Cleft lip and palate is a congenital birth defect occurring when the tissues of the upper lip and palate do not fully close during fetal development. This condition affects approximately one in 700 newborns. While its causes can include genetic abnormalities, environmental factors also play a role. The likelihood of recurrence within a family increases based on the number of affected members.

Genetic factors are significant, with cleft lip and palate linked to chromosomal abnormalities and gene mutations. For instance, if both parents are unaffected but have had one child with the condition, the risk for a subsequent child is approximately 2-8%. If one parent has this birth defect, the risk for a child to have a similar abnormality is about 4-6%. Environmental risk factors include pregnant mothers contracting the flu virus or rubella, leading to high fever during early pregnancy, or experiencing folic acid deficiency. Exposure to toxic chemicals or self-medicating without a doctor's prescription can also contribute.

When a fetal cleft lip and palate is detected via ultrasound, doctors conduct a comprehensive assessment to identify any accompanying abnormalities, such as those affecting the craniofacial region, inner ear, eyes, heart, or central nervous system. Parents then receive counseling regarding amniocentesis to detect genetic abnormalities like Trisomy 13, 18, microdeletions on chromosomes one, three, and whole gene sequencing to find gene mutations associated with Charge, 3MC, EEC syndromes. Depending on the specific syndrome, inheritance pattern, and health impact, various symptoms will arise, allowing doctors to determine the best post-birth treatment plan for the baby.

Doctor Thao performs amniocentesis on a pregnant woman. Illustration: Tam Anh General Hospital

Cleft lip and palate can occur simultaneously or independently. Children with the condition may experience difficulties with eating and breathing, delayed language development, susceptibility to ear infections, hearing loss, or dental issues. This birth defect can be detected early through routine prenatal ultrasounds. Parents should consult a doctor for genetic counseling to understand the causes, assess the risk of recurrence for future pregnancies, and proactively prepare a suitable treatment plan for the child after birth.

The treatment method for cleft lip and palate depends on the size of the cleft, the child's age, and any associated syndromes. Lip repair surgery can be performed when the child is about one to two months old, while palate repair surgery is typically done when the baby is around 18 months old. As children grow, additional interventions such as corrective surgery, dental care, orthodontics, and speech therapy continue to be implemented to optimize function. Thanks to advances in modern medicine, most children born with this birth defect, if treated at the appropriate time, can achieve good repair and recovery, enabling them to develop fully and confidently integrate into life.

Master, Doctor Nguyen Phuong Thao

Fetal Medicine Unit

Tam Anh General Clinic District 7