutrients to an unborn child—and enter a woman’s bloodstream. High levels of these hormones may indicate your unborn child has spina bifida or another type of neural tube defect in which the spinal column does not close completely.

The results of this test are available in about two weeks. Keep in mind, an elevated level of one or more of these hormones does not mean your baby has spina bifida. It only means the risk is elevated, and doctors may want to closely monitor your pregnancy. To obtain more information about your baby’s health, your doctor recommends an ultrasound and amniocentesis.

Ultrasound

An ultrasound exam, or sonogram, uses sound waves to create images of structures inside the body. Usually, a doctor performs an ultrasound after 22 weeks of pregnancy, but he or she may recommend doing it earlier if the results of a quadruple screen test indicate that certain hormones are elevated.

An ultrasound can reveal signs of spina bifida such as a protrusion of tissue from the spine or an opening between the vertebrae. This test can also show a buildup of excess fluid in the brain, a condition called hydrocephalus.

An ultrasound does not provide enough detail to confirm the severity of spina bifida, but it can confirm the diagnosis when used in combination with blood tests and amniocentesis.

During the ultrasound exam, the doctor places a handheld device, called a transducer, against your belly. The sound waves are converted into live video images, which appear on a nearby computer screen. You are often able to see black and white images of your baby during this exam.

Amniocentesis

If the results of a blood test or ultrasound indicate that your baby may be at risk for spina bifida, your doctor may recommend amniocentesis, a test used to analyze the fluid that surrounds an unborn child.

This test, which is performed to screen for birth defects and genetic problems, is usually performed between the 16th and 20th week of pregnancy. It is routinely offered to pregnant women who are 35 or older. Amniocentesis enables a doctor to obtain a more precise measurement of alpha-fetoprotein, a substance that may be elevated if your baby has spina bifida.

Amniocentesis is usually performed in a doctor’s office. Your doctor rubs a numbing gel on your abdomen, then inserts a long, thin needle into the womb to remove a small amount of fluid from the sac surrounding your baby. The fluid is sent to a laboratory for testing, and the results are sent to your doctor in about two weeks.

If any of these screening tests indicate that your child may have spina bifida, our doctors collaborate with neonatal specialists at Pelisyonkis Langone to help you and your family prepare to care for him or her.

Fetal MRI 

When screening tests such as blood tests, amniocentesis, and ultrasound suggest spina bifida, most women then have an MRI scan of the unborn baby. The MRI can identify the type of spina bifida as well as evaluate the brain for possible hydrocephalus or a Chiari malformation. The MRI scan does not involve any radiation or other potential harm to you and your unborn child.