Clinical Experiences of Trisomy 18 With Cleft Lip and Palate
Trisomy 18 is a common and important chromosomal disorder, displaying multiple congenital anomalies. Less than 10% of the patients survived 1 year. Surgical treatment for children of trisomy 18 is controversial due to poor prognosis. However, recent progresses in medicine has enabled a significantly longer survival rates. We report two surgical cases of trisomy 18 with bilateral cleft lip and palate.
Case Reports
A 16-day-old female newborn baby presented with retractive breathing and multiple anomalies since birth. Because trisomy 18 was suspected by facial features, she was transferred to our hospital for intensive care and underwent tracheotomy. Later, she was diagnosed with trisomy 18 by chromosomal test. Her parents had a strong desire to the correction of cleft lip, in view of her human dignity. We consulted with pediatricians and anesthesists repeatedly and referred to the ethical committee of our hospital. Her general conditions had stabilized at 6 months, so we performed a cheilopasty utilizing the De Haan method. Postoperative concourse was uneventful. She is well 21 months after surgery, and her parents are satisfied with their decision for daughters ’ sake.The other patient was 3-year-old-male with trisomy 18, and he was referred to our hospital for treatment of bilateral cleft lip and palate. From birth, he received a tracheotomy for breathing problems. His general conditions were stable, and he received home medical care. Responding to his parents’ request, we again consulted with pediatricians and anesthesists and referred to the ethical committee of our hospital.We performed cheilopasty utilizing by the De Haan method. Postoperative concourse was uneventful. He is well 3 months after surgery and he tries to eat a baby food in stages by oral ingestion. His parents are pleased with his improvement of facial anomalies and the progression of daily activity.
Conclusions
There are some reports all over the world that the intensive care for tirsomy 18, including respiratory support, cardiac inotropic agents, and gastrointestinal surgery could lead to a better prognosis. Although cheiloplasty is a method which drastically improves functions and aesthetics, it has not been discussed for trisomy 18. When we do the surgery for trisomy 18, we must thoroughly explain the risks to patients’ that conditions may turn worse and that they sometimes become mortal to family, and take informed consent from the family. Sufficient consultations with related faculties or the third party such as an ethics committee are also necessary. As life expectancy of the patients with trisomy 18 rises like in our cases, it is expected that the family will demand more active treatment to enhance the patient’s human dignity. Careful therapeutic strategy and plan should be determined in view of the situation of patients and the attitude of their family.
References
1. Kosho, T., et al. Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group. Am J Med Genet A. 2013 Jul;161A(7):1531-42.
2. Nishi, E., et al. Surgical intervention for esophageal atresia in patients with trisomy 18. Am J Med Genet A. 2014 Feb;164A(2):324-30.