Ethical Implications of Cleft Lip and Palate Repair in Patients with Trisomy 13 and Trisomy 18

Abstract

Background Children born with Trisomy 13 or 18 (T13/18) often have multiple congenital anomalies, many of which drastically shorten their lifespan. Among these defects are cleft lip and palate, the repair of which presents an ethical dilemma to the surgeon given the underlying comorbidities associated with T13/18. The authors present an ethical discussion and institutional experience in navigating this dilemma. Methods The authors analyzed existing literature on T13 and T18 surgery and mortality. A retrospective study over ten years was also conducted to identify pediatric patients who underwent surgical correction of cleft lip and/or palate secondary to a confirmed diagnosis of T13/18. The authors identified two patients and examined their treatment course. Results The authors’ review of literature coupled with their institution's experience builds on the published successes of correcting cleft lip and palate in the setting of T13/18. It was found that both patients identified in the case series underwent successful correction with no surgical complications. Conclusion A careful balance must be struck between improved quality of life, benefits of treatment, and risks of surgery in children with T13/T18. Careful consideration should be given to the medical status of these complex patients. If the remaining medical comorbidities are well managed and under control, there is an ethical precedent for performing cleft lip and palate surgeries on these children. A diagnosis of T13/T18 alone is not enough to disqualify patients from cleft lip/palate surgery.

A 29-Year-Old Patient With Patau Syndrome: A Case Report on Medical Management

“…The correctional surgeries they undergo can be physically and mentally taxing; therefore, the advantages and disadvantages must be thoroughly assessed to optimize their quality of life. In this ethical dilemma, it is critical to acknowledge that a diagnosis of Patau syndrome alone is not enough to make the patient ineligible for correctional procedures [5]. In this case, the patient was constantly dealing with worsening menorrhagia and recurrent miscarriages, which were poorly controlled with medical management, leaving hysterectomy as the only definitive treatment.…”

“…In this case, the patient was constantly dealing with worsening menorrhagia and recurrent miscarriages, which were poorly controlled with medical management, leaving hysterectomy as the only definitive treatment. At the age of five, she had a palatoplasty followed by extensive speech therapy, which improved her ability to communicate with others [5]. At the age of 13, spinal decompression surgery was conducted to remove the T1 vertebrae to improve the patient's intense neuropathy [6].…”

Prevalence and clinical characterization of oral clefts in patients with chromosome trisomy 18

“…Several prescription drugs also increase risk when taken during the first trimester, including folate antagonists and some other drugs that exhibit anti-folate properties. 31 , 32 …”

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

“…This is presumed to be because of the limitations in ultrasonography in the previous decade. However, the recent advances and greater availability of prenatal ultrasound screening for structural anomalies result in a greater proportion of anomalies being diagnosed (Appel et al, 2023). In our cohort, the perinatal evaluation identified facial dysmorphism as the most frequent anomaly (10/16, 62%).…”