Many parents are overwhelmed with excitement when they discover they’re expecting a baby. Additional emotions may arise, however, when they learn that their baby has a birth defect. Understandably, confusion, blame, sadness and worry are among the most prominent feelings.
As a fetal-pediatric surgeon in the Cincinnati Fetal Center, I encounter families around this stage in their pregnancy. They’ve either just learned that they’re expecting a baby with a birth defect and we’re their next stop; or, they’ve been to another institution and are looking for a second opinion.
In either case, it’s our goal to provide families with the most clear and accurate information we can to help them understand their baby’s situation and options. We’ve found that covering the following topics has helped families move from the initial diagnosis phase into the decision making phase. If you’ve just learned that your baby has a birth defect, consider finding an institution that will walk you through the following steps, so that you can better understand your options moving forward.
Receiving a Birth Defect Diagnosis: Help with Understanding Your Options
Provide one clear message
In many instances, families have learned a lot about their baby’s condition before they walk through our doors. Some of it is accurate, some not. Birth defects are often highly complex and may require treatment and expertise from many different medical specialty areas. Our goal is to minimize confusion and to get everyone, including our own specialists, on the same page. We do this by hosting “team meetings.”
Our team meetings include all of the specialists who might need to be involved in the baby’s care. This often means more than 2-3 physicians, and at times 6-7 physicians will be in the room at the same time. We also invite anyone who is a part of the mother’s support system, such as a significant other, grandparents, friends, aunts, uncles, etc, to attend. If someone is unable to be in the room, we can set up tele-conferencing.
We have found that having one clear message, as an outcome of these team meetings, helps families feel more confident in their decision-making.
Understandably, families come to us bearing the weight of many emotions. One of the most prominent is guilt. Parents, especially mothers, often feel like they did something to cause the birth defect. We focus heavily on this emotion because once parents work through their feelings of guilt, they are better able to move forward. In turn, they’re also more likely to take care of themselves. Good self-care is an important part of having a healthy baby.
Birth defects happen in 1% of births. While it’s important to take steps to avoid “preventable” birth defects, more often than not, these birth defects occurred despite everything parents did. The unfortunate reality is that we often don’t know what causes them. We are discovering that birth defects once thought of as “flukes” were actually a micro-deletion of a chromosome. We need to continue conducting research to understand the disease processes better.
Provide treatment options
Different treatment options for birth defects are dependent upon the diagnosis of the baby. Some conditions can be managed medically, while others may need surgical intervention in utero or after the delivery. It’s important to find a center that is clear about the conditions they are capable of managing, as well as willing to share their outcomes data. This means how many procedures they’ve performed as well as survival information. We have treated 5,700 high-risk pregnancies since 2004 and have performed more than 1,600 procedures on these patients. Here are a few examples of some conditions we routinely treat and intervene surgically:
- Twin-Twin Transfusion Syndrome (TTTS): We routinely intervene in utero when babies have this condition. We have performed over 1,100 surgical interventions.
- Spina bifida/Myelomeningocele/Meningocele: We don’t repair all types; just the most severe. We have performed over 70 open and fetoscopic procedures.
- Fetal tumors: We have evaluated more than 107 patients for fetal tumors, including cervical, mediastinal, sacrococcygeal teratomas, neuroblastoma and renal masses.
- Congenital diaphragmatic hernia (CDH): Babies with severe CDH will likely need ECMO (a form of heart-lung support machine) immediately following birth. In the most severe cases, we have started inserting a small balloon in the windpipe of the trachea to allow the lungs to expand before they are born. This may prevent them from needing ECMO following birth and may improve the outcomes of these babies. Our first four cases have a survival rate of 75% (3/4) and none of the survivors required ECMO.
Support for the whole family
We have found that mom and baby have better outcomes when the baby’s community is well supported. I recommend finding a center that has dedicated social workers, genetic counselors, palliative care and nurse coordinators that provide support and counseling to the entire family.
I chose to become a fetal-pediatric surgeon because when I was doing my training, I saw the potential impact this specialty can make. It is possible to alter the natural history of some high-risk birth defects or to correct some birth defects early before they turn into something that is irreversible. We can continue to improve not only the outcome of the baby but decrease maternal risk related to the fetal surgery. Nothing is more rewarding than diagnosing a problem, helping patients through pregnancy and watching these babies grow up.