September is Craniofacial Acceptance Month! To celebrate, we would like to take a moment to review cleft lip and palate, two of the most common physical differences seen at birth.
What are cleft lip and cleft palate?
In the United States, as many as 7000 babies are born with a cleft lip (CL), cleft palate (CP), or cleft lip and palate (CL/P) each year. This makes CL and CP two of the most common physical differences seen at birth. The term CL is used when a baby’s upper lip does not fully form. This makes the lip look like it is split. The term CP is used when the roof of a baby’s mouth does not fully form so there is an opening in the top of their mouth. Sometimes parts of the nose can be involved when a baby has a CL and/or CP. The outward appearance and impact of CL and CP can be very different from person to person.
When does cleft lip and cleft palate occur in development?
The mouth and lips form around the 6th and 7th week of pregnancy; however, it may take some time to be detected on ultrasound. Some parents will know their baby has CL, CP, or CL/P before birth as it was seen on ultrasound. Other parents find out at birth. Ultrasound does not do a great job in detecting CP in babies who do not have CL.
How are cleft lip and cleft palate treated?
Surgery to repair CL, CP, or CL/P is the usual treatment for these conditions. The first surgery usually takes place a few months after a baby is born. Some children may need additional surgeries and dental work depending upon the size and location of their clefting or as they grow and change. Afterwards specialty doctors such as an otolaryngologist and a speech therapist may follow the child to make sure the repair is successful and that the child’s speech, feeding, and breathing all develop as expected .
What causes cleft lip or palate?
CL, CP, or CL/P can be sporadic (meaning it just happens), multifactorial (meaning several things happened during development), or caused by a genetic change (meaning caused by a change in a gene that was either inherited from a parent or new in a child). If the clefting is the result of a genetic change, it could either be isolated (meaning no other health concerns are expected due to this change) or part of a syndrome (meaning a child may have additional health concerns in addition to their facial differences).
Should my child have genetic testing related to cleft lip or palate?
There are many reasons why some parents decide to pursue genetic testing regarding their child’s CL, CP or CL/P while others decide against it. This article is designed to provide information to give you something to think about as you make the decision of whether genetic testing is right for your family. No matter the final decision, we respect every families’ choice, and we hope that this blog helps you understand another family’s point of view.
Common reasons some individuals pursue genetic testing related to cleft lip or palate:
1: To Answer the Question “Why did this happen?”
One of the main reasons why people get genetic testing is information gathering. They want to know if an underlying genetic change resulted in their child being born with a CL, CP, CL/P. Getting a positive answer through genetic testing can provide additional information about the risk for other associated health issues. However, it is important to note that genetic testing can’t always provide clear answers about how the development of the lip and palate was affected. When CL and/or CP is a part of a syndrome, a genetic cause can be detected about 75% of the time, however, nonsyndromic CL and/or CP may only be linked to a genetic cause 14% of the time. There are some environmental causes of CL and/or CP that can’t be discovered through any type of testing.
2: Family Planning
Parents considering having other children may get genetic testing to determine what the chances are that another baby may be born with a CL, CP or CL/P. When no genetic cause for CL, CP or CL/P is identified, the chance that a sibling will have the same features is approximately 3-5%. When CL, CP or CL/P is genetic the chance of another baby having the same features can be much higher, typically, ranging from 25-50% recurrence risk. Knowing this information may change how parents decide to grow their family, or it can help them prepare to welcome a new family member who may need additional medical support.
3: Understanding Current and Future Health
Some families want to make sure that a cleft is only an isolated cleft. In some cases, CL, CP or CL/P can be one part of a larger syndrome meaning that there may be other health problems that are expected to happen. Knowing this ahead of time means that families can find special doctors that can help treat new symptoms if or when they should happen. Other kids have CL, CP or CL/P, and additional medical issues such as a very small jaw, limb differences, a heart defect, or other development changes. Some children with a cleft are also born deaf or develop hearing loss early in childhood. When multiple health concerns are already present, genetic testing might connect them together under one name or syndrome.
4: Finding Community
Connecting with people and families who have similar health experiences can be both empowering and comforting. Receiving a genetic diagnosis can be helpful for finding the right community. These communities often come together to celebrate their differences as well as to share resources and advocate for their unique needs. They can provide role models for children to look up to and safe spaces for parents to debrief on hardships that others just don’t understand. These communities can become an important part of a person’s life and give new meaning to their condition.
5: Getting involved in research
As mentioned previously, genetic testing won’t always provide an answer, however, research to learn more about quality of life in individuals with CL/P and causes of CL, CP of CL/P is ongoing. Getting involved in research is an opportunity for some families to get closer to the answers they want. If you are interested in getting involved in research, check out clinicaltrials.gov for more information.
Common reasons some individuals choose not to pursue genetic testing related to cleft lip or palate:
Genetic testing isn’t for everyone. There are plenty of reasons why a person decides genetic testing isn’t right for them or their family, and the following are just a few.
1: Not a Top Priority
Life gets busy and people have to choose what tasks must get done and which simply aren’t important enough. Maybe they’re working on finding a speech therapist who will work with their child’s strengths and weaknesses. Maybe their focus is on increasing their child’s self-confidence and self-acceptance. Maybe there are other more pressing health issues or life events that need their full attention, and a genetic diagnosis on top of everything going on just won’t be helpful.
2: Nothing would Change
Sometimes people use genetic testing to make medical decisions as well as general life choices. Others know that no matter the result, they wouldn’t change a thing. Especially when a child is happy and doing well, there may not be a reason to get testing. It’s true that many cases of CL, CP or CL/P are isolated, meaning it won’t lead to any additional health concerns. In these cases, a genetic diagnosis wouldn’t change anything regarding a child’s medical care.
3: Child’s Choice
Usually, it’s up to the parents to decide whether or not to get genetic testing for their child. Some parents do not personally care to know what genetic testing would show and would rather leave this decision up to their child to make when they get older. Genetic information is highly personal and can affect the choices a person makes throughout their life. Some parents want their child to decide for themselves whether they want to know that information or not.
4: Not Ready to Know
Maybe genetic testing is something that parents are interested in, but they know they are not ready for that information just yet. They don’t have to have a specific reason. Simply knowing they’re not ready to know what testing might show is enough. These families may wait until they are ready as genetic testing is always available.
5: Not Interested
What else is there to say? Some families just aren’t interested.
How can someone start the conversation about genetic testing?
For those who are interested in getting genetic testing either for themselves or for a child, there are a few ways to get the process started. You may start by talking with your doctor. They may be able to do the testing themselves, or they can refer you to a genetics clinic for a full genetics evaluation. You can also reach out to a medical geneticist or a genetic counselor yourself. A medical geneticist can be found on the American College of Medical Geneticist website, and genetic counselors can be found on the National Society of Genetic Counseling website.
If genetic testing isn’t something that you’re considering at the moment, know that the conversation might still come up. Your doctor may bring it up if they find medical issues that suggest an individual may have a genetic condition. Sometimes the purpose of testing isn’t just for diagnosis, but to rule out conditions that are less likely but much more serious.
The decision to get genetic testing is highly personal. Never be afraid to ask why it’s being considered and to think about the pros and cons before making a final decision.
Where can I find support related to cleft lip or cleft palate?
For general support and resources regarding cleft lip and palate, organizations such as Children’s Craniofacial Association and American Cleft Palate-Craniofacial Association are a great place to start.
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- Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing. (2018). American journal of medical genetics. Part A, 176(6), 1280–1282. https://doi.org/10.1002/ajmg.a.38849
About Aaliyah Heyward: Aaliyah spent 3 years as an undergraduate Intern at the Emory Lysosomal Storage Disease Center and Genetic Clinical Trials Center and is currently working towards her Master of Medical Science in Genetic Counseling degree. She joined ThinkGenetic in 2021 as a Genetic Counseling Student and Content Creator.