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Mom’s Rare Birth Defect – An Unchartered Pregnancy Story

This Women’s Telehealth patient story is a twist on a birth defect – the mother’s rare birth defect, a diaphragmatic hernia at birth, now posed a pregnancy management challenge to mom and potentially baby.

The Pregnancy Challenge: A mom-to-be from middle Georgia was 26 weeks pregnant when she visited her local OB physician for the first time.  When her initial OB assessment revealed that she had been treated for a Bochdelek Hernia at birth, her doctor promptly referred her to Women’s Telehealth for high-risk MFM Specialist care.

A Bochdelek Hernia is a rare, life-threatening congenital birth defect in which an opening in the diaphragm allows the baby’s abdominal organs to shift into the chest.  The patient required surgery at birth to place the organs in the proper position and repair the opening in the diaphragm, and, a tissue graft was placed surgically during childhood.  Rarely does a woman who has had this condition become pregnant herself later in life.                          

Of primary concern was:  Would the growing baby in utero cause the graft to stretch or possibly break? How would the growing baby affect the patient’s health? Would she be able to push during delivery or would a C-section be required? These were the serious questions facing the patient and her obstetric team.

The Team’s Actions:

  • The initial, advanced MFM ultrasound via telemedicine revealed that the tissue graft was intact and functioning well.                
  • The fetus was found to have a two vessel umbilical cord with low blood flow and was in the 9th percentile for its gestational age, indicating Intrauterine Growth Retardation (IUGR).                 
  • An extensive literature search revealed no documented, similar cases.                                                    
  • WT collaborated with other MFM’s and a graft surgeon in San Francisco who places grafts in children, to discuss the situation and graft function with a pregnancy stress.
  • The patient was educated about immediate reasons to present to the ER.                               
  • Diagnostic genetic lab tests revealed the baby did not have any genetic or neural tube defects.
  • WT is now in the process of writing this case study for publication in a professional peer reviewed journal, with the family’s cooperation, so there will be a future resource for others.          

The Results: A healthy, > 5-pound baby girl was successfully delivered via C-Section at 35 weeks gestation!  WT is happy to report that the mom’s diaphragmatic graft functioned well throughout the pregnancy and required no medical or surgical intervention. 

Women’s Telehealth was pleased to be called on to help solve this rare pregnancy dilemma. It’s another example of how the advanced MFM technological services can be provided via telemedicine to treat complicated, high-risk prenatal cases often saving time and money as well.

Our goal in sharing patient stories is to show the role and possibilities Women’s Telehealth plays in accessing and intervening in high risk pregnancies. We help turn patient and OB provider concern into the best possible care plans and outcomes for moms and their babies.
For more information, call our office at: 404.478.3017

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