Introduction: Who Should Undergo Diagnostics

In many cases, parents learn about a cleft lip before their baby is even born. A cleft lip, which is an opening or split in the upper lip, can often be seen during routine pregnancy ultrasound screenings. Healthcare providers typically perform a detailed ultrasound scan between 18 and 21 weeks of pregnancy, and this is when many cleft lips are first noticed.^[4] However, not every cleft lip will be visible on these prenatal scans, and a cleft palate—a gap in the roof of the mouth—is particularly difficult to detect before birth using ultrasound imaging.^[2]

When a cleft is not identified during pregnancy, it is usually diagnosed immediately after the baby is born. Healthcare professionals examine newborns carefully during their first hours of life, and a cleft lip is typically obvious during this initial examination.^[1] A cleft palate may also be noticed right away, although some types are hidden beneath the lining of the mouth and might not be discovered until later in life.^[4] The newborn physical examination, which takes place within 72 hours of birth, is designed to catch these and other conditions early so that families can receive support and begin planning for treatment.^[4]

Any parent or caregiver who suspects their child might have a cleft should seek medical advice promptly. If a baby has difficulty feeding, makes unusual sounds when breathing, or has liquid coming out through the nose during feeding, these can be signs of a cleft palate that wasn’t immediately visible. Early diagnosis matters because children with clefts need specialized care from a team of healthcare professionals, and the sooner this care begins, the better the outcomes for the child.^[2]

Diagnostic Methods: How Cleft Lip and Palate Are Identified

Prenatal Ultrasound

The most common way that families first learn about a cleft lip is through a routine prenatal ultrasound. This is a standard test performed during pregnancy that uses sound waves to create images of the developing baby inside the mother’s womb.^[11] The 20-week screening scan, which takes place when a woman is between 18 and 21 weeks pregnant, is specifically designed to check for various physical features and potential birth differences.^[4]

During this scan, a healthcare professional moves a small device called a transducer over the mother’s abdomen. The device sends out sound waves that bounce off the baby’s body and return to create images on a screen. When examining the face, the technician looks at the structure of the lips and mouth. A cleft lip, especially if it is a larger opening, will appear as a visible gap in the upper lip on the ultrasound image.^[1] Some medical centers use advanced three-dimensional ultrasound technology, which can sometimes detect cleft lips as early as the 13th week of pregnancy.^[11]

However, ultrasound has its limitations. While it can identify many cleft lips, it is much harder to see a cleft palate because the palate is inside the mouth and hidden from the ultrasound view.^[2] Even with the best equipment, some cleft lips—particularly smaller ones or those that only affect a small portion of the lip—may not be visible on prenatal scans.^[4] This means that some parents will not know about their baby’s cleft until after delivery, which is completely normal and does not indicate that anything was missed or done incorrectly.

Physical Examination After Birth

When a cleft has not been identified during pregnancy, the diagnosis usually happens very quickly after the baby is born. Cleft lip is typically visible right away because it affects the outside appearance of the face.^[1] A doctor, midwife, or nurse will notice the opening in the upper lip during the first examination of the newborn. This immediate identification allows healthcare providers to begin coordinating care right away.

Cleft palate diagnosis also commonly occurs during the newborn examination, but it requires the healthcare provider to look inside the baby’s mouth. This is part of the standard physical examination performed on all newborns within 72 hours of birth.^[4] The examiner gently opens the baby’s mouth and uses a small light to check the roof of the mouth. A cleft palate will appear as an opening or split in the palate, which may involve the hard palate at the front, the soft palate at the back, or both.^[1]

Some types of cleft palate are more difficult to detect than others. For example, a submucous cleft palate is covered by the mucous membrane (the lining of the mouth), so it cannot be seen just by looking. These hidden clefts might not be diagnosed until later in childhood, perhaps when a child develops speech difficulties or has repeated ear infections.^[5] Parents or healthcare providers might notice that the child has nasal-sounding speech or liquid comes out through the nose when drinking, which can prompt further examination and lead to diagnosis.

Genetic Testing and Counseling

When a cleft is diagnosed either before or after birth, healthcare professionals often recommend meeting with a genetic counselor. A genetic counselor is a specialist who helps families understand whether genetic factors may have contributed to the cleft and what this might mean for future pregnancies.^[11] While the exact cause of most clefts remains unknown, research suggests that a combination of genetic and environmental factors is usually involved.^[2]

If a cleft is detected during a prenatal ultrasound and there are concerns that it might be part of a larger syndrome, the healthcare provider may offer additional testing. One such test is amniocentesis, a procedure where a small sample of the fluid surrounding the baby is removed from the mother’s uterus and analyzed.^[11] This fluid contains cells from the baby that can be tested for genetic conditions. Amniocentesis can help determine if the baby has a syndrome that includes a cleft as one of several features, such as Down syndrome or Pierre Robin sequence.^[2]

After a baby with a cleft is born, genetic counseling remains valuable. The counselor will discuss the results of any genetic tests, explain the possible causes of the cleft, and provide information about the likelihood of cleft lip or palate occurring in future children.^[11] Families who have a history of clefts—meaning that a parent, sibling, or other close relative was born with a cleft—may have a higher chance of having another child with the condition. Understanding these risks can help families make informed decisions about family planning.

Distinguishing Between Types of Clefts

Not all clefts are the same, and part of the diagnostic process involves identifying exactly what type of cleft a child has. This matters because different types of clefts require different treatment approaches. A baby might have a cleft lip without any involvement of the palate, a cleft palate without a cleft lip, or both a cleft lip and palate together.^[1] The cleft can also be on one side of the face, which is called unilateral, or on both sides, which is called bilateral.^[8]

The size and extent of the cleft also varies considerably. A cleft lip might be just a small notch in the colored part of the lip, or it might be a complete separation that extends all the way up into the nose.^[1] Similarly, a cleft palate might only affect a small portion of the soft palate at the back of the mouth, or it might extend through both the soft and hard palate all the way to the front.^[1] Healthcare providers carefully examine and document these details because they influence the timing and type of surgical repair needed.

Distinguishing a cleft from other craniofacial conditions is also important. Some babies are born with multiple birth differences that occur together as part of a syndrome. For instance, approximately 30 percent of cleft cases are associated with a genetic syndrome that causes additional symptoms.^[2] Recognizing these patterns helps the medical team provide comprehensive care that addresses all of the child’s needs.

Diagnostics for Clinical Trial Qualification

When families consider enrolling their child in a clinical trial related to cleft lip or palate, additional diagnostic evaluations may be required beyond the standard diagnosis. Clinical trials are research studies that test new treatments, surgical techniques, or approaches to care. To participate, children must meet specific criteria to ensure the study results are accurate and meaningful.

The exact diagnostic tests required for clinical trial enrollment vary depending on what the study is investigating. However, there are some common assessments that researchers typically need. First, detailed imaging of the cleft is often necessary. This might include specialized photographs taken from multiple angles to document the size and shape of the cleft before any treatment begins. These images serve as baseline documentation that can be compared to results after an intervention.

Clinical trials may also require comprehensive hearing tests because children with cleft palate are more likely to develop ear problems and hearing loss.^[2] A hearing test, or audiology assessment, measures how well a child can hear different sounds and frequencies. If a trial is studying a new surgical technique for palate repair, researchers may want to know the child’s hearing status before and after surgery to see if the new approach affects hearing outcomes differently than traditional methods.

Speech and language evaluations can also be part of clinical trial diagnostics. Even young babies who cannot yet speak may undergo baseline assessments that measure their ability to make sounds, feed effectively, and coordinate the muscles used for eating and talking. These early measurements establish a starting point that can be tracked over time as the child grows and receives treatment. Trials investigating speech therapy techniques or timing of palate surgery often require these detailed speech assessments.

Some clinical trials involve testing new imaging technologies or diagnostic tools themselves. For example, a study might be investigating whether a particular type of three-dimensional imaging can better predict which children will need additional surgeries. In these cases, the child would undergo the new imaging technique being studied, possibly alongside standard imaging methods for comparison.

Genetic testing may also be required for some clinical trials, particularly those investigating the causes of clefts or testing treatments that might work differently depending on a person’s genetic makeup. This might involve a simple blood test or cheek swab to collect cells for DNA analysis. The results help researchers understand whether genetic factors influence how well a treatment works.

Medical history documentation is another crucial component of clinical trial diagnostics. Researchers need detailed information about the pregnancy, the mother’s health during pregnancy, any medications taken, and whether there is a family history of clefts. This information helps researchers identify patterns and risk factors that might be important for preventing clefts in the future or developing better treatments.

Before a child can enroll in most clinical trials, their overall health status must be confirmed. This typically means recent physical examination findings, growth measurements showing the child’s height and weight, and general developmental assessments. Some trials have specific health requirements, such as the child being a certain age or weight, or not having certain other medical conditions that might complicate the study results.

Families considering clinical trial participation should ask the research team about all diagnostic procedures required and whether these tests are covered by the study or by their insurance. Many trials provide study-related testing at no cost to families, but it’s important to understand any potential expenses upfront. The research team should also explain how results from these diagnostic tests will be used and shared with the family.