Perhaps the worst time to receive distressing news from a doctor’s office is Friday afternoon when everyone closes for the weekend. That happened to Mary—while driving down a busy LA freeway. To add to the dire news, Mary’s beloved OB/GYN had passed away the week before.
The call she received was from her late doctor’s nurse. Mary learned her baby’s bloodwork had come back and showed a neural tube defect. Neural tube defects (NTDs) are relatively uncommon but significant congenital abnormalities that occur in about 1 in 1,000 pregnancies globally.
What is a neural tube defect?
Neural tube defects (NTDs) are congenital disabilities of the brain, spine, or spinal cord that happen in fetuses within the first month of pregnancy.
These serious neurological disorders are often related to malformations of the spinal cord, such as spina bifida, anencephaly, meningocele, myelomeningocele, hydrocephalus, and tethered spinal cord syndrome.
Regular ultrasounds and a second-trimester blood test (called Maternal Serum Alpha-fetoprotein (MSAFP test) can help diagnose neural tube defects during pregnancy.
What are the risk factors for neural tube defects?
Neural tube defects (NTDs) are influenced by health conditions, genetics, environmental, and nutritional factors, including:
- A significant risk factor is inadequate folic acid supplement or folate (vitamin B9) before conception and during early pregnancy. These supplements are crucial for the proper closure of the neural tube during the first few weeks of pregnancy
- Having a previous pregnancy affected by an NTD or a family history of NTDs increases the risk of recurrence in future pregnancies
- Certain genetic mutations
- Women with pre-existing diabetes, particularly if poorly controlled, have a higher risk of having a baby with an NTD
- Maternal obesity
- High maternal body temperature during early pregnancy, such as from fever or exposure to high heat (e.g., hot tubs), can increase the risk of NTDs
- Medications such as anticonvulsants (e.g., valproic acid) used to treat epilepsy and other conditions have been linked to an increased risk of NTDs.
- Certain ethnic groups, such as people of Hispanic origin, have a higher prevalence of NTDs.
- Certain environmental factor
- Maternal Age, both very young and older, are associated with a higher risk
- Twins and other multiple pregnancies may have a slightly increased risk of NTDs
Dr. Rad to the rescue
Once home, Mary frantically searched for specialists who could perform an ultrasound and confirm the diagnosis. “I couldn’t get in touch with anyone,” she says. That was until she called high-risk pregnancy expert Dr. Rad.
Not only did Dr. Rad call her right back that afternoon, but he also saw her the next day, on a Saturday. The first thing the doctor did was to perform an ultrasound. Double-board certified, Dr. Rad uses innovative 3D and 4D high-definition ultrasound technology that’s available only in a few places in Los Angeles. After that test, it was confirmed that the baby did indeed have a developmental problem.
Dr. Rad then put Mary through a barrage of tests to gain additional information. “He performed every test under the sun, including amniocentesis,” she says. Amniotic fluid (alpha-fetoprotein) measurements in the early prenatal diagnosis examine potential problems with the central nervous system.
The news from other doctors was not good. “I was strongly advised to terminate my pregnancy,” remembers Mary. “They said my baby would be partially handicapped or have other abnormalities or need a shunt in his brain.”
Call (844) 473-6100 or click here to schedule online
Dr. Rad, the sole optimist
But while medical naysayers voiced their dire opinions, Dr. Rad never wavered with his positivity, having closely examined the fetal ultrasound.
“I do advanced fetal ultrasounds and have international training in fetal neurology,” he says. “In my life, I’ve done more than 10,000 ultrasounds. I’m well trained.”
After a short time, he had convinced Mary that the baby would be happy and healthy.
“The baby was growing, and the lesion was very, very low,” she says, referring to lesions associated with NTDs that can vary significantly in severity and location, typically affecting the spine or brain. “We knew the baby would have a good life. It was a risk my husband and I were willing to take.”
The final stages of pregnancy with Dr. Rad and spina bifida
Of course, Mary and her husband were anxious as the term progressed, but Dr. Rad allayed their fears. “He answered my messages and calls late into the night,” marvels Mary.
After a gentle C-section, the baby, now named Charlotte, was diagnosed with a severe form of spina bifida (myelomeningocele) — meaning the spine had not formed correctly in utero. This type of spina bifida is a type of neural tube defect that occurs when the spine and spinal cord don’t form properly during early pregnancy. This can result in varying degrees of disability, depending on the severity and location of the defect.
Three days after the baby’s birth, Mary’s baby had fetal surgery by a pediatric neurosurgeon to close the malformation in the baby’s back.
Baby Charlotte is now living a good life!
The neurosurgery was a success.
Now Charlotte is 18 months old and thriving. “She has no deficits or intellectual disability. She’s walking, talking, and running around,” says the gleeful mom. “She’s doing everything I was told she would never do.”
And don’t think Mary doesn’t have undying gratitude for the care and expertise given by Dr. Rad.
“He was the only one willing to tell me she could have a good quality of life,” she says. “He was amazing. I recommend him to anyone who is having a high-risk pregnancy.”
Why trust your pregnancy care to Dr. Rad?
Expectant mothers with high-risk pregnancies worldwide are finding their way to Dr. Steve Rad’s Beverly Hills offices. Dr. Rad is recognized as one of the premier healthcare obstetricians for high-risk pregnancy and maternal-fetal medicine. Los Angeles Magazine has named the doctor an OB/GYN top maternal-fetal medicine specialist in Los Angeles for six years in a row.
A maternal-fetal medicine specialist (perinatologist) receives a traditional obstetrics and gynecology education, with an additional three years of training in treating pregnancy complications and promoting a healthy pregnancy.
Dr. Rad handles pregnancy-related health problems and pre-existing medical conditions that could impact pregnancy, including gestational diabetes, hypertension (high blood pressure), genetic conditions, preterm labor, anemia, preeclampsia, stillbirth and pregnancy loss, chromosomal problems (such as Down Syndrome), advanced maternal age, kidney disease, genetic disorders, multiple gestations (twins or triplets), placenta disorders, and congenital disabilities.
Dr. Rad is also an in-home health care provider for prenatal care and a fly-in program for out-of-town and international patients. He travels to patients who need him throughout the U.S. and worldwide and offers virtual consultations.
Dr. Rad is currently accepting new patients. Call (844) 473-6100 or schedule your consultation online.
Sources
Encephalocele | Birth Defects
https://www.cdc.gov/birth-defects/about/encephalocele.html
Exploring the life experiences of school-aged children afflicted by tethered spinal cord syndrome: An interpretative qualitative study – PubMed
https://www.ncbi.nlm.nih.gov/pubmed/39102681
Spina Bifida | National Institute of Neurological Disorders and Stroke
https://www.ninds.nih.gov/health-information/disorders/spina-bifida
Where We Stand: Folic Acid
https://www.healthychildren.org/English/ages-stages/prenatal/Pages/Where-We-Stand-Folic-Acid.aspx
Spina bifida | Centers for Disease Control and Prevention
https://www.nichd.nih.gov/health/topics/ntds/conditioninfo
Review Concepts in the neurosurgical care of patients with spinal neural tube defects: An embryologic approach.
https://www.ncbi.nlm.nih.gov/books/NBK555903/
